Archive for December, 2020

Pune, India, Dec. 21, 2020 (GLOBE NEWSWIRE) -- The global womens health market size is projected to reach USD 41.05 billion by 2027, exhibiting a CAGR of 3.2% during the forecast period. The COVID-19 pandemic is likely to reemphasize the importance of woman health and boost the market, observes Fortune Business Insights in its report. The infection caused by the coronavirus, which has affected more men than women across the globe, has brought the issue of health of women in the spotlight. A UN policy brief released in April 2020 stated that women hold less secure jobs and earn lower wages, which makes them highly vulnerable to the adverse effects of this pandemic. More importantly, as the pandemic intensifies, womens health will inevitably suffer.

Industry Developments:

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Increasing Prevalence of Women-centric Diseases to Aid Growth

A leading factor aiding the womens health market growth is the rising incidence of women-specific diseases and disorders around the globe. For example, the 2018 GLOBOCAN report by the International Agency for Research on Cancer (IARC) revealed that female breast cancer diagnoses stood at 2.1 million in 2018, accounting for approximately 11.6% of the total global cancer burden.

Further, female breast cancer was the fifth leading cause of death, contributing to 6.6% of the total global deaths in 2018. Another prime example is osteoporosis in women, a disease that generally afflicts menopausal women, causing reduction in bone density. The National Osteoporosis Foundation, for example, estimates that 20% of Caucasian women aged 50 and above have osteoporosis.

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As a result of their complex internal body dynamics, management of womens health, especially post-pregnancy and post-menopause, when hormone imbalances are known to occur, requires high level of efficiency and accuracy. Products designed to facilitate effective management of women-centric diseases will, thus, play a crucial in augmenting this market in the forthcoming years.

Robust Spending on Womens Healthcare to Stoke Market Growth in North America

North America is expected to emerge as a major revenue generator for this market during the forecast period, having registered a market size of USD 18.00 billion in 2019. The primary reason for the regions dominance in the market share is the large amount of funds allocated to enhance womens healthcare across the US and Canada. This is a result of the spreading awareness about health issues and the growing prevalence of women-specific diseases in the region.

Improving healthcare infrastructure, especially in Eastern European countries, is anticipated to bolster Europes position as the second-largest region in this market. Asia Pacific is expected to grow at the highest CAGR on account of the rising awareness about the importance women health.

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Launch of Digital Health Solutions for Women to Fuel Innovation

Some of the leading players in this market that specialize in female wellness and health are coming out with path-breaking digital solutions to address the unique health issues faced by women. These solutions are aimed at enabling women to take care of their independently without affecting their daily routines.

List of Key Companies Profiled in this Market Report:

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SECONDARY RESEARCH IS CONDUCTED TO DERIVE THE FOLLOWING INFORMATION:

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Women's Health Market to Touch USD 41.05 Billion at 3.2% CAGR by 2027; Growing Focus on Women's Health Worldwide to Positively Impact the Market:...

How to Find the Best CBD Gummies

When it comes to choosing the best CBD Gummies, thorough research of reputable brands and every ingredient, extracting method, and recommended dosage will undoubtedly help ensure you get precisely what you hope and pay for. Its main ingredient is cannabidiol or CBD, the most active cannabinoid in hemp plants that carries many health benefits for users.

Many health enthusiasts see CBD as a holistic health supplement. Its popularity is in part because while it is derived from a cannabis plant, it has no intoxicating side effect, unlike its sister-cannabinoid, tetrahydrocannabinol THC. You can also find it in various forms, including CBD oil tinctures, capsules, flowers, topicals, vapes, and a lot more.

If youre thinking about dipping your toes into the world of cannabis but are hesitant about the infamous marijuana high, try out hemp-derived products instead. Most of which are low in THC and wont have any undesired side effects if taken correctly. CBD gummies are a great start; they taste delicious and dont look so daunting as other products.

There are various things to look for when shopping for the best CBD gummies. Of course, it is important to always know more about a product before purchasing it and using it for yourself. Cannabidiol has been named a generally safe substance by the World Health Organization because of its lack of potential abuse and dependency.

Due to the influx of hemp products in the market recently, not everything undergoes the Food and Drug Administration (FDA). As demands go up, so does the supply, but you have to be careful not to fall into the trap of CBD oil brands selling themselves as the panacea for everyone.

Each type of CBD product is unique and can serve you differently if you know which ones to look for. Listed below are some factors to consider before making any major purchase and incorporating the cannabinoid into your daily health routine.

Not all hemp CBD products are made the same. Most use CBD oil to infuse gummies, pills, or topicals, but these extracts are also categorized into three main types: full-spectrum , broad-spectrum CBD, or CBD isolate. The first two contain many cannabinoids, with the full-spectrum containing a meager amount of THC while the broad-spectrum stays THC-free.

Isolates are potent, coming up to around 99% of pure CBD. This one is usually the most expensive out of the three because it is more challenging to produce. Full-spectrum CBD gummies are taken by those who want to experience the entourage effect. The legal limit of 0.3 percent THC by dry weight is still observed, so no worries about any psychoactive side effects.

The entourage effect gives users the benefit of enjoying the other compounds present in the raw plant material and formula, such as terpenes, flavonoids, and other cannabinoids like CBC, CBG, and CBN. Some studies suggest that using CBD and hemp extracts with these other compounds makes the cannabinoid even more effective and long-lasting.

No matter the type of hemp oil extract, the best CBD gummies or a gummy bear are always the ones you prefer. Try out all of the above by asking your local hemp store if they sell trial size products, and see which ones serve you best.

Try looking up best CBD gummies on search engine platforms, and you will usually be linked to websites of reputable cannabis or organic hemp brands. These companies pride themselves in producing the best quality of cannabidiol in the market, with impeccable customer service, and some of their buyers might be inclined to agree.

If you head on over to their product page, try and look for a section that states the CBD oil has undergone third-party laboratory testing. It is even better if there is a link to the result of said testing somewhere on the site. These tests are done by an accredited laboratory not associated with the brand for an unbiased review of the products potency and efficiency.

Third-party lab test results also make sure you are getting CBD gummies safe from unwanted chemicals, pesticides, chemical fertilizers, and toxins. The test report also states the methods used in extracting the hemp oil extract, such as Supercritical CO2 Extraction Method. This one is considered the safest standard of extraction in the industry producing high quality cannabidiol for each product.

The hemp and CBD market can be confusing, so be sure to ask questions first and purchase later. Companies or independent labs that refuse to disclose such valuable information to their customers are not worth spending a dime on, so be careful in researching a brands background and business ethics.

Most manufacturers and avid users would agree that the secret to making the best CBD gummy packs is organically home-grown hemp of the highest quality. As the raw plant material where the oil is extracted, it is important that the hemp planted, cultivated, and harvested is done using safe and sustainable farming methods.

Not only that, but all subsequent ingredients must also be as organic, GMO-free, and vegan-friendly as possible. Premium companies help hemp farmers in breeding and harvesting the best quality of raw hemp to be used in their full-spectrum and broad-spectrum CBD gummies. This practice also boosts the local farming communities income and employment rate.

In addition to this, reputable brands always put every ingredient on their labels. These labels should always be true to the products composition, and the only way to ensure this is to be vigilant at the ingredients listed therein. Youll want your gummies to contain only natural flavorings and sweeteners made possible by infusing them with real fruit juice extracts.

One hemp brand, BlosumCBD, promises all of the aforementioned good qualities and best values listed above. Blosum CBD products are made from locally and organically-grown hemp, the cannabidiol extracted using the safest and most meticulous methods, mixed only with compounds that would enhance CBDs health benefits, undergone third-party lab testing, and packed securely.

This CBD brand also offers great deals to customers and offers discounts, sales, and free shipping within the United States with a minimum amount of purchase. Depending on your preference, Blosum does not only provide the best CBD gummies but have varying products available as well. These include their flavored oil tinctures, softgels, topicals, and pet treats.

CBD Gummies Vegan Full-Spectrum

Price: Starting at $74.99

Strength: 10 mg or 25 mg of CBD

Flavor: Mixed Fruit (Watermelon, Orange, and Strawberry)

BlosumCBDs Vegan Full-spectrum Gummies have it all! These all-natural ingredient treats are not only delicious but beneficial for a better quality of life. Each of these full-spectrum gummies contains 0.3% THC, meaning you can get the full effects of benefits like the entourage effect from the high potency level. Blosums Vegan Full-Spectrum Gummies are:

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CBD Gummies Vegan Broad-Spectrum

Price: $74.99

Strength: 25 mg of CBD

Flavor: Strawberry

If youre looking for a great gift for beginners using CBD or are just hesitant on THC, look no further than BlosumCBDs Vegan Broad-Spectrum Gummies! This 25 mg gummy is gluten-free as well as being vegan. Each of these broad-spectrum chewy treats contains zero THC, meaning you can still get the full effects of benefits like the entourage effect without the worry of consuming any THC remnants. Blosums Vegan Broad-Spectrum Gummies are:

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Much like other CBD products, CBD gummies work by having the body absorb the cannabidiol compound and work with the endocannabinoid system or ECS. The ECS is responsible for maintaining an overall balance in the body that regulates your mood, pain receptors, sleep cycle, stress levels, hormone production, and other vital processes needed to keep healthy.

When orally ingested via an edible like gummies, CBD is deposited into the bloodstream and distributed throughout the body through your natural cannabinoid receptors. It may help with many seemingly inconsequential but occurring conditions in your body, such as backaches, inflammation, migraines, difficulty sleeping, and anxiety symptoms.

There are several ways to take CBD edibles, as you may be well-informed by now. As mentioned before, CBD is considered a generally safe substance as there has been no recorded overdose on the compound to date. However, it is important to note that there is no universal dosage for any hemp product, including CBD gummies.

On average, users take one to two of the soft candies per dose, sometimes up to three times a day. This does not mean that you need to go dose it up this high, especially if it is your first time introducing the cannabinoid into your system. There are other factors to consider when doing the dosing guesswork, including your body mass and the products bioavailability.

The amount of CBD in each gummy could also affect how your body will metabolize the compound, along with its other ingredients. Different studies suggest varying dosages but listen to how your body reacts and work from there at the end of the day. Increase or decrease intake according to your desired effect.

Although it may take longer even for the best CBD gummy candy to start working, stay consistent in your product. Stay with a routine for at least 4-6 weeks. Compared to oil tinctures taken via sublingual absorption, gummies need to be digested so their absorption will be gradual. Take one gummy for your first dose and see how long it takes to take effect.

Most hemp products are relatively new to the market. Admittedly, even the science behind cannabis side effects and health benefits are fairly new and young in theory at best. There has been substantial evidence regarding CBDs anti-inflammatory, antibacterial, and antioxidant properties, but these still need a wider test audience and clinical trials.

This resulted from the decades-long cannabis ban worldwide that put a screeching halt to many scientific studies on the plant and its great potential. It is only recently that policymakers have started listening to their constituents and health experts that hemp, marijuana, and its many cannabinoids contain many modern medicine possibilities.

Now, CBD is used to help treat many conditions such as chronic pain, anxiety, and stress symptoms, sleeping difficulties, skin problems, among many others. In a more controlled space, hemp and CBD have also been used and are currently being used to help treat the symptoms of

long-term conditions like Dravet syndrome, certain types of cancer, and multiple sclerosis.

With the passage of the 2018 Farm Bill, industrial hemp was declared legal on a federal level. This comes with a restriction that no product must contain more than 0.3% THC by dry weight to be allowed for manufacturing and distribution to local stores and groceries. The hemp industry was also handed over to the jurisdiction of the Department of Agriculture and the FDA.

While federally legal, some states still abide by their strict medical marijuana programs. They prohibit any cannabis-derived products open use unless they have qualifying conditions that need the plants benefits for treatment and medicine.

Additionally, the FDA added its own set of safety nets that both hemp sellers and consumers should keep in mind. These included being aware that no CBD product in existence has been approved nor evaluated by the FDA, and any brand claiming so is playing their customers false. No hemp product is also intended to treat, cure, or diagnose any medical condition.

If you are thinking of adding the best CBD gummies to your wellness routine, it may very well be the best thing you do, considering its many wondrous health benefits. Gummies are a delicious and discreet way of trying out CBD and seeing if it agrees with you. You can take them anywhere, eat them at any time of the day, and not worry about any harsh side effects.

CBD oil is also a good, long-term supplement that is organic and all-natural. It could help maintain homeostasis in the body, give your immune system a good boost, and help with any discomforts you may be currently experiencing. The added support to the body could do you wonders, but only if you take heed of the information and tips listed above.

Be sure to inform your attending physician first before making any significant changes to your diet and health routines. Pregnant, nursing, or people with complicated medical histories may react to CBD. Cannabidiol gummies may not be for everyone but try them to find out for yourself.

Original post:
How to Find the Best CBD Gummies - Cincinnati CityBeat

Dublin, Dec. 21, 2020 (GLOBE NEWSWIRE) -- The "Genetic Testing. Global Market Forecasts for Applications and Technologies. Updated for COVID-19 Pandemic Impact with Executive and Consultant Guides 2021 to 2025" report has been added to ResearchAndMarkets.com's offering.

The role of genetics in health and disease is just now being understood. This new knowledge, combined with lower pricing is driving the Genetic Testing industry to record growth. New drugs may only work for people with a certain genetic makeup, and this too is driving the Genetic Testing Industry.

The traditional genetic testing market is growing in volume and growing in the breadth of tests creating a new life for the industry. The report forecasts the market size out to 2025. The report includes detailed breakouts for 14 countries and 5 regions.

Predictive Diagnostics? Pharmacogenomic Testing? Direct to Consumer? Find out about the technology in readily understood terms that explain the jargon. What are the issues? Find the opportunities and the pitfalls. Understand growth expectations and the ultimate market forecasts for the next five years.

Key Topics Covered:

Genetic Testing - Strategic Situation Analysis & Impact of COVID-19 Pandemic

1. Introduction and Market Definition 1.1 Genetic Testing Definition in This Report 1.2 The Genomics Revolution 1.3 Market Definition 1.3.1 Revenue Market Size1.3.1 Newborn Screening 1.3.2 Non Invasise Pregnancy Testing 1.3.3 Predictive 1.3.4 Oncology 1.3.5 Direct to Consumer 1.3.6 Other Application1.3.7 PCR 1.3.4 NGS 1.3.5 Cytogenetic1.3.6 Other Technology 1.4 U.S. Medical Market and laboratory Testing - Perspective 1.4.1 U.S. Medicare Expenditures for Laboratory Testing

2. Market Overview 2.1 Market Participants Play Different Roles 2.1.1 Supplier/pharmaceutical 2.1.2 Independent lab specialized/esoteric 2.1.3 Independent lab national/regional2.1.4 Independent lab analytical 2.1.5 Public National/regional lab 2.1.6 Hospital lab 2.1.7 Physician lab 2.1.8 DTC Lab2.1.9 Independent Genetic Testing Lab2.1.10 Audit Body2.2 Genetic Tests -Types, Examples and Discussion 2.2.1 Preimplantation Genetic Diagnosis- An Emerging Market 2.2.2 Prenatal Diagnosis - New Technologies Create Opportunity 2.2.3 Newborn Screening 2.2.2 Diagnostic Testing 2.2.3 Carrier Testing 2.2.6 Predictive and Presymptomatic Testing 2.2.7 Pharmacogenomics 2.2.8 Forensic Testing2.2.9 Parental Testing 2.2.10 Ancestral Testing2.3 Industry Structure 2.3.1 Hospital's Testing Share 2.3.2 Economies of Scale2.3.2.1 Hospital vs. Central Lab 2.3.3 Physician Office Lab's 2.3.4 Physician's and POCT 2.4 Market Shares of Key Genetics Players - Analysis

3. Market Trends3.1 Factors Driving Growth3.1.1 Genetic Discoveries Creating New Diagnostic Markets 3.1.2 Aging Population a Boon for Diagnostics3.1.3 Pharmacogenomics Drives Further Growth3.1.4 Oncology and Liquid Biopsy Enter New Era3.1.5 Fertility Practice Growth drives market 3.1.6 Direct to Consumer begins to break out 3.2 Factors Limiting Growth3.2.1 Increased Competition Lowers Price 3.2.2 Lower Costs3.2.3 Testing usage analysis curtailing growth3.2.4 Wellness has a downside 3.3 Instrumentation and Automation 3.3.1 Instruments Key to Market Share 3.3.2 Bioinformatics Plays a Role3.4 Diagnostic Technology Development3.4.1 Next Generation Sequencing Fuels a Revolution3.4.2 Impact of NGS on pricing 3.4.3 POCT/Self Testing Disruptive Force3.4.4 Pharmacogenomics Blurs Diagnosis and Treatment 3.4.5 CGES Testing, A Brave New World 3.4.6 Biochips/Giant magneto resistance based assay

4. Genetic Testing Recent Developments4.1.1 Importance of This Section 4.1.2 How to Use This Section

5. Profiles of Key Companies

6. Global Market Size6.1 Global Market by Country 6.1.1 Table - Global Market by Country6.1.2 Chart - Country Market Shares 6.2 Global Market by Application 6.2.1 Table - Global Market by Application 6.2.2 Chart - Application Share by Year 6.2.3 Chart - Application Segment Growth Rates 6.2.4 Chart - Application Segment Share Shifts6.2.5 Chart - Application Segment Share Base Year 6.2.6 Chart - Application Segment Share Final Year 6.3 Global Market by Technology 6.3.1 Table - Global Market by Technology 6.3.2 Chart - Technology Share by Year 6.3.3 Chart - Technology Segment Growth Rates 6.3.4 Chart - Technology Segment Share Shifts6.3.5 Chart - Technology Segment Share Base Year 6.3.6 Chart - Technology Segment Share Final Year

7. Market Sizes by Application 7.1 Newborn Testing Market 7.1.1 Table Newborn - by Country7.1.2 Chart - Newborn Growth 7.2 NIPT Market 7.2.1 Table NIPT - by Country 7.2.2 Chart - NIPT Growth 7.3 Predictive Testing Market7.3.1 Table Predictive - by Country 7.3.2 Chart - Predictive Growth 7.4 Oncology Testing Market7.4.1 Table Oncology - by Country 7.4.2 Chart - Oncology Growth 7.5 DTC Testing Market 7.5.1 Table DTC - by Country 7.5.2 Chart - DTC Growth 7.6 Other Testing Market 7.6.1 Table Other - by Country 7.6.2 Chart - Other Growth

8. Global Genetic Testing Market by Technology 8.1 PCR Testing Market 8.1.1 Table PCR - by Country 8.1.2 Chart - PCR Growth 8.2 NGS Market 8.2.1 Table NGS - by Country8.2.2 Chart - NGS Growth8.3 Cytogenetic Testing Market 8.3.1 Table Cytogenetic - by Country8.3.2 Cytogenetic - Predictive Growth 8.4 Other Testing Market 8.4.1 Table Other - by Country 8.4.2 Chart - Other Growth

9. The Future of Genetic Testing

10. Appendices

For more information about this report visit https://www.researchandmarkets.com/r/z52i9s

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Insights on the Genetic Testing Global Market (2021 to 2025) - Updated for COVID-19 Pandemic Impact - GlobeNewswire

A Perth researcher is hoping to make a case for the upfront use of advanced DNA testing in patients with two of the most common forms of leukaemia.

Sir Charles Gairdner Hospital haematologist Dr Xuan Ni Tan is one of five cancer researchers awarded a State Government fellowship in the latest round of the WA Cancer and Palliative Care Network Fellowship program.

She will use her fellowship to determine whether the benefits of more targeted treatment can justify the costs of using advanced gene-sequencing technology to screen patients before they start treatment.

Dr Tans retrospective study will investigate the extent to which such sequencing would have altered the course and cost of treatment of 150 WA patients with Acute Myeloid Leukaemia (AML) and Chronic Lymphocytic Leukaemia (CLL).

These two cancers are the most prevalent forms of leukaemia in adults, affecting about 2600 Australians annually.

Patients involved in Dr Tans research have already completed their treatment which they were given in accordance with contemporary treatment guidelines.

Treatment for AML typically begins with one or two rounds of intense chemotherapy (designed to achieve remission by killing as many abnormal white blood cells as possible) followed by a further four rounds to consolidate the gains of their earlier therapy.

Genetic testing currently offered to these patients flags a proportion as high-risk, requiring a bone marrow transplant for best survival. But it is estimated that up to 25 per cent of high-risk patients are missed.

These undetected patients face not only delays in accessing alternative treatments but exposure to potentially harmful therapy.

Dr Tan will see how the use of massively parallel sequencing where multiple genes are sequenced simultaneously would have influenced the treatments of her patient cohort (100 AML and 50 CLL patients) and the difference it would have made to the overall costs of their treatment.

Although the technique is more expensive than the genetic testing currently offered, Dr Tan will see if the extra cost would have been offset by the savings made from patients getting more suitable treatment earlier.

Dr Tans study is focusing on AML and CLL because of their prevalence among adults and because of the ability of advanced sequencing to detect mutations in these cancers that would change treatment selection.

Evidence of significant patient benefit without substantial additional costs would provide a case for offering the advanced sequencing upfront to all AML and CLL patients.

While 75 per cent of AML patients achieve remission from chemotherapy, most will relapse within three years. For some CLL patients, treatment will not only be ineffective but could also put them at risk of life-threatening infections and secondary cancers.

The Department of Healths Assistant Director General (Clinical Excellence) Dr James Williamson said Dr Tans research highlighted the opportunities arising from advances in human genomics that were enabling doctors to provide treatments tailored to patients individual genetics and the genetics of their cancer.

What is important about this project is that it has the potential to prevent cancer patients being subjected to unnecessary, ineffective and potentially harmful treatments while hastening their access to alternative options, he said.

The full list of fellowship recipients is

Media contact: 9222 4333Follow us on Twitter: @WAHealth

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Researcher to test value of tailored gene testing - WA Health

Genomic and ancestry analyses published in Cancer Discovery revealed that among patients with lung cancer from Latin America, Native American ancestry was associated with increased mutations in the EGFR gene, independent of smoking status.1

Researchers indicated that these findings suggest that germline genetics, rather than environmental disparities, underlie these observed disparities.

Lung cancer is the leading cause of cancer mortality, both in the United States and globally, and understanding inherited risk factors for this disease may help us to identify populations that would benefit from increased screening efforts, Matthew Meyerson, MD, PhD, director of the Center for Cancer Genomics at Dana-Farber Cancer Institute in Boston, said in a press release.2

To explore the landscape of somatic cancer mutation in lung cancers from Latin America and to evaluate the influence of germline ancestry of genetically amalgamated patient populations on these somatic alterations, the study investigators performed genomic analysis of 601 lung cancer cases from Mexico and 552 from Colombia, including 499 self-reported non-smokers. Next-generation sequencing targeting a panel of 547 cancer genes plus intronic regions of 60 cancer genes was used to identify single nucleotide variants (SNVs), indels, somatic copy number alterations (SCNAs), and gene fusions; importantly, this gene panel covered all currently known lung cancer drivers.

It was discovered that 48% of all samples harbored oncogenic mutations in EGFR, KRAS, BRAF, ERBB2, or MET, or fusions in ALK, ROS1, or RET. Moreover, 785 of 1153 samples harbored at least 1 detectable alteration in a broader set of known lung cancer driver genes also including TP53, STK11, KEAP1, SMARCA4, SETD2, MYC, and MDM2. The detected mutation frequencies of EGFR and KRAS were 30% and 10%, respectively, in the tested lung cancer samples from Mexican patients, and 23% and 13%, respectively, in the tested lung cancer samples from Colombian patients.

Using a new method developed by Jian Carrot-Zhang, PhD, and Alexander Gusev, PhD, ancestry analyses from the tumor samples was also performed in this admixed population of patients. Further, global ancestry analysis was performed to measure proportions of African, European, and Native American ancestry across the genome. In addition, local ancestry analysis was performed, which evaluates genetic ancestry at a particular chromosomal location.

After obtaining data on both somatic alteration and genetic ancestry, the next step for the researchers was assessing the correlation of these features. After adjusting for various factors, including self-reported smoking status and sample-specific tumor mutational burden, it was discovered that global Native American ancestry was positively correlated with mutations in the EGFR gene. Even further, the researchers determined that Native American ancestry was predominantly associated with oncogenic mutations in the EGFR gene, but not with non-oncogenic mutations.

Patients were then stratified by their self-reported smoking status and evaluated to determine the association between global ancestry and mutations in target genes. In both individuals who were never smokers and smokers, global Native American ancestry was found to be associated with mutations in the EGFR gene, indicating that the genomic differences associated with Native American ancestry are independent of smoking status.

Smoking increases the risk for KRAS-mutant lung cancers, while patients with lung cancer who are non-smokers more often develop EGFR-mutant lung cancer, Meyerson explained. However, we show in our study that EGFR-mutant lung cancer is also elevated among smokers with Native American ancestry.

Lastly, the investigators developed a local Native American ancestry risk score to assess the association of ancestry with EGFR mutation frequency across multiple distinct sites in the genome. In doing so, it was revealed that the correlation between ancestry and increased mutation frequency in the EGFR gene was stronger at the local genome level than the global genome level.

These results suggest that germline genetics in addition to environmental factors or socioeconomic status may have an influence on the risk of EGFR-mutant lung cancer among those with Native American ancestry, said Meyerson.

Many lung cancers are now treatable with targeted therapy or immunotherapy, Meyerson added. It is very important for patients with lung cancer to undergo somatic genetic testing to determine which treatments are most likely to be effective for their particular cancer.

Moving forward, the researchers suggested that future studies will still be necessary to comprehensively characterize lung cancer genomes from Latin American patients.

References:

1. Carrot-Zhang J, Soca-Chafre G, Patterson N, et al. Genetic ancestry contributes to somatic mutations in lung cancers from admixed Latin American populations. Cancer Discovery. doi: 10.1158/2159-8290.CD-20-1165

2. Native American Ancestry Associated With Increased Mutations in EGFR Gene Among Latin American Patients With Lung Cancer [news release]. Philadelphia. Published December 2, 2020. Accessed December 4, 2020.

Continue reading here:
Latin American Patients with Lung Cancer and Native American Ancestry See Increased EGFR Mutations - Cancer Network

BOYNTON BEACH, Fla. While all of us wait to reunite with family members once the pandemic eases up, five family members are excited to unite for the very first time.

A few months ago, with the help of genetic results from 23andMe, five siblings in five different states learned of their relationship and connected using Zoom calls and text messages.

"Those feelings, still to this day, are still so top-notch. When I talk about it or think about it I still get goosebumps," Jennilyn Hamm said.

Elaine Otway lives in Lake Kiowa, Texas. John Schiavo lives in Boynton Beach, Florida. They grew up with their shared parents and eventually welcomed half-sister Irene Schiavo, who lives in Denver, Colorado.

23andMe revealed a set of twin sisters who shared their father, John, Senior. Karla Lynch who lives in Strasburg, Pennsylvania, and Jennilyn Hamm, who lives in Smithtown, New York. The twin sisters didnt know the man they called dad their whole life wasnt of blood relation.

"There are still a million questions, but those well never get the answers to, and we just have to accept what it is, and we happily accept what this is. And Im very happy to have found our siblings and to know that we have this whole other side to our family that we never even knew about, Lynch said.

The twins say theyve remarked to each other many times through the years that it felt there was a piece missing.

Growing up both me and my sister felt like we were missing something, we werent whole. And that feeling had carried on into adulthood. And once this was discovered, I felt like there was huge healing. That hole was filling up and I no longer feel like theres something else out there. That I really feel complete now, Hamm said.

The siblings said they have several hobbies in common, and all share a deep love for animals.

"For us, it was just an instant warm connection that we all felt and it just felt normal. Very fortunate for that as well, Karla Lynch said.

Some of the siblings share a passion for cooking and baking. Theyre now shuttling homemade cookies across the country, swapping old photos, and trying to catch up face to face on Zoom.

"It's crazy to be able to look at them and be able to see my dad. Our dad. Right there, John Schiavo, Jr. said.

The physical similarities stem from mannerisms. The family has even taken time to compare photos at different stages of life.

"I think the first time we were all on Zoom, we were all playing with our hair and it was just very interesting to see these little mannerisms that you see where you come from you see the similarities, Lynch said.

While there were inklings of some kind of a story about siblings to the two eldest children through other relatives, it wasnt until August when the pieces came together.

The genetic testing and analysis company 23andMe notified the group of some new possible genetic matches in their family tree. One conversation led to another, with seemingly countless questions.

"When all this happened there was all this confusion. Did he know, how could he know, did he not know, how could he know and not be there? And all of these questions were bombarding me, explained the youngest sibling Irene Schiavo.

Irene questioned extended family members and beyond hoping for more insight. She says the result helped her heal.

"I called old neighbors, who maybe they were having a conversation in the street one day. And out of that, I got a myriad of incredible stories about our dad that I just never knew. Things that he said to a cousin, things that he said to a neighbor, she said.

The shared father, John Sr, passed away in 1990. The mother of the two eldest siblings, who grew up with their shared father, and the mother of the twins have both passed away. They are left to try to put the pieces together of what happened and why. They still havent figured out how the parents had met, and they may never know.

"It's 50 years of not being with them, around them, and their families. So it's a little disappointing. But I'm happy that were able to find this out through this wonderful thing called 23andMe," John Schiavo, Jr. said.

Hamm shares a different shade of the same emotions.

"As a little girl, I was upset not growing up with a dad. Knowing today that I did have a father who could have stepped up and been that role model father figure for me, and I was denied. My twin sister and I were denied that. [It] was hard. It was a hard pill to swallow in the beginning," Hamm said.

As the discovery unfolded in the middle of a pandemic, they have kept their meetings to a virtual setting until the time comes when they can physically hug and greet each other.

"We're just so excited that we want to get together somewhere and soon," Otway laughed.

Now, they meet for a Zoom call for two hours every Sunday, and text each other day, sharing a sense of closeness and communication.

Genetic site 23andMe says this type of reunion story is growing more common with their services.

"Although 23andMe was not designed specifically to help people confirm parentage or find biological parents, our DNA Relatives tool does help people find and connect with participating genetic relatives. This feature is completely optional, meaning customers must actively choose to participate and are informed upfront that by using the tool, they may discover unexpected relationships, according to Communications Director Andy Kill.

23andMe also said it offers additional support, information, and resources to customers who are navigating new roads.

"We've created a specific help page as a resource for those looking for more information on the accuracy of our relationship predictions, stories from others who may have experienced a similar situation, and suggested resources for additional counseling support such as BetterHelp and Talkspace," Kill said.

The siblings cant wait until their in-person reunion.

"It's a wonderful thing that that question mark was always inside me is no longer a question," Hamm said.

This story was first reported by Ashleigh Walters at WPTV in West Palm Beach, Florida.

Originally posted here:
'For us, it was just an instant warm connection:' 5 siblings to unite for the first time - KXLH Helena News

A recent comprehensive study called Global Preimplantation Genetic Testing Market 2020 by companies, regions, types and applications with a forecast up to 2025 makes a serious attempt to identify current market and competitive ideas, as well as information about regions and consumers. The report focuses on analyzing market size, trends, share, growth and driving forces. The report covers all aspects related to current trends, profitability, regional valuation and plans to expand the business of key players in the global Preimplantation Genetic Testing market The study provides an overview of the market, scale of development, market dynamics, growth challenges and influencing factors. The report includes an analysis of the key moments of the global market by major key players, by type, by applications and leading regions, as well as by segment.

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This part of the study looks at the events and future opportunities that are estimated to emerge in the global Preimplantation Genetic Testing industry. The report also sheds light on the competitive landscape by highlighting the corporate strategies that established players across geographic regions have used to move the industry forward. The research focuses on business consulting, industry chain research and consumer research to help clients propose non-linear revenue models in this market.

The Prominent Players of the Preimplantation Genetic Testing Market Are:

Thermo Fisher Scientific, Inc., Agilent Technologies, Inc., PerkinElmer, Inc., CooperSurgical, Inc., Beijing Genomics Institute (BGI), Abbott Laboratories, Natera, Inc., Genea Limited, Rubicon Genomics, Inc. and Oxford Gene Technology

Market Analysis:

The report examines the market potential of key regions, as well as the advantages, opportunities and challenges, constraints and risks faced by key players in this industry. The report covers prominent players in the global Preimplantation Genetic Testing market with detailed SWOT analysis, financial overview and key events. Other information was also included such as company profiles, product images and specifications, sales revenue, price, gross margin, market share. The market overview broadly presents different types of products, applications, players and regions. The segmentation included in the report helps readers benefit from the selection of appropriate segments for the sector.

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Coronavirus (COVID-19) is spreading around the world, having a serious impact on the economy and the global market. The report examines the impact of COVID-19 on the global Preimplantation Genetic Testing market across all segments, regions, countries and key players. North America and Europe are the countries hardest hit by the coronavirus and are key players in the global economy. The report provides a detailed analysis of market impact, growth strategies, supply disruptions in China, consumption patterns in the global Preimplantation Genetic Testing market

Global Preimplantation Genetic Testing Market Segmentation

Segmentation by Type:

by Test Type (Aneuploidy, Structural Chromosomal Abnormalities, Single Gene Disorders, X-linked Disorders, HLA Typing, Gender Identification) and Technology (Next Generation Sequencing, Polymerase Chain Reaction, Fluorescent In-Situ Hybridization, Comparative Genomic Hybridization, Single Nucleotide Polymorphism)

Regional and Country- Level Analysis:

Various geographic areas have been comprehensively explored and an economic scenario has been proposed that will help new entrants, leading market players and investors regulate emerging economies. Leading manufacturers and consumers pay attention to production, production capacity, cost, consumption, growth opportunities and market share in these key regions, covering: North America (USA, Canada, Mexico), Asia-Pacific region (China, Japan, South Korea. .. India, Australia, Indonesia, Thailand, Malaysia, Philippines, Vietnam), Europe (Germany, France, Great Britain, Italy, Russia, the rest of Europe), Central and South America (Brazil, the rest of South America), the Middle East and Africa (GCC, Turkey, Egypt, South Africa, Middle East and Africa)

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1. Executive Summary2. Assumptions and Acronyms Used3. Research Methodology4. Market Overview5. Global Market Analysis and Forecast, by Types6. Global Market Analysis and Forecast, by Applications7. Global Market Analysis and Forecast, by Regions8. North America Market Analysis and Forecast9. Latin America Market Analysis and Forecast10. Europe Market Analysis and Forecast11. Asia Pacific Market Analysis and Forecast12. Middle East & Africa Market Analysis and Forecast13. Competition Landscape

To identify correctly major underlying market forces that gradually underpin growth To comprehend future growth potential of the mentioned segments, inclusive of geographical outlook. A thorough evaluation of the entire competitive landscape gamut has been analyzed, isolating growth rendering strategies and industry forerunners To correctly isolate growth enablement determinants. The report lends clarity in understanding the commercial viability of the Preimplantation Genetic Testing market ecosystem.

Read the original:
Preimplantation Genetic Testing Market 2020 Top Countries Market Analysis and Opportunity Assessment 2025 Research Report - Farming Sector

The decision to take hormone therapy (HT) to tame symptoms of menopause can be complex. There are benefits and risksthat you must weigh with your healthcare provider. One area of emerging research is the relationship between hearing loss, menopause and hormonetherapy.

Researchers are still teasing out how menopause affects hearing. The same is true of HT:Research with mice and preliminaryhuman studies suggest that taking estrogen can have protective effects on your hearing. However, ananalysis with the largest data pool to date on the topic actually found the opposite.

If you dont currently have hearing loss, HT could increase your risk, according to a team led by Dr. Sharon Curhan, MD, a physician and epidemiologist at Brigham and Womens Hospital in Boston. This was true for both pills and patches, and for formulas with estrogen onlyor combined with progesterone.

To get down to the numbers: When Curhans team analyzed data for more than 47,000 female nurses spanning 22 years, theyconcluded that a course of HT for five to ten years increased a woman'srisk of hearing loss by 15 percent compared to a woman not taking HT.

Risk increased the longer a woman stayed on HT. The analysis also found thatwomen who undergo menopause at an older age have a higher risk of hearing loss.

Youve probably heard that drops in estrogen can trigger symptoms like hot flashes. Estrogen, a hormone, plays a role throughout the bodyin your muscles and bones, heart and brain as well as reproductive system. Scientists know we have estrogen receptors in ear cellsand in auditory pathways, but its still unknown exactly how estrogen affects hearing.

Sex hormone levels change during a menstrual cycle, and during menstruation, your hearing can become less sensitive.During perimenopausethe years before your ovaries stop releasing eggs and your period endsyour ovaries gradually produce less estrogen. In the last one to two years of perimenopause, the drop in estrogen speeds up. After your period ends, typically after age 45, the ovaries produce little estrogen but you still get some from your adrenal glands and fat tissue.

As Curhans team reports, both human and animal studies have shown that low estrogen levels can impair hearing, possibly through alterations in blood flow to the cochlea, the hollow tube in the inner ear. A separate study that measured hearing and blood levels of estradiol (a form of estrogen) in 1,830 post-menopausal women found that the volunteers with less estradiol were more likely to have hearing loss.

Another key reproductive hormone, progesterone, begins to drop in your thirties. Progesterone, which regulates pregnancy, is the yin to estrogens yang: It reduces receptor cells for estrogen. Progesterone doesnt affect the cochlea directly but it could by reducing estrogen receptors and therefore blood flow to the ear.

The link between low estrogen and impaired hearing suggests that women who arrive at menopause later, at 50 or older51 is the average age of menopause in the United Statesmight have a lower risk of hearing loss. After all, it would make sense that women who reach menopause sooner experienced earlier drops in estrogen.

However, when Curhans team looked at a pool of data on nearly 81,000 nurses, the opposite was true: The women with late natural menopause surprisingly had a 10 percent higher chance of hearing loss. The reason for this finding is unclear, since we dont have a full picture of all the factors that affect the age of menopause, Dr. Curhan told Healthy Hearing.

If you are about to start hormone therapyDr. Curhan suggests monitoring your hearing and taking HT only as long as needed.Some women have reacted to HT with sudden hearing loss, tinnitus and vertigo. Contact your provider right away if this happens to you.

If youre considering HT, youre likely to be offered a combination with progestin (a medication like progesterone) if you still have your uterus.Estrogen alone could stimulate growth of the uterus lining and increases your risk of endometrial cancer, so it's more commonly used for women who have had a hysterectomy.

If you do opt for HT, Dr. Curhan suggests monitoring your hearing and taking HT only as long as needed.Some people have reacted to HT with sudden hearing loss, tinnitus and vertigo.

The relationship between menopause, hormone replacement therapy and tinnitus is a topic that also needs more study. Some women may experience tinnitus when starting hormone therapy for perimenopause. Butstudies have also shown that hormone therapy can actually lower the rate of tinnitus in women who are perimenopausal.

We are looking forward to understanding more about risk factors for tinnitus, Dr. Curhan told Healthy Hearing. She is studying its relation to menopause and HT.

Diet, exercise, and maintaining a healthy weight all count. We found that people who ate diets that most closely resembled the Mediterranean or DASH [Dietary Approaches to Stop Hypertension] patterns had a substantially lower risk of hearing loss, Dr. Curhan said. That means eating more fish, vegetables, and whole grainsand less meat and junk food. More: How a healthy diet helps your hearing.

Also be mindful of medications linked to hearing loss. Curhans research with the same big data pool found that using the over-the-counter pain-relievers ibuprofen and acetaminophen two or more times a week may be linked to hearing loss (aspirin is OK). But there was no tie to alcohol.

Lastly, steer clear of loud or constant background noise, get your hearing checked and wear prescribed hearing aids regularly, and youll know youve done your best to prevent hearing lossas you age.

Read more:
Hearing loss, hormone therapy and menopause - Healthy Hearing

by Adrienne Berard | December 18, 2020

As we head into the holidays, W&M News spoke with Dr. Elizabeth De Falcon to learn about ways relieve stress and practice self-care over winter break, to strengthen our collective immune systems. Dr. De Falcon is a practicing physician with William & Marys Health Services. She is a licensed pediatrician and Fellow of the American Academy of Pediatrics.

In the simplest terms, stress is just your body's reaction to any change that requires response. So, it could be anything: a mental strain, a physical strain or even an emotional strain. Honestly, it's different for every person. What stresses me out may not stress you out, but if were talking about physiology, then our stress response would be mostly the same.

Without going into the specific names of all the different parts of your brain, it's just that your brain perceives stress or danger or threat. Then it sends out a signal from what is essentially the command center of your brain to the rest of your body, through the nervous system. Then the nervous system starts acting on a fight or flight response and all these different neurotransmitters and hormones get released. All these different substances start flowing through your body just to get you prepared to respond to that stressor.

A lot of times, you're not even aware of it. Most of the time the threat comes and goes, and as the threat goes away, the stress response decreases. Think of a car whizzing past you on the street. Its stressful for a second, but the feeling is very short-lived. Its important to understand that not all stress is bad. It serves an important biological purpose. The stress response has been vital to our survival and evolution. When the saber-toothed tigers were hunting us down, our bodies learned how to respond to that.

If you translate that to now, lets say you're taking a test and you feel a little bit stressed. You're supposed to have a certain level of stress, because its your bodys way of motivating you to focus on something important. After the test is done, theres this sigh of relief because that stress is gone and your body just goes back to a kind of homeostasis where it's feeling ok.

But sometimes that stress hangs around for a little while. Thats when you start running into problems. You may find that even though the threat is gone, youre not feeling better. You may be experiencing increased heart rate and breathing or generally feeling edgy all the time. Thats a sign that you're bumping over into a low-level, acute stress or chronic stress state.

Thats when we start to think about cortisol. Youve probably heard about cortisol as a stress hormone. In the moment, it actually helps your body boost its immune system and decrease inflammation, but if it's there for a long time, then you start to get into different problems.

I always tell people to seek medical help if they start seeing signs of chronic stress. Some of the red flags would be that you feel in a low mood all the time. You may stop hanging out with your friends or your family. You're just kind of retreating and not interested in the things you used to be interested in. You may be sleeping too much or too little. Some people experience physical symptoms. They have an upset stomach or heartburn or headaches, because their blood pressure is up. They might feel a knot in their chest. All of those things could be signs that you're experiencing anxiety, so you would definitely want to see your doctor at that point.

It comes down to the basics of general healthy living. For example, if youve not been on a good sleep schedule over the semester, you really need to prioritize getting on a healthy sleep scheduleand make it a realistic schedule that you can keep doing once we get back on campus. If you were not addressing your dietary needs during the semester, start to incorporate healthy, nutrient-dense types of foods into your diet.

Also, exercise is super important. Just from a perspective of improving your cardiovascular health and improving your circulation, regular exercise will help get all those immune cells pumped around your body. You don't want to smoke and try to minimize your alcohol intake.

Then, of course, what weve all been focused on over these last nine month is taking steps to minimize infections. So, being very diligent about washing your hands, keeping your distance from pretty much anyone who doesn't live in your house, and wearing a mask if you have to go out and about.

When you have a healthy immune system, when it's functional, you don't even know it's there. It's protecting you from things that are trying to kill you, viruses and bacterial infections, but you arent even aware of it.

But just like a car runs out of gas when left idling, if you are not fully addressing the things that boost your immune system, eventually that car will run out of gas and then that leads to a whole host of problems. You might start noticing that you're getting more colds or struggling to get over minor illnesses. Thats really just because when your stress response is revved up all the time, it has the opposite effect on your health and it starts down-regulating your immune system.

This is something I always recommend to my patients: practice gratitude. Its such a simple, easy thing that anyone can do. It doesn't have to be complicated. Just get a little notebook, or even make mental notes, and focus on three things that you're grateful for in a day. No matter how crummy the day is, there's always something that we can find that we can be grateful for.

Studies show that if you practice gratitude, there are positive changes in your brain that actually change your outlook on things. Along those lines, the Wellness Center has all kinds of wonderful mindfulness, meditation and exercise resources available online. They make it really easy to access, so Id also recommend trying out some of those offerings.

More here:
Tips for staying healthy and managing stress over the holidays - William & Mary News

DUBLIN, Dec. 18, 2020 /PRNewswire/ -- The "Prostate Cancer Disease Coverage Forecast and Market Analysis to 2036" report has been added to ResearchAndMarkets.com's offering.

Newly approved therapies for castration-resistant prostate cancer are set to create a shift in the way that the disease is treated, while creating a competitive environment for new market entrants.

Latest Key Takeaways

The report estimates that in 2018, there were 1.3 million incident cases of prostate cancer worldwide in males aged 40 years and older, and forecasts that number to increase to 1.5 million cases by 2027.

In the US, prostate cancer is the most common non-cutaneous malignancy diagnosed in men, and is the second-leading cause of cancer mortality in men behind lung cancer.

The overall likelihood of approval of a Phase I prostate cancer asset is 4.9%, and the average probability a drug advances from Phase III is 51.5%. Prostate cancer drugs, on average, take 9.0 years from Phase I to approval, compared to 9.5 years in the overall oncology space.

Pfizer's next-generation androgen receptor (AR) inhibitor Xtandi is the market leader in prostate cancer due to its established efficacy across prostate cancer segmentations and a lack of near-term generic competition. Bolstered by recent and planned expansions into additional prostate cancer segments, Xtandi will continue to be the leading option in this indication. Future expansion opportunities include potential use in combination with PARP inhibitors Talzenna or Rubraca in metastatic castration-resistant prostate cancer (mCRPC) patients.

Xtandi is also being trialed in combination with leuprolide in the Phase III EMBARK study for non-metastatic hormone-sensitive prostate cancer patients progressing on definitive therapy. Potential expansion into this segment represents a significant opportunity to improve outcomes earlier in the treatment paradigm, but the combination will have to demonstrate a significant benefit over existing localized treatment options to justify the additional clinical and financial toxicity of Xtandi treatment.

Since the launch of generic abiraterone in the US in November 2018, sales of Johnson & Johnson's cytochrome P450c17 inhibitor Zytiga have begun to erode. Further generic erosion is expected in the EU and Japanese markets in the next few years, decimating sales of the multi-blockbuster. Although branded Zytiga will continue to decrease in market share, use of abiraterone as part of standard regimens will continue and may expand to include several novel combinations.

The PARP inhibitors Rubraca and Lynparza were both approved in the US in May 2020 for the treatment of mCRPC patients following AR inhibitor therapy. Rubraca received accelerated conditional approval in mCRPC with a deleterious BRCA mutation (germline and/or somatic), while Lynparza received full approval for use in the broader homologous recombination deficient (HRD) population. To potentially differentiate the PARP assets, both are being trialed in the first-line setting of mCRPC; Rubraca in combination with Xtandi against Xtandi alone, and Lynparza with abiraterone against abiraterone alone. There is potential synergy with these combinations as its hypothesized that AR inhibitors may sensitize tumors to PARP treatment by reducing DNA damage repair (DDR) expression.

Late-phase PARP inhibitors Zejula and Talzenna are also being developed in combination with next-generation treatments and will join a crowded PARP treatment space. Zejula is being tested in combination with abiraterone against abiraterone alone as first-line therapy for mCRPC patients. Similarly, Talzenna is being studied in combination with physician's choice of Xtandi or enzalutamide in mCRPC patients, also as a first-line option. The potential synergy of the PARP inhibitors with AR modulators is promising, but a strong benefit will have to be seen to justify use in the front-line setting of mCRPC. If approved, it is likely that these regimens will be limited to the HRD or even BRCA populations, where they will have strong utility but somewhat limited commercial impact due to the relatively small prevalence of these biomarkers.

Next-generation AR inhibitors Nubeqa and Erleada have shifted the treatment paradigm to include these therapies in earlier segments of disease such as non-metastatic castration-resistant prostate cancer (nmCRPC) and metastatic hormone-sensitive prostate cancer (mHSPC). Expansion into earlier segments and lines of therapy is ongoing. Bayer is looking to expand Nubeqa's label to include use in very high-risk localized patients and metastatic hormone-sensitive patients. Johnson & Johnson will continue to try and differentiate Erleada with an aggressive development plan that includes potential expansions into chemotherapy-naive mCRPC patients as part of a combination with abiraterone, as well as into the localized setting for patients treated with prostatectomy or radiation therapy.

Akt inhibitors ipatasertib and capivasertib are a potential new mechanistic addition to the prostate cancer space, but the efficacy/tolerability profile of these PI3K/Akt/mTOR pathway inhibitors may prevent approval and potential usage. Ipatasertib is a pan-Akt inhibitor from Roche currently in development for asymptomatic or mildly symptomatic mCRPC patients with PTEN loss as part of a combination with abiraterone. PTEN loss is not a standard target in this indication, but represents a significant market opportunity as it is estimated to occur in approximately 20% of primary prostate cancers and up to 50% of castration-resistant tumors. However, ipatasertib is beset by known class toxicities of PI3K/Akt/mTOR pathway inhibitors such as diarrhea, rash, and ALT/AST elevations that could be detrimental to its regulatory chances. AstraZeneca's Akt inhibitor capivasertib has also demonstrated mixed results in prostate cancer.

In the Phase I/II ProCAID trial, capivasertib in combination with docetaxel failed to meet the primary endpoint of improved progression-free survival in mCRPC patients. However, the combination did improve overall survival in these patients irrespective of PI3K/Akt/mTOR pathway mutations. This has led to initiation of the Phase III CAPItello-281 trial testing capivasertib in combination with abiraterone in de novo mHSPC with PTEN loss.

Several checkpoint inhibitors are in development for prostate cancer, but late-phase data from ongoing combination trials are needed to fully determine their relative outlook in the indication. Merck is pursuing an aggressive late-phase development strategy for Keytruda in prostate cancer that includes combinations with Lynparza, Xtandi, and docetaxel for the treatment of mCRPC patients. Opdivo is also in late-phase development as part of a combination with docetaxel in mCRPC patients after failure on a next-generation hormone therapy. Finally, Roche's Tecentriq, the lone anti-PD-L1 antibody in late-phase development for prostate cancer, is currently in Phase III development in combination with Xtandi or in combination with Cabometyx in mCRPC patients after failing on a next-generation hormone therapy.

Myovant's relugolix is a GnRH receptor antagonist that is differentiated from available GnRH antagonist Firmagon by its oral formulation, which will facilitate use in patients undergoing localized definitive therapy who also need ADT and may also allow use of an intermittent ADT option in advanced hormone-sensitive patients looking to mitigate side effects and maintain quality of life.

Key Topics Covered:

OVERVIEW

DISEASE BACKGROUND

TREATMENT

EPIDEMIOLOGY

MARKETED DRUGS

PIPELINE DRUGS

KEY REGULATORY EVENTS

PROBABILITY OF SUCCESS

LICENSING AND ASSET ACQUISITION DEALS

CLINICAL TRIAL LANDSCAPE

DRUG ASSESSMENT MODEL

MARKET DYNAMICS

FUTURE TRENDS

CONSENSUS FORECASTS

RECENT EVENTS AND ANALYST OPINION

KEY UPCOMING EVENTS

KEY OPINION LEADER INSIGHTS

BIBLIOGRAPHY

APPENDIX

For more information about this report visit https://www.researchandmarkets.com/r/z438b

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

Media Contact:

Research and Markets Laura Wood, Senior Manager [emailprotected]

For E.S.T Office Hours Call +1-917-300-0470 For U.S./CAN Toll Free Call +1-800-526-8630 For GMT Office Hours Call +353-1-416-8900

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Continued here:
Global Prostate Cancer Disease Forecast and Market Analysis 2020-2036: Prescribing of Next-Generation Hormone Therapies in Earlier Treatment Settings...

A long lasting birth control option, IUDs can remain inside your body for anywhere between 3 and 10 years, depending on the type.

But when times up, that sucker has to come out! Ditto goes if you decide you want to get pregnant.

IUD removal is usually easy-freaking-peasy. Typically, a healthcare provider just pulls on the string that hangs from the device, the T arms fold in, and the little bugger comes out.

Given that, you may be wondering if its OK to remove the device on your own at home.

The short answer: Its best to have your IUD removed by a healthcare provider.

As Kimberly Langdon, an OB-GYN and medical adviser at telehealth provider Medzino puts it, IUD removal is a medical procedure.

But if thats not feasible, at-home removal can be an option.

PSA: Its possible to get your IUD removed for free or low cost, and by an affirming provider. And that stands even if your IUD insertion was costly or done by a provider who was not (ugh sorry, loves) affirming.

To find an affordable and affirming provider, check out your local:

That said, if getting to a provider isnt possible because you cant afford the removal or child care for when youre at the appointment, or some other reason, there are safe and less safe ways to remove the IUD at home.

Well walk you through how to do it as safely as possible below.

Just know before going into it that should a complication occur, youre going to have to get to a doctor ASAP.

Quick refresher: The IUD is a T-shaped device (about the size of a quarter) that gets inserted into the uterus through the cervix.

The cervix is known as the anatomical stopping point of the vagina. Its what you or your partner bumps up against when it feels like youre as deep as can be during sex.

Its also as far back as youll need to reach to grab the IUD string thats attached.

If youre squeamish about reaching that far back, you may consider asking a trusted friend or partner to lend a hand.

Due to the angle of entry, their hand will likely be able to reach further into your vagina than youd be able to.

Yes, youll need a set of hands.

But youll also probably want:

If your pal or partner is the one doing the removal, youll also probably want nitrile gloves, ring forceps, or both, which can help The Remover do said removal.

When the IUD is safely out, youll probably want some downtime.

So, be sure to have some comfy clothes, blankets and pillows, and your fave book or TV show within reach. Oh, and youll probably want some additional ibuprofen, water, and snacks, and a heating pad, too.

If theres anything that living through a pandemic has taught you, hopefully its how to wash your hands. Welp, time to draw on that new skill set, babes!

Wash your hands with warm water and fragrance-free soap. Keep on washing them until youve finished singing Happy Birthday. K?

Fail to wash your hands correctly and you could introduce bacteria to your bits that disrupt your pH, which could lead to:

Hard pass.

When your hands are dry, slip those nitrile gloves on.

Youve got two options: reclined or standing.

Which you choose will depend on a variety of factors, such as:

Lie on your back. If youre going to be removing the device yourself, pop your firmest pillow under your hips. This will bring your vaginal opening closer to your hands.

(Even better: Use a sex wedge, which will be even firmer than your sleeping pillow.)

Next, spread your knees wide and tuck them in toward your belly, suggests Langdon.

From a standing position, prop one of your feet on a tub ledge or toilet. Then take a stance similar to the one youd usually use to insert a tampon, Langdon says.

Once you get into position, youre going to bare down, which is going to bring your cervix (and uterus) closer to the vaginal opening.

To bare down, think about pushing a fart out of your vagina. Seriously, it works.

When your provider first inserted the IUD, they likely left 1 to 2 inches of string hanging for the purposes of removal, explains Kecia Gaither, MD, whos double board certified in OB-GYN and maternal fetal medicine, and the director of perinatal services at NYC Health + Hospitals/Lincoln.

Youre going to pull this string straight down in one fluid motion when you find it.

Ready to go fishing? Slide one finger into your vagina and see if you can feel the string.

The string is very, very thin. Its not like a tampon string, Langdon says. So dont be discouraged if it takes you a minute to locate.

Really cant find the string? Stop.

IUD strings can sometimes work their way up to the uterus. If this happens, removal must be done by a healthcare provider.

While rare, a missing IUD string could also be a sign of a larger issue like expulsion or perforation.

Once you find it, slide your forefinger and middle finger together and pinch the string between them. Pull straight down.

IUDs are supposed to come out pretty darn easily. If its not, something could be wrong.

The IUD, for example, could have become embedded into the uterus tissue or traveled outside of where it was initially planted, says Felice Gersh, MD, author of PCOS SOS: A Gynecologists Lifeline to Naturally Restore Your Rhythms, Hormones, and Happiness.

The doctor will know exactly how to navigate these slight complications, but you at home cant, she says.

If you try to, you risk really injuring yourself. You could tear or puncture the uterus, says Langdon.

This could result in scarring and make an infection, such a pelvic inflammatory disease, more likely to occur, Langdon says.

Yep!

Orgasms can cause muscle contractions in the pelvic floor. Those contractions may help the uterus release the IUD more easily.

The cervix naturally opens slightly during ovulation and menstruation. Removing the device during these moments in your cycle may be easier.

Just note: As soon as the IUD is removed, pregnancy is possible, Gersh says.

So, if youre going to have P-in-V intercourse and dont want to get pregnant, avoid removing the device around ovulation, which is when pregnancy is most likely.

As the IUD passes out of the uterus and into the cervix, you may experience cramping.

Expect that! Dont be alarmed by it.

Instead, keep pulling the device out. Slight cramping isnt a sign that something is wrong.

Congrats! Your uterus is free! But before you junk the little bugger, though, look at it.

Like, really look at it.

Are all the parts still there? Google the brand of device you have and compare your IUD to pictures to make sure.

Its possible for a part of the IUD to snap off and remain in the body, says Huong Nghiem-Eilbeck, MD, MPH, a provider at Pandia Health and board certified OB-GYN in Los Angeles, California.

Save all of the parts of the IUD that did come out in a baggie and then come in for an evaluation by a doctor, Nghiem-Eilbeck says.

The missing pieces can get embedded into the uterus or travel elsewhere in the reproductive tract causing things like discomfort, scarring, or even internal bleeding.

Very mild discomfort, mild cramping, and maybe some spotting are normal symptoms after removal, Nghiem-Eilbeck says. Typically, these last a few hours.

If you do experience cramping, Gaither says another dose of an NSAID like ibuprofen should be enough to relieve the pain.

Without a prescription, you can easily get and start using:

If youre looking to avoid a doctors office, you can still get access to certain prescription birth control options like the pill, patch, or ring via telemedicine companies.

Any persistent discomfort, uncomfortable symptoms, fever, or changes in your discharge arent normal, Nghiem-Eilbeck says.

If you experience these symptoms, avoid penetrative sex and see a doctor ASAP.

Its best to go to a medical professional to get your IUD removed if at all possible.

But as Nghiem-Eilbeck says, While typically not advised, self-removal is something that can be done, so long as the patient can learn how and reach the device.

Gabrielle Kassel is a New York-based sex and wellness writer and CrossFit Level 1 Trainer. Shes become a morning person, tested over 200 vibrators, and eaten, drunk, and brushed with charcoal all in the name of journalism. In her free time, she can be found reading self-help books and romance novels, bench-pressing, or pole dancing. Follow her on Instagram.

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Need to Remove Your IUD at Home? These 18 Safety Tips Will Help - Healthline

CARLSBAD, Calif., Dec. 15, 2020 /PRNewswire/ --Qualigen Therapeutics, Inc. (Nasdaq: QLGN),a biotechnology company focused on developing novel therapeutics for the treatment of cancer and infectious diseases, today announced that the United States Patent and Trademark Office has issued a patent entitled "Anti-Nucleolin Agent-Conjugated Nanoparticles as Radio-Sensitizers and/or MRI Contrast Agents" regarding the Company's ALAN (Aptamer-Linked Anti-Nucleolin) technology. This patent issued to the University of Louisville (UofL) protects the ALAN technology for use with cancer radiation therapy and for imaging tumors utilizing magnetic resonance imaging (MRI). The novel ALAN technology has several other potential applications, including its use as a monotherapy for the treatment of cancer and as a vehicle to deliver other anticancer compounds directly to tumors. In 2018, Qualigen obtained exclusive worldwide rights from the UofL for the use of the ALAN technology.

The gold nanoparticle component of ALAN is believed to enhance radiation therapy by "magnifying" the effects of radiation on the targeted tumor cells with the potential to justify lower radiation exposure and, in turn, decrease side effects. ALAN may also potentially be used in combination with MRIs to provide higher-resolution images of solid tumors and tumor cells as special imaging dyes attach to the gold nanoparticle compound.

"With the issuance of this patent, we continue to build our intellectual property portfolio as a key component to protect our technologies under development," stated Michael Poirier, Qualigen's Chairman, Chief Executive Officer and President. "ALAN is a valuable therapeutic platform technology that may be applied in numerous indications. Currently, we are evaluating strategic options on how to develop and monetize these additional applications while we continue to advance ALAN in our development pipeline against acute myeloid leukemia."

ALAN is a DNA aptamer-based anticancer drug candidate that combines the DNA aptamer AS1411 with a gold nanoparticle to dramatically increase its potency. This drug candidate has the potential to target and destroy tumor cells in a wide variety of cancer types with minimal side effects. The Company plans to commence Phase 1 human trials with ALAN in 2021 in patients with acute myeloid leukemia, its lead indication.

"The issuance of this patent for ALAN further protects this technology's potential broad applicability as a treatment for cancer," added Paula Bates, PhD, Professor of Medicine at UofL. "We look forward to our continued collaboration with Qualigen as we plan to enter this drug candidate into clinical trials as a therapeutic next year. We believe ALAN has the potential to be more targeted than available cancer treatments with the ability not to harm normal healthy cells resulting in less side effects for the patient."

Qualigen currently has 58 issued and pending patents and has in-licensed rights to a further 42 issued and pending patents.

About Qualigen Therapeutics, Inc. Qualigen Therapeutics, Inc. is a biotechnology company focused on developing novel therapeutics for the treatment of cancer and infectious diseases, as well as maintaining and expanding its core FDA-approved FastPack System, which has been used successfully in diagnostics for 20 years. The Company's cancer therapeutics pipeline includes ALAN (AS1411-GNP), RAS-F and STARS. ALAN (AS1411-GNP) is a DNA coated gold nanoparticle cancer drug candidate that has the potential to target various types of cancer with minimal side effects. The foundational nucleolin-targeting DNA aptamer of ALAN, AS1411, is also a drug candidatefor use in treating COVID-19 and other viral-based infectious diseases. RAS-F is a family of RAS oncogene protein-protein interaction inhibitor small molecules for preventing mutated RAS genes' proteins from binding to their effector proteins; preventing this binding could stop tumor growth, especially in pancreatic, colorectal and lung cancers. STARS is a DNA/RNA-based treatment device candidate for removal from circulating blood of precisely targeted tumor-produced and viral compounds. Because Qualigen's therapeutic candidates are still in the development stage, Qualigen's only products that are currently commercially available are FastPack System diagnostic instruments and test kits, used in physician offices, clinics and small hospitals around the world. The FastPack System menu includes rapid point-of-care diagnostic tests for cancer, men's health, hormone function, vitamin D status and antibodies against SARS-CoV-2. Qualigen's facility in Carlsbad, California is FDA and ISO Certified and its FastPack product line is sold worldwide by its commercial partner Sekisui Diagnostics, LLC. For more information on Qualigen Therapeutics, Inc., please visit https://www.qualigeninc.com/.

Forward-Looking Statements This news release contains forward-looking statements by the Company that involve risks and uncertainties and reflect the Company's judgment as of the date of this release. These statements include those related to prospects for ALAN, and the timing of the Company's proposed Phase 1 clinical trial of ALAN against acute myeloid leukemia. Actual events or results may differ from the Company's expectations. For example, there can be no assurance that clinical trials will be approved to begin by or will proceed as contemplated by any projected timeline; that the Company will successfully develop any drugs or therapeutic devices (or ALAN for imaging); that preclinical or clinical development of the Company's drugs or therapeutic devices (or ALAN for imaging) will be successful; that future clinical trial data will be favorable or that such trials will confirm any improvements over other products or lack negative impacts; that any drugs or therapeutic devices (or ALAN for imaging) will receive required regulatory approvals or that they will be commercially successful; that patents will issue on the Company's owned and in-licensed patent applications; that such patents, if any, and the Company's current owned and in-licensed patents would prevent competition; that the Company will be able to procure or earn sufficient working capital to complete the development, testing and launch of the Company's prospective therapeutic products (or ALAN for imaging); that the Company will be able to maintain or expand market demand and/or market share for the Company's FastPack diagnostic products generally, particularly in view of COVID-19-related deferral of patients' physician-office visits and FastPack reimbursement pricing challenges; that adoption and placement of FastPack PRO System instruments (which are the only FastPackinstruments on which the Company's SARS-CoV-2 IgGtest kits can be run) will be widespread; that the Company will be able to manufacture the FastPack PRO System instruments and SARS-CoV-2 IgGtest kits successfully; that any commercialization of the FastPack PRO System instruments and SARS-CoV-2 IgGtest kits will be profitable; or that the FDA will ultimately approve an Emergency Use Authorization for the Company's SARS-CoV-2 IgG test. The Company's stock price could be harmed if any of the events or trends contemplated by the forward-looking statements fails to occur or is delayed or if any actual future event otherwise differs from expectations. Additional information concerning these and other risk factors affecting the Company's business (including events beyond the Company's control, such as epidemics and resulting changes) can be found in the Company's prior filings with the Securities and Exchange Commission, available atwww.sec.gov. The Company disclaims any intent or obligation to update these forward-looking statements beyond the date of this news release, except as required by law. This caution is made under the safe harbor provisions of the Private Securities Litigation Reform Act of 1995.

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Qualigen Therapeutics Announces Issuance of US Patent for Expanded Applications of ALAN Anticancer Platform Technology - PRNewswire

KENILWORTH, N.J. & WOODCLIFF LAKE, N.J.--(BUSINESS WIRE)--

KEYTRUDA (pembrolizumab) Plus LENVIMA (lenvatinib) Combination Demonstrated Statistically Significant Improvement in Overall Survival, Progression-Free Survival and Objective Response Rate Versus Chemotherapy in Patients With Advanced Endometrial Cancer Following Prior Systemic Therapy in Phase 3 Study

Merck (NYSE: MRK), known as MSD outside the United States and Canada, and Eisai today announced that the pivotal Phase 3 KEYNOTE-775/Study 309 trial evaluating the investigational use of KEYTRUDA, Mercks anti-PD-1 therapy, plus LENVIMA, the orally available multiple receptor tyrosine kinase inhibitor discovered by Eisai, met its dual primary endpoints of overall survival (OS) and progression-free survival (PFS) and its secondary efficacy endpoint of objective response rate (ORR) in patients with advanced endometrial cancer following at least one prior platinum-based regimen. These positive results were observed in the mismatch repair proficient (pMMR) subgroup and the intention-to-treat (ITT) study population, which includes both patients with endometrial carcinoma that is pMMR as well as patients whose disease is microsatellite instability-high (MSI-H)/mismatch repair deficient (dMMR). Based on an analysis conducted by an independent Data Monitoring Committee, KEYTRUDA plus LENVIMA demonstrated a statistically significant and clinically meaningful improvement in OS, PFS and ORR versus chemotherapy (treatment of physicians choice [TPC] of doxorubicin or paclitaxel). The safety profile of the KEYTRUDA plus LENVIMA combination was consistent with previously reported studies. Merck and Eisai will discuss these data with regulatory authorities worldwide, with the intent to submit marketing authorization applications based on these results, and plan to present these results at an upcoming medical meeting.

Women with advanced endometrial cancer are faced with high mortality rates and limited treatment options following initial systemic therapy, said Dr. Gregory Lubiniecki, Associate Vice President, Oncology Clinical Research, Merck Research Laboratories. These are the first results from a Phase 3 trial of a combination regimen including immunotherapy in advanced endometrial carcinoma that have shown a statistically significant improvement in overall survival, progression-free survival and objective response rate versus chemotherapy. Merck and Eisai are dedicated to continuing to research the KEYTRUDA plus LENVIMA combination and discover new approaches to address unmet needs for devastating diseases such as endometrial carcinoma.

We are encouraged by the data observed in KEYNOTE-775/Study 309, which represent a possible step forward for patients impacted by advanced endometrial carcinoma and support the results seen in the advanced endometrial cancer cohort of KEYNOTE-146/Study 111, said Dr. Takashi Owa, Vice President, Chief Medicine Creation Officer and Chief Discovery Officer, Oncology Business Group at Eisai. As more clinical data from the LEAP (LEnvatinib And Pembrolizumab) program are revealed, we cannot help but be energized by the trajectory of our collaboration with Merck and the benefits we hope to provide to patients together. Most importantly, we are grateful for the trust that the patients and healthcare professionals who participated in this trial have shown us.

KEYNOTE-775/Study 309 is the confirmatory trial for KEYNOTE-146/Study 111, which supported the U.S. Food and Drug Administrations (FDA) 2019 accelerated approval of the KEYTRUDA plus LENVIMA combination for the treatment of patients with advanced endometrial carcinoma that is not MSI-H or dMMR, who have disease progression following prior systemic therapy and are not candidates for curative surgery or radiation. This accelerated approval was based on tumor response rate and durability of response and was the first approval granted under Project Orbis, an initiative of the FDA Oncology Center of Excellence that provides a framework for concurrent submission and review of oncology drugs among its international partners. Under Project Orbis, Health Canada and Australias Therapeutic Goods Administration (TGA) granted conditional and provisional approvals, respectively, for this indication.

Merck and Eisai are studying the KEYTRUDA plus LENVIMA combination through the LEAP (LEnvatinib And Pembrolizumab) clinical program in 13 different tumor types across 20 clinical trials, including a Phase 3 trial evaluating the combination in the first-line setting for patients with advanced endometrial carcinoma (LEAP-001).

About KEYNOTE-775/Study 309

KEYNOTE-775/Study 309 is a multicenter, randomized, open-label, Phase 3 trial (ClinicalTrials.gov, NCT03517449) evaluating KEYTRUDA in combination with LENVIMA in patients with advanced endometrial cancer following at least one prior platinum-based regimen. The dual primary endpoints are OS and PFS, as assessed by Blinded Independent Central Review (BICR) per Response Evaluation Criteria in Solid Tumors Version (RECIST) v1.1. Select secondary endpoints include objective response rate (ORR) by BICR per RECIST v1.1 and safety/tolerability. Of the 827 patients enrolled, 697 patients had tumors that were non-MSI-H or pMMR, and 130 patients had tumors that were MSI-H or dMMR. Patients were randomized 1:1 to receive:

About Endometrial Cancer

Endometrial cancer begins in the inner lining of the uterus, which is known as the endometrium and is the most common type of cancer in the uterus. In 2018, it was estimated there were more than 382,000 new cases and nearly 90,000 deaths from uterine body cancers worldwide (these estimates include both endometrial cancers and uterine sarcomas; more than 90% of uterine body cancers occur in the endometrium, so the actual numbers for endometrial cancer cases and deaths are slightly lower than these estimates). In the U.S., it is estimated there will be almost 66,000 new cases of uterine body cancer and nearly 13,000 deaths from the disease in 2020. The five-year survival rate for advanced or metastatic endometrial cancer (stage IV) is estimated to be approximately 17%.

About KEYTRUDA (pembrolizumab) Injection, 100 mg

KEYTRUDA is an anti-PD-1 therapy that works by increasing the ability of the bodys immune system to help detect and fight tumor cells. KEYTRUDA is a humanized monoclonal antibody that blocks the interaction between PD-1 and its ligands, PD-L1 and PD-L2, thereby activating T lymphocytes which may affect both tumor cells and healthy cells.

Merck has the industrys largest immuno-oncology clinical research program. There are currently more than 1,300 trials studying KEYTRUDA across a wide variety of cancers and treatment settings. The KEYTRUDA clinical program seeks to understand the role of KEYTRUDA across cancers and the factors that may predict a patient's likelihood of benefitting from treatment with KEYTRUDA, including exploring several different biomarkers.

Selected KEYTRUDA (pembrolizumab) Indications in the U.S.

Melanoma

KEYTRUDA is indicated for the treatment of patients with unresectable or metastatic melanoma.

KEYTRUDA is indicated for the adjuvant treatment of patients with melanoma with involvement of lymph node(s) following complete resection.

Non-Small Cell Lung Cancer

KEYTRUDA, in combination with pemetrexed and platinum chemotherapy, is indicated for the first-line treatment of patients with metastatic nonsquamous non-small cell lung cancer (NSCLC), with no EGFR or ALK genomic tumor aberrations.

KEYTRUDA, in combination with carboplatin and either paclitaxel or paclitaxel protein-bound, is indicated for the first-line treatment of patients with metastatic squamous NSCLC.

KEYTRUDA, as a single agent, is indicated for the first-line treatment of patients with NSCLC expressing PD-L1 [tumor proportion score (TPS) 1%] as determined by an FDA-approved test, with no EGFR or ALK genomic tumor aberrations, and is stage III where patients are not candidates for surgical resection or definitive chemoradiation, or metastatic.

KEYTRUDA, as a single agent, is indicated for the treatment of patients with metastatic NSCLC whose tumors express PD-L1 (TPS 1%) as determined by an FDA-approved test, with disease progression on or after platinum-containing chemotherapy. Patients with EGFR or ALK genomic tumor aberrations should have disease progression on FDA-approved therapy for these aberrations prior to receiving KEYTRUDA.

Small Cell Lung Cancer

KEYTRUDA is indicated for the treatment of patients with metastatic small cell lung cancer (SCLC) with disease progression on or after platinum-based chemotherapy and at least 1 other prior line of therapy. This indication is approved under accelerated approval based on tumor response rate and durability of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials.

Head and Neck Squamous Cell Cancer

KEYTRUDA, in combination with platinum and fluorouracil (FU), is indicated for the first-line treatment of patients with metastatic or with unresectable, recurrent head and neck squamous cell carcinoma (HNSCC).

KEYTRUDA, as a single agent, is indicated for the first-line treatment of patients with metastatic or with unresectable, recurrent HNSCC whose tumors express PD-L1 [combined positive score (CPS) 1] as determined by an FDA-approved test.

KEYTRUDA, as a single agent, is indicated for the treatment of patients with recurrent or metastatic HNSCC with disease progression on or after platinum-containing chemotherapy.

Classical Hodgkin Lymphoma

KEYTRUDA is indicated for the treatment of adult patients with relapsed or refractory classical Hodgkin lymphoma (cHL).

KEYTRUDA is indicated for the treatment of pediatric patients with refractory cHL, or cHL that has relapsed after 2 or more lines of therapy.

Primary Mediastinal Large B-Cell Lymphoma

KEYTRUDA is indicated for the treatment of adult and pediatric patients with refractory primary mediastinal large B-cell lymphoma (PMBCL), or who have relapsed after 2 or more prior lines of therapy. KEYTRUDA is not recommended for treatment of patients with PMBCL who require urgent cytoreductive therapy.

Urothelial Carcinoma

KEYTRUDA is indicated for the treatment of patients with locally advanced or metastatic urothelial carcinoma (mUC) who are not eligible for cisplatin-containing chemotherapy and whose tumors express PD-L1 (CPS 10), as determined by an FDA-approved test, or in patients who are not eligible for any platinum-containing chemotherapy regardless of PD-L1 status. This indication is approved under accelerated approval based on tumor response rate and duration of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials.

KEYTRUDA is indicated for the treatment of patients with locally advanced or metastatic urothelial carcinoma (mUC) who have disease progression during or following platinum-containing chemotherapy or within 12 months of neoadjuvant or adjuvant treatment with platinum-containing chemotherapy.

KEYTRUDA is indicated for the treatment of patients with Bacillus Calmette-Guerin (BCG)-unresponsive, high-risk, non-muscle invasive bladder cancer (NMIBC) with carcinoma in situ (CIS) with or without papillary tumors who are ineligible for or have elected not to undergo cystectomy.

Microsatellite Instability-High or Mismatch Repair Deficient Cancer

KEYTRUDA is indicated for the treatment of adult and pediatric patients with unresectable or metastatic microsatellite instability-high (MSI-H) or mismatch repair deficient (dMMR)

This indication is approved under accelerated approval based on tumor response rate and durability of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in the confirmatory trials. The safety and effectiveness of KEYTRUDA in pediatric patients with MSI-H central nervous system cancers have not been established.

Microsatellite Instability-High or Mismatch Repair Deficient Colorectal Cancer

KEYTRUDA is indicated for the first-line treatment of patients with unresectable or metastatic MSI-H or dMMR colorectal cancer (CRC).

Gastric Cancer

KEYTRUDA is indicated for the treatment of patients with recurrent locally advanced or metastatic gastric or gastroesophageal junction (GEJ) adenocarcinoma whose tumors express PD-L1 (CPS 1) as determined by an FDA-approved test, with disease progression on or after two or more prior lines of therapy including fluoropyrimidine- and platinum-containing chemotherapy and if appropriate, HER2/neu-targeted therapy. This indication is approved under accelerated approval based on tumor response rate and durability of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in the confirmatory trials.

Esophageal Cancer

KEYTRUDA is indicated for the treatment of patients with recurrent locally advanced or metastatic squamous cell carcinoma of the esophagus whose tumors express PD-L1 (CPS 10) as determined by an FDA-approved test, with disease progression after one or more prior lines of systemic therapy.

Cervical Cancer

KEYTRUDA is indicated for the treatment of patients with recurrent or metastatic cervical cancer with disease progression on or after chemotherapy whose tumors express PD-L1 (CPS 1) as determined by an FDA-approved test. This indication is approved under accelerated approval based on tumor response rate and durability of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in the confirmatory trials.

Hepatocellular Carcinoma

KEYTRUDA is indicated for the treatment of patients with hepatocellular carcinoma (HCC) who have been previously treated with sorafenib. This indication is approved under accelerated approval based on tumor response rate and durability of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in the confirmatory trials.

Merkel Cell Carcinoma

KEYTRUDA is indicated for the treatment of adult and pediatric patients with recurrent locally advanced or metastatic Merkel cell carcinoma (MCC). This indication is approved under accelerated approval based on tumor response rate and durability of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in the confirmatory trials.

Renal Cell Carcinoma

KEYTRUDA, in combination with axitinib, is indicated for the first-line treatment of patients with advanced renal cell carcinoma (RCC).

Endometrial Carcinoma

KEYTRUDA, in combination with LENVIMA, is indicated for the treatment of patients with advanced endometrial carcinoma that is not MSI-H or dMMR, who have disease progression following prior systemic therapy and are not candidates for curative surgery or radiation. This indication is approved under accelerated approval based on tumor response rate and durability of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in the confirmatory trial.

Tumor Mutational Burden-High

KEYTRUDA is indicated for the treatment of adult and pediatric patients with unresectable or metastatic tumor mutational burden-high (TMB-H) [10 mutations/megabase] solid tumors, as determined by an FDA-approved test, that have progressed following prior treatment and who have no satisfactory alternative treatment options. This indication is approved under accelerated approval based on tumor response rate and durability of response. Continued approval for this indication may be contingent upon verification and description of clinical benefit in the confirmatory trials. The safety and effectiveness of KEYTRUDA in pediatric patients with TMB-H central nervous system cancers have not been established.

Cutaneous Squamous Cell Carcinoma

KEYTRUDA is indicated for the treatment of patients with recurrent or metastatic cutaneous squamous cell carcinoma (cSCC) that is not curable by surgery or radiation.

Triple-Negative Breast Cancer

KEYTRUDA, in combination with chemotherapy, is indicated for the treatment of patients with locally recurrent unresectable or metastatic triple-negative breast cancer (TNBC) whose tumors express PD-L1 (CPS 10) as determined by an FDA-approved test. This indication is approved under accelerated approval based on progression-free survival. Continued approval for this indication may be contingent upon verification and description of clinical benefit in the confirmatory trials.

Selected Important Safety Information for KEYTRUDA

Severe and Fatal Immune-Mediated Adverse Reactions

KEYTRUDA is a monoclonal antibody that belongs to a class of drugs that bind to either the programmed death receptor-1 (PD-1) or the programmed death ligand 1 (PD-L1), blocking the PD-1/PD-L1 pathway, thereby removing inhibition of the immune response, potentially breaking peripheral tolerance and inducing immune-mediated adverse reactions. Immune-mediated adverse reactions, which may be severe or fatal, can occur in any organ system or tissue, can affect more than one body system simultaneously, and can occur at any time after starting treatment or after discontinuation of treatment.

Monitor patients closely for symptoms and signs that may be clinical manifestations of underlying immune-mediated adverse reactions. Early identification and management are essential to ensure safe use of antiPD-1/PD-L1 treatments. Evaluate liver enzymes, creatinine, and thyroid function at baseline and periodically during treatment. In cases of suspected immune-mediated adverse reactions, initiate appropriate workup to exclude alternative etiologies, including infection. Institute medical management promptly, including specialty consultation as appropriate.

Withhold or permanently discontinue KEYTRUDA depending on severity of the immune-mediated adverse reaction. In general, if KEYTRUDA requires interruption or discontinuation, administer systemic corticosteroid therapy (1 to 2 mg/kg/day prednisone or equivalent) until improvement to Grade 1 or less. Upon improvement to Grade 1 or less, initiate corticosteroid taper and continue to taper over at least 1 month. Consider administration of other systemic immunosuppressants in patients whose adverse reactions are not controlled with corticosteroid therapy.

Immune-Mediated Pneumonitis

KEYTRUDA can cause immune-mediated pneumonitis. The incidence is higher in patients who have received prior thoracic radiation. Immune-mediated pneumonitis occurred in 3.4% (94/2799) of patients receiving KEYTRUDA, including fatal (0.1%), Grade 4 (0.3%), Grade 3 (0.9%), and Grade 2 (1.3%) reactions. Systemic corticosteroids were required in 67% (63/94) of patients. Pneumonitis led to permanent discontinuation of KEYTRUDA in 1.3% (36) and withholding in 0.9% (26) of patients. All patients who were withheld reinitiated KEYTRUDA after symptom improvement; of these, 23% had recurrence. Pneumonitis resolved in 59% of the 94 patients.

Pneumonitis occurred in 8% (31/389) of adult patients with cHL receiving KEYTRUDA as a single agent, including Grades 3-4 in 2.3% of patients. Patients received high-dose corticosteroids for a median duration of 10 days (range: 2 days to 53 months). Pneumonitis rates were similar in patients with and without prior thoracic radiation. Pneumonitis led to discontinuation of KEYTRUDA in 5.4% (21) of patients, 42% of these patients interrupted KEYTRUDA, 68% discontinued KEYTRUDA, and 77% had resolution.

Immune-Mediated Colitis

KEYTRUDA can cause immune-mediated colitis, which may present with diarrhea. Cytomegalovirus infection/reactivation has been reported in patients with corticosteroid-refractory immune-mediated colitis. In cases of corticosteroid-refractory colitis, consider repeating infectious workup to exclude alternative etiologies. Immune-mediated colitis occurred in 1.7% (48/2799) of patients receiving KEYTRUDA, including Grade 4 (<0.1%), Grade 3 (1.1%), and Grade 2 (0.4%) reactions. Systemic corticosteroids were required in 69% (33/48); additional immunosuppressant therapy was required in 4.2% of patients. Colitis led to permanent discontinuation of KEYTRUDA in 0.5% (15) and withholding in 0.5% (13) of patients. All patients who were withheld reinitiated KEYTRUDA after symptom improvement; of these, 23% had recurrence. Colitis resolved in 85% of the 48 patients.

Hepatotoxicity and Immune-Mediated Hepatitis

KEYTRUDA as a Single Agent

KEYTRUDA can cause immune-mediated hepatitis. Immune-mediated hepatitis occurred in 0.7% (19/2799) of patients receiving KEYTRUDA, including Grade 4 (<0.1%), Grade 3 (0.4%), and Grade 2 (0.1%) reactions. Systemic corticosteroids were required in 68% (13/19) of patients; additional immunosuppressant therapy was required in 11% of patients. Hepatitis led to permanent discontinuation of KEYTRUDA in 0.2% (6) and withholding in 0.3% (9) of patients. All patients who were withheld reinitiated KEYTRUDA after symptom improvement; of these, none had recurrence. Hepatitis resolved in 79% of the 19 patients.

KEYTRUDA with Axitinib

KEYTRUDA in combination with axitinib can cause hepatic toxicity. Monitor liver enzymes before initiation of and periodically throughout treatment. Consider monitoring more frequently as compared to when the drugs are administered as single agents. For elevated liver enzymes, interrupt KEYTRUDA and axitinib, and consider administering corticosteroids as needed. With the combination of KEYTRUDA and axitinib, Grades 3 and 4 increased alanine aminotransferase (ALT) (20%) and increased aspartate aminotransferase (AST) (13%) were seen, which was at a higher frequency compared to KEYTRUDA alone. Fifty-nine percent of the patients with increased ALT received systemic corticosteroids. In patients with ALT 3 times upper limit of normal (ULN) (Grades 2-4, n=116), ALT resolved to Grades 0-1 in 94%. Among the 92 patients who were rechallenged with either KEYTRUDA (n=3) or axitinib (n=34) administered as a single agent or with both (n=55), recurrence of ALT 3 times ULN was observed in 1 patient receiving KEYTRUDA, 16 patients receiving axitinib, and 24 patients receiving both. All patients with a recurrence of ALT 3 ULN subsequently recovered from the event.

Immune-Mediated Endocrinopathies

Adrenal Insufficiency

KEYTRUDA can cause primary or secondary adrenal insufficiency. For Grade 2 or higher, initiate symptomatic treatment, including hormone replacement as clinically indicated. Withhold KEYTRUDA depending on severity. Adrenal insufficiency occurred in 0.8% (22/2799) of patients receiving KEYTRUDA, including Grade 4 (<0.1%), Grade 3 (0.3%), and Grade 2 (0.3%) reactions. Systemic corticosteroids were required in 77% (17/22) of patients; of these, the majority remained on systemic corticosteroids. Adrenal insufficiency led to permanent discontinuation of KEYTRUDA in <0.1% (1) and withholding in 0.3% (8) of patients. All patients who were withheld reinitiated KEYTRUDA after symptom improvement.

Hypophysitis

KEYTRUDA can cause immune-mediated hypophysitis. Hypophysitis can present with acute symptoms associated with mass effect such as headache, photophobia, or visual field defects. Hypophysitis can cause hypopituitarism. Initiate hormone replacement as indicated. Withhold or permanently discontinue KEYTRUDA depending on severity. Hypophysitis occurred in 0.6% (17/2799) of patients receiving KEYTRUDA, including Grade 4 (<0.1%), Grade 3 (0.3%), and Grade 2 (0.2%) reactions. Systemic corticosteroids were required in 94% (16/17) of patients; of these, the majority remained on systemic corticosteroids. Hypophysitis led to permanent discontinuation of KEYTRUDA in 0.1% (4) and withholding in 0.3% (7) of patients. All patients who were withheld reinitiated KEYTRUDA after symptom improvement.

Thyroid Disorders

KEYTRUDA can cause immune-mediated thyroid disorders. Thyroiditis can present with or without endocrinopathy. Hypothyroidism can follow hyperthyroidism. Initiate hormone replacement for hypothyroidism or institute medical management of hyperthyroidism as clinically indicated. Withhold or permanently discontinue KEYTRUDA depending on severity. Thyroiditis occurred in 0.6% (16/2799) of patients receiving KEYTRUDA, including Grade 2 (0.3%). None discontinued, but KEYTRUDA was withheld in <0.1% (1) of patients.

Hyperthyroidism occurred in 3.4% (96/2799) of patients receiving KEYTRUDA, including Grade 3 (0.1%) and Grade 2 (0.8%). It led to permanent discontinuation of KEYTRUDA in <0.1% (2) and withholding in 0.3% (7) of patients. All patients who were withheld reinitiated KEYTRUDA after symptom improvement. Hypothyroidism occurred in 8% (237/2799) of patients receiving KEYTRUDA, including Grade 3 (0.1%) and Grade 2 (6.2%). It led to permanent discontinuation of KEYTRUDA in <0.1% (1) and withholding in 0.5% (14) of patients. All patients who were withheld reinitiated KEYTRUDA after symptom improvement. The majority of patients with hypothyroidism required long-term thyroid hormone replacement. The incidence of new or worsening hypothyroidism was higher in 1185 patients with HNSCC, occurring in 16% of patients receiving KEYTRUDA as a single agent or in combination with platinum and FU, including Grade 3 (0.3%) hypothyroidism. The incidence of new or worsening hypothyroidism was higher in 389 adult patients with cHL (17%) receiving KEYTRUDA as a single agent, including Grade 1 (6.2%) and Grade 2 (10.8%) hypothyroidism.

Type 1 Diabetes Mellitus (DM), Which Can Present With Diabetic Ketoacidosis

Monitor patients for hyperglycemia or other signs and symptoms of diabetes. Initiate treatment with insulin as clinically indicated. Withhold KEYTRUDA depending on severity. Type 1 DM occurred in 0.2% (6/2799) of patients receiving KEYTRUDA. It led to permanent discontinuation in <0.1% (1) and withholding of KEYTRUDA in <0.1% (1). All patients who were withheld reinitiated KEYTRUDA after symptom improvement.

Immune-Mediated Nephritis With Renal Dysfunction

KEYTRUDA can cause immune-mediated nephritis. Immune-mediated nephritis occurred in 0.3% (9/2799) of patients receiving KEYTRUDA, including Grade 4 (<0.1%), Grade 3 (0.1%), and Grade 2 (0.1%) reactions. Systemic corticosteroids were required in 89% (8/9) of patients. Nephritis led to permanent discontinuation of KEYTRUDA in 0.1% (3) and withholding in 0.1% (3) of patients. All patients who were withheld reinitiated KEYTRUDA after symptom improvement; of these, none had recurrence. Nephritis resolved in 56% of the 9 patients.

Immune-Mediated Dermatologic Adverse Reactions

KEYTRUDA can cause immune-mediated rash or dermatitis. Exfoliative dermatitis, including Stevens-Johnson syndrome, drug rash with eosinophilia and systemic symptoms, and toxic epidermal necrolysis, has occurred with antiPD-1/PD-L1 treatments. Topical emollients and/or topical corticosteroids may be adequate to treat mild to moderate nonexfoliative rashes. Withhold or permanently discontinue KEYTRUDA depending on severity. Immune-mediated dermatologic adverse reactions occurred in 1.4% (38/2799) of patients receiving KEYTRUDA, including Grade 3 (1%) and Grade 2 (0.1%) reactions. Systemic corticosteroids were required in 40% (15/38) of patients. These reactions led to permanent discontinuation in 0.1% (2) and withholding of KEYTRUDA in 0.6% (16) of patients. All patients who were withheld reinitiated KEYTRUDA after symptom improvement; of these, 6% had recurrence. The reactions resolved in 79% of the 38 patients.

Other Immune-Mediated Adverse Reactions

The following clinically significant immune-mediated adverse reactions occurred at an incidence of <1% (unless otherwise noted) in patients who received KEYTRUDA or were reported with the use of other antiPD-1/PD-L1 treatments. Severe or fatal cases have been reported for some of these adverse reactions. Cardiac/Vascular: Myocarditis, pericarditis, vasculitis; Nervous System: Meningitis, encephalitis, myelitis and demyelination, myasthenic syndrome/myasthenia gravis (including exacerbation), Guillain-Barr syndrome, nerve paresis, autoimmune neuropathy; Ocular: Uveitis, iritis and other ocular inflammatory toxicities can occur. Some cases can be associated with retinal detachment. Various grades of visual impairment, including blindness, can occur. If uveitis occurs in combination with other immune-mediated adverse reactions, consider a Vogt-Koyanagi-Harada-like syndrome, as this may require treatment with systemic steroids to reduce the risk of permanent vision loss; Gastrointestinal: Pancreatitis, to include increases in serum amylase and lipase levels, gastritis, duodenitis; Musculoskeletal and Connective Tissue: Myositis/polymyositis, rhabdomyolysis (and associated sequelae, including renal failure), arthritis (1.5%), polymyalgia rheumatica; Endocrine: Hypoparathyroidism; Hematologic/Immune: Hemolytic anemia, aplastic anemia, hemophagocytic lymphohistiocytosis, systemic inflammatory response syndrome, histiocytic necrotizing lymphadenitis (Kikuchi lymphadenitis), sarcoidosis, immune thrombocytopenic purpura, solid organ transplant rejection.

Infusion-Related Reactions

KEYTRUDA can cause severe or life-threatening infusion-related reactions, including hypersensitivity and anaphylaxis, which have been reported in 0.2% of 2799 patients receiving KEYTRUDA. Monitor for signs and symptoms of infusion-related reactions. Interrupt or slow the rate of infusion for Grade 1 or Grade 2 reactions. For Grade 3 or Grade 4 reactions, stop infusion and permanently discontinue KEYTRUDA.

Complications of Allogeneic Hematopoietic Stem Cell Transplantation (HSCT)

Fatal and other serious complications can occur in patients who receive allogeneic HSCT before or after antiPD-1/PD-L1 treatment. Transplant-related complications include hyperacute graft-versus-host disease (GVHD), acute and chronic GVHD, hepatic veno-occlusive disease after reduced intensity conditioning, and steroid-requiring febrile syndrome (without an identified infectious cause). These complications may occur despite intervening therapy between antiPD-1/PD-L1 treatment and allogeneic HSCT. Follow patients closely for evidence of these complications and intervene promptly. Consider the benefit vs risks of using antiPD-1/PD-L1 treatments prior to or after an allogeneic HSCT.

Increased Mortality in Patients With Multiple Myeloma

In trials in patients with multiple myeloma, the addition of KEYTRUDA to a thalidomide analogue plus dexamethasone resulted in increased mortality. Treatment of these patients with an antiPD-1/PD-L1 treatment in this combination is not recommended outside of controlled trials.

Go here to read the rest:
KEYTRUDA (pembrolizumab) Plus LENVIMA (lenvatinib) Combination Demonstrated Statistically Significant Improvement in Overall Survival,...

A geyser of dust engulfs the tires of Karl Millers silver pickup as the truck comes to an abrupt stop on a narrow dirt trail. Dodging the outstretched jazz hands of palmettos and the tangle of scrub on both sides, he slowly opens the back door to unload two soft, mailbox-size carriers covered with a bedsheet. Each contains precious cargo: a single Florida Scrub-Jay that Miller collected in the predawn gray from Ocala National Forest, just north of Orlando, and drove four hours south to Jonathan Dickinson State Park, an 18-square-mile coastal preserve near Palm Beach. The bonded pair in his truck are valuable not only because theyre among a shrinking number of Floridas lone endemic bird species, but also because Miller has hand-selected them, along with a few other families, to be a part of an ambitious experiment.

Over the past century, human development in Florida has split the jays scrub habitat into ever smaller pieces. Because the blue-and-gray, robin-size bird typically travels no more than five miles from home, this subdivision has shrunk the species deep gene pool to a series of tiny puddles. Now Sarah Fitzpatrick, a conservation geneticist at Michigan State University, is collaborating with Miller at the Florida Fish and Wildlife Conservation Commission to translocate 5 to 10 scrub-jays from Ocala to Jonathan Dickinson (or JD, as the locals call it). The pairs hope is that the offspring of the Ocala birds will mate with those at JD, giving subsequent generations a much-needed boost of fresh DNA.

This strategy, called genetic rescue, is neither high-tech nor new, but it is still relatively untested. Scientists have long hesitated to play God with the genes of wild animals, preferring to let evolution manage itself. But several small-scale successes using the tactic in the 1990s, including with the Florida panther and Greater Prairie-Chicken, have made the strategy a more palatable option for species that may be circling the drain. Were in such early stages of using this as a tool for conservation in general. I mean, theres only just a handful of kind of iconic studies that have done this so far, Fitzpatrick says.

At JD, Fitzpatrick, Miller, and research assistant Natasha Lehr carefully walk the carriers to a small half-circle clearing next to a stand of scrub oaks, whose arthritic limbs have braided together over time. Miller unzips one carrier, Lehr the other. Fitzpatricks job is to track where the birds go whenthey fly off. Millers bird, a male, makes it out first and perches on a nearby snag before dropping out of view into the dense brush. Seconds drag by. The male calls to the female, a strident pshpshpsh. Finally she shoots out in a streak of dull blue and gray and then she, too, disappears.

One factor that makes this prized species an ideal candidate for genetic rescue is the several decades of close study leading up to this moment. This work has demonstrated that the jays genetic health is a problem that conservationists need to be worried aboutand also has positioned Fitzpatrick to test a solution. Its a role that she was truly born into.

J

ohn Fitzpatricks love affair with the Florida Scrub-Jay began in 1972 as a summer intern at the Archbold Biological Station. The Harvard undergraduate made the long drive to the dusty town of Venus, then, as now, surrounded by cattle ranches and citrus groves. In the oppressive heat, he helped ornithologist Glen Woolfenden observe scrub-jays tending their offspring. Three years before, Woolfenden had noticed the fledglings at Archbold rarely left their nests. Instead, the youngsters stuck around for at least a year to help their parents raise the next few clutches before striking out. Even then these ultimate homebodies rarely went far. They wouldnt readily traverse any land that didnt look like home. Without contiguous scrub, the scientists realized, the jays would rapidly become isolated.

The work stretched into a 50-year study that provided insights on everything from the effect of food on jay reproduction to the birds dependence on landscapes burned by fire. Today decades worth of yellow Rite in the Rain notebooks fill waist-high bookshelves at Archbold, while index cards with old notes on nest activity occupy a metal filing cabinet. People ask, After 50 years havent you learned everything? But these 50 years give us a chance to ask questions that are brand new, says John, who is now director of the Cornell Laboratory of Ornithology in New York.

In 1988, when John moved his young family to Archbold to take over as the stations director, he had his two-year-old daughter Sarah in tow. Archbolds scrub-jays were a part of Sarahs life growing up, but she preferred to keep company with insects, reptiles, and amphibians. When a gopher tortoise she named Sammy lumbered into their backyard, Sarah raced to her bedroom, grabbed one of her fathers cast-off notebooks, and spent the next few hours sitting on the back porch of the familys white clapboard cottage noting every detail of what Sammy did. It was, John said, the first of many signs that Sarah loved the natural world as much as he did.

Meanwhile, John was watching the regions scrub-jay population in free fall, as predicted by those early observations. The dry, sandy scrub landscape the birds needed also attracted citrus growers and the developers of shopping malls, mobile home parks, and golf courses. The mid-century boom in air conditioning made Florida habitable for the masses, creating a Southern influx that fractured the wilderness needed by Florida panthers, which were among the first animals on the federal endangered species list in the late 1960s.

The scrub-jay, too, was declared federally threatened in 1987. By 1993 only 4,000 breeding pairs remained, a loss of more than 90 percent in a century. Since then, Miller says, their overall decline has continued. The jays are scattered over several hundred small patches of scrub that survive with the help of land managers (see Each Jay Counts). Every 3 to 12 years they light controlled fires, which maintain foraging habitat for the birds and clear the dense tangles of brambles where predators like the eastern coachwhip snake can hide. The Archbold study area, home to 80 families of scrub-jays across just about 2,500 acres, is one of the species remaining strongholds, along with Ocala National Forest.

Every month, a team led by Reed Bowman, who now directs the avian ecology program at Archbold, still bounces around the areas rutted dirt trails to keep up the long-running counts. Once the birds hatch between late March and the end of June, scientists begin the banding process and, since 1995, also take a drop of blood for genetic analysis. Even at Archbold, despite adequate habitat maintenance, they saw few scrub-jays coming to the reserve, likely because of the degradation of habitat around the station. The effect on Archbolds families was dramatic.

In 2013 population geneticist Nancy Chen, then working with John at Cornell, began analyzing some of the genetic data and mapping family trees. The birds, she reported in 2016, were becoming increasingly and surprisingly inbred. A healthy population with lots of genetic diversity plays with a full deck of 52 cards. Smaller populations have fewer cards, such that no matter how well the deck is shuffled between generations, chicks are still more likely to draw a pair thats harmful, which can lead to disease and death. The more closely related two parents, the lower their offsprings chances of reaching adulthood.

One sign of an inbred population is eggs that fail to hatch, which is occurring at Archbold with increasing frequency. If this was true at Archbold, it was likely the case elsewhere. It kind of freaked out the scrub-jay community, says Chen, now a researcher at the University of Rochester.

Chens scrub-jay work was groundbreaking for conservation biologists not only because it quantified the effect of inbreeding, Bowman says, but also because she showed that the influx of even a handful of outsiders could be crucial to the health of larger populations. These results also told Chen and her colleagues that simply protecting and expanding habitat wouldnt be enough to save genetically isolated populations of scrub-jays throughout Florida. The birds needed an infusion of fresh genes, and for that, they needed help.

A

lthough Darwin himself outlined the principle of genetic rescue, the actual practice remained hugely controversial for more than a century. Not only did many hold philosophical objections to the idea, they could also point to several natural and laboratory experiments in which translocating individuals failed in ways hard to predict in advancea high-stakes risk when dealing with small populations. One of the most famous was a 1950s field study in which ibex from Turkey and Sinai were brought to what was then Czechoslovakia. When the hybrid ibex gave birth at the coldest time of year, and the population died out, the move was deemed to be a bust. Likewise, in a lab experiment in the late 1980s, Scripps Institution of Oceanography researchers tried to see if tiny crustaceans from Baja California could mate with their counterparts off the coast of Vancouver. Although the first generation appeared fine, the second was not.

A chill settled over the field, but in the 1990s biologists in Florida couldnt sit back and watch as their native panthers were winking out. Only 22 remained in the stateand few were healthy. Texas pumas, scientists discovered, had the right balance of attributes to help: They were genetically different enough to bring in new variety while similar enough to allow crossbreeding. Florida panther numbers immediately rebounded, and the genetics of the population, now 120 to 230 animals strong, remains healthy today. At around the same time, scientists tried something similar with the Greater Prairie-Chicken, importing birds from Minnesota, Kansas, and Nebraska to bolster flagging numbers in Illinois. It, too, seemed to be a success.

In these cases, conservationists had turned to genetic rescue in a last-ditch attempt to save extremely imperiled species or populations. There was little choice. But to further refine and perhaps expand the use of genetic rescue, evolutionary biologist Chris Funk wanted to know how such a strategy actually affected the genetics of the resulting populationespecially when a species was only waning rather than near its curtain call. In these cases, there might be the potential to act earlier, with a different risk-reward calculus at stake.

Sarah joined Funks lab in 2010 to try to answer this question by studying Trinidadian guppies. Evolutionary biologists had noticed that the paper-clip-size fish living at a streams headwater looked and acted differently than those at the end due to differences in the number of predators. Whats more, in many streams, the guppies at the headwaters had become isolated from their downstream brethren, and their numbers seemed to be slowly declining. Slogging through Trinidads rainforests, researchers moved a small number of downstream guppies upriver, and Sarah studied the effects of the new guppies on the resulting headwater population guppy boom. Importantly, Sarah showed that the genes from the downstream fish didnt overpower the hybrid offsprings ability to survive in the headwater environment. This offered the best of both worlds: increased genetic variety, while maintaining headwater specificity. The work, Funk says, showed not just whether but how genetic rescue could work in the wild.

Sarah started her own lab at Michigan State University a year after Chen published her preliminary genetics studies. To Chen and John Fitzpatrick, it was becoming clear that the scrub-jays could benefit from such an experiment. Although Sarah preferred fish to birds, she didnt hesitate to return to her roots. Seeing an opportunity to apply her work, she, Chen, and her dad decided to collaborate to save the species that once perched on her head.

The research at Archbold provided an invaluable baseline: It offered a chance to understand how the genetic rescue process might work for the species, gene by gene. The data also supported Chen and Sarahs assertion that they wouldnt need to move hundreds of birds to JD to see a benefit; even a few families should provide a solid genetic boost to small, isolated groups. If they are successful, Sarah hopes their work could help conservation biologists consider the tactic in more cases. Funk, Sarahs former Ph.D. adviser, agrees: This is probably one of the best systems in the world to understand genetic rescue, he says.

Finding a donor population was easy. Miller had been banding and monitoring the birds at Ocala since 2014. Over that time, he had moved 49 jays from the national forest, home of more than one-third of the species, to bolster the birds numbers in nearby parks and had seen it hadnt harmed the Ocala population. The bigger question was where to put them. An ambitious new fire-management program at JD had opened acres of perfect habitat, leaving room for newcomers. Miller and John hammered out how to select the migrs and where to release them in the park. The researchers wanted healthy birds that had raised at least one fledgling, which would indicate their skill as parents and their genetic health. Since scrub-jays lived as families, theyd move them together.

In early 2019 the researchers moved a first family group, a total of three birds, from Ocala to JD, where there were fewer than 25 families left. That group did not successfully breed that year, something that Sarah and Miller expected might result from the stress of the move. But one breeding female either died or left the park between June 2019 and January 2020. The now single male was then spotted with a solo female at JD, making the team optimistic that the new, mixed pair might breed. The sign was encouraging enough that by January 2020, Miller, Sarah, and John thought it was time to try again.

L

ehr and Sarah climb a low rise at JD, binoculars at the ready, with Miller on their tail. In the trios laser focus on the scrub, an impenetrable snarl of cacti and cabbage palms, they almost miss the scrub-jay pair from Ocala doubling back, turning northwest on a short flight over the release site and onto a sand pine snag.

The team regroups in a clearing 20 feet behind the birds, while an Eastern Phoebe watches on. Miller appraises them, his round tortoiseshell glasses giving him an owlish look as he scratches at stubble from his 4 a.m. wakeup time. For several hours they watch the Ocala pair bounce between the snag and nearby scrub oaks, calling back and forth. Then the birds hop to the ground and fall silenta siesta to escape the pounding sun.

Scattered

About

Surveys of Florida

Scrub-Jay family

groups on conservation

lands reveal their

dwindling and patchy

distribution, according

to 2019 data.

Likely Extirpated or Extirpated

MAP BY JULIE ROSSMAN; DATA COMPILED BY ARCHBOLD BIOLOGICAL

STATION, USFWS, AND AUDUBON FLORIDA

Lehr, Sarah, and Miller meet early the following morning to check whether the home-turf jays have chased off their new neighbors. As the sun burns off the morning haze, the trio seeks the transplants on a ridge where they spent the night. Sarah cups her hands and calls to the jays. Her voice turns raspy and she gives up within an hour. Heading deeper into the park, Sarah coaxes a group of scrub-jays closer with peanuts, to see whether they might be the translocated pair. They arent. She squats to snap photos. Hello, she laughs. Are you guys inbred?

Breaking for a lunch of fish tacos, the team discusses their goals for the scrub-jays. Using utensils and a salt-and-pepper shaker as landmarks, they map out the states current populations on the table. Several other populations sit along the coast, trapped between built-up beachfronts and swampy lowlands. Restoring scrub habitat between JD and these areas could one day allow the populations to merge into a larger, healthier group that might not need humans to move birds at all.

Its a crucial long-term goal, says Marianne Korosy, director of bird conservation at Audubon Florida. Genetic rescue is, at best, only part of the solution, she says: We still have to have prescribed fire management, and we still have to have enough land set aside in conservation to grow populations of jays. The prairie-chickens of Illinois provide a cautionary tale. The movement of birds bolstered the states numbers, but because biologists didnt address the underlying causes that led to inbreeding, the population is once again imperiled. Similarly, humans will have to help scrub-jays for the foreseeable future, both by increasing their genetic diversity and by protecting their landscape.

In the coming years, Sarah and Chen intend to track the new transplants closely, collecting blood samples to evaluate the genetic health of birds at JD and at Archbold, where the populations ongoing isolation will serve as a long-term comparison. This work will also help identify the minimum size of a healthy scrub-jay population, a key piece of information for conservationists. If Sarah sees that the 2019 and 2020 transplants survive their first year or two at JD, then she and Miller may bring several more families to the park. The team discussed performing additional genetic rescues, including to Indian River County just north of JD, once a stronghold of the species.

Fortified by lunch, the group focuses their search for the translocated birds on the area where they were last seen yesterday. Several sweaty hours of trekking left their Carhartts studded with prickly pear spines, but no scrub-jays flew close enough to identify. Then, beneath a gnarled scrub oak, Lehr spots the blue-green-silver bands of the male from Ocala. She turns to Miller, just a few feet behind her, with a big grin. There. We got it, she says.

The jay hops once or twice, then flies several hundred feet to a sand pine, and its mate arrives shortly after. Lehr and Miller track their progress via binoculars. Sarah joins them, alerted by Lehrs excited text. The trio watches the birds until the late-afternoon sun fades and it becomes too dark to see. Only then do they turn back.

This spring the two birds stayed together. Although they built a nest, the eggs disappeared before hatching. Its not ideal, Sarah says, but given the jays generally high rate of nest failure, it wasnt alarming. She remains cautiously optimistic that the birds will thrive in their adopted home, forging new family bonds among the dry, sandy scrub.

This story originally ran in the Winter 2020 issue as The Key to Saving Florida Scrub-Jays May Run in the Family.To receive our print magazine, become a member bymaking a donation today.

See original here:
How Researchers Hope to Save the Florida Scrub-Jay From an Inbreeding Crisis - National Audubon Society

Earlier this week, the stand-up comedy star, 58, appeared on Sky Arts series Portrait Artist of the Year in which the shows host Stephen Mangan and contestants referred to Izzard as she and her.

Izzards fans, who were catching up with the show at the weekend, have posted supportive messages on social media.

The show is the first televised appearance in which Izzard has been referred to with her chosen pronouns.

Speaking about her decision, the British Comedy Guide reports Izzard as saying: " This is the first programme I've asked if I can be 'she' and 'her' this is a little transition period."

She said it feels very positive, adding: I just want to be based in girl mode from now on.

Many used the opportunity to highlight how much they love the comedian and political activist.

Independent Culture NewsletterThe best in film, music TV & radio straight to your inbox every week

Independent Culture NewsletterThe best in film, music TV & radio straight to your inbox every week

I cant tell you what she means to me as a comic, Shappi Khorsandi wrote.

Rocked my comedy world when I was a teen and beyond. Changed everything, made room. I love her and this morning Im very happy for her.

Writer Shon Faye added: Good for Eddie Izzard asking for the pronouns she/her to be used so publicly. As far as I can gather, she isn't a trans woman she's gender fluid but prefers the feminine pronoun. Good for her

Eddie Izzard on Sky Arts show Portrait Artist of the Year

(Sky Arts)

I love Eddie Izzard and hope she gets everything she wants in this life, another Twitter fan wrote.

In 2017, Izzard told The Hollywood Reporter: "I am essentially transgender. I have boy mode and girl mode. I do feel I have boy genetics and girl genetics."

Izzard appeared on the series seven finale of Portrait Artist of the Year, which saw contestants attempt to capture her likeness.

During her appearance, she tells them: I think everyone should and must make life an adventure.

Read the original:
Eddie Izzard praised after fans notice use of she/her pronouns in latest TV appearance - The Independent

Breast cancer can be devastating, and unfortunately, its not uncommon. There are more than 35 million women with a history of breast cancer in the U.S., and its death rates are one of the highest among all cancers, exceeded only by lung cancer.

Considering some women inherit gene mutations that can increase their risk of a diagnosis, genetic testing, which uses DNA to identify harmful mutations of the BRCA 1 and BRCA 2 genes as well as other high-risk gene mutations, can be an invaluable resource for those who meet the testing criteria. That gauge includes those with a personal history of certain types of cancers, those who experience an early age onset of certain types of cancer (this is generally defined as 50 and younger) and those with a combination of certain types of cancers (such as breast, ovarian, prostate, and pancreatic) within their family history.

Armed with information from a genetic test, genetic counselors can then equip people with the information needed to make an informed decision, says Altovise T. Ewing, PhD, LCGC, a licensed, certified genetic counselor and genomic health equity scientist. In some cases, a genetic testing result could help guide the type of treatment that is offered to a patient or it could allow us to better tailor and personalize the types and frequencies of screening modalities that are recommended.

And your results may not just be beneficial to you. The information is also helpful for family members because if we know that there is a gene mutation present in the family, then we know that first-degree relativeschildren, siblings, and parentshave a 50 percent chance of carrying that same gene mutation. says Ewing. In some instances, this could help prevent the occurrence of cancer in family members or offer the opportunity for early detection.

These four womenall in different parts of their journeyreceived genetic testing. Here, they open up about their diagnosis, why they got genetic testing, and how it informed the next steps in their fights against cancer.

Note: When considering genetic testing, its important to talk with your physician about if and how it may benefit you.

Lyndsay Levingston

In the summer of 2019, Lyndsay Levingston Christian felt a lump in her right breast while doing a self-exam in the shower. Fear washed over her. I was scared to even think it was the C word, Christian says. But after numerous screeningsa regular mammogram, a 3D mammogram, an ultrasound, and a biopsy of the grape-sized mass, which hurt so bad, her worst fears were confirmed. Her doctor diagnosed her with Stage IIB breast cancer. I cried and cried, says Christian.

Christian, who is a multimedia talent and host, and an adjunct communications professor who teaches media writing, relocated from New York City back to her hometown of Houston to undergo treatment. This way, her family could be nearby to support and care for her. Her plan: Fifteen rounds of chemotherapy (which she started in August 2019), a lumpectomy to remove any remnants of the mass, and six weeks of radiation. In October, midway through Christians treatment, she received a call from a paternal female cousin who was diagnosed with breast cancer at age 29, making her aware of her familys history with the BRCA 1 gene mutation. I learned that Im the thirteenth women on my dads side to be diagnosed with breast cancer, Christian says.

Because of this new information, her care team advised she have a genetic test. The results revealed I was positive for the BRCA 1 gene mutation, which puts me at a higher risk for breast and ovarian cancers. (According to the Centers for Disease Control and Prevention, 10% of ovarian cancers result from inherited mutations in the BRCA1 and BRCA2 genes.) The news put a wrinkle in Christians surgical treatment plan. In fact, it totally flipped her plan on its head. I went from thinking I was just going to have a bit of tissue removed to my doctor now recommending a bilateral mastectomy to remove both of my breasts. And based on the results of that, no radiation, prayerfully, would be needed.

The BRCA1 gene runs rampant on the paternal side of my family. Knowing this earlier could have changed the trajectory of my health journey.

On December 30, Christian rang the bell, a tradition among cancer patients signaling the end of chemotherapy. It was very symbolic for me. It was me ringing out of this part of my journey and ringing into the new year chemo-free. Since then, Christian has had a bilateral mastectomy, gotten reconstructive breast surgery, and has also had her ovaries and fallopian tubes removed as a preventative measure. And on February 14, 2020, her doctor called to let her know she was in remission.

Looking back, Christian, who wasnt as close with her dads side of the family, wished she had been more knowledgeable of her family health history. The BRCA1 gene runs rampant on the paternal side of my family. Knowing this earlier could have changed the trajectory of my health journey, she says. Yet she is still grateful for what she went through.

I got to reconnect with my mom and other family members during my treatment. I launched SurThriver, a platform that informs, inspires, and empowers women around breast cancer awareness and wellness, she says, adding, And most importantly I am alive.

Tina Pirozzoli

Last year, Deltra Kroemer, a full-time homeschool educator, began doing regular breast self-exams. Her decision came after she saw a friend, whod recently caught her breast cancer early, post on Facebook about the importance of the monthly exam.

During one of Kroemers self-exams, she noticed a good-sized lump. She wasnt worried since she didnt really have a family history of breast cancer, but decided to get it checked out anyway. Kroemer went to her long-time doctor who also felt the lump, and subsequently made her an ultrasound appointment, during which the technician became concerned and called for the doctor, who then scheduled a biopsy. At that point, I was in what is called scanxiety in the cancer community, and I hadnt even been diagnosed yet, she explains.

A few days later, while in the midst of baking with her five daughters ages 14, 13, 10, 7 and 5 Kroemer received a call from her oncologist. She took the call in the bathroom so she could have privacy. Her doctor said that unfortunately the results werent what we were hoping. Its cancer. In shock, Kroemer gathered herself, took a deep breath, and went back to baking with her kids. I didnt really give myself the opportunity to have a breakdown until later that day. And her diagnosis certainly didnt feel real to her until she heard herself telling her husband, her mother, and her sister.

Kroemer would not find out for another month that her diagnosis was De novo Stage IV metastatic, meaning her cancer had already spread beyond her breasts at the time of her initial diagnosis. (The majority of patients with this type of cancer do not survive for more than 5 years after diagnosis.) The cancer was already in my liver when I was screened for staging, she explains. Kroemer immediately began researching, speaking with other cancer patients with her same diagnosis, and getting second opinions. People thought I was crazy because I took a whole month to decide what I wanted to do, but there was no rushing me, explains Kroemer, who said she was arming herself to start her battle, which began in August 2019.

Whats more important to me is not the time that I have left but what I do with that time.

Her doctors had ordered several tests right off the bat, including a genetic test, so Kroemer knew she had the BRCA1 gene mutation. Kroemer asked her team to consider her chances of developing other cancers, like ovarian, which was higher for her, with her mutation, than for the average person. So, as a preventative measure, she had her ovaries removed at the recommendation of her care team.

Genetic testing also put her on alert as it pertains to the health of her daughters, since they, too, can have the gene mutation. While they are too young to be tested, I do talk to my oldest children about the gene mutation Im living with, she says. Not often, as I don't want to create anxietyhaving a mother who is living with cancer can do enough of thatbut I do want them to understand the increased risk, she says.

Despite a Stage IV diagnosis, Kroemer didnt want to just start with hardcore chemo, which is one reason she and her care team decided to do immunotherapy followed by chemotherapy. Initially Kroemer responded well to her treatment course, which required her to be at the cancer center for three and four hours at a time. It shrunk the mass in her breast way down and knocked out the singular metastasis on her liver. By April 2020, though, she could feel the lump in her breast again. A mammogram and a biopsy confirmed her lump had started re-growing, its biology had changed, and the current treatments were no longer working.

While Kroemer, who is currently considering having a lumpectomy, is still undergoing treatment, she still reminds herself to Live your life to the fullest. Whats more important to me is not the time that I have left but what I do with that time. I am thinking about the legacy I want to leave.

Most of the women on Carmela Fucas maternal line have breast cancer, including her mother and grandmother. Through genetic testing, her mother tested positive for a BRCA gene mutation (and later had a double mastectomy), prompting both Fuca and her brother to also have genetic testing. Fuca, who then was about 25, found out she too was positive for the mutation.

My initial reaction was I am going to get a preventive double mastectomy right away, says Fuca, who had just graduated from Teachers College at Columbia University and was about to move to England to start her career. But after thinking about it more, she decided she wasnt ready to have an elective surgery, so she put a pin in it. Its really hard when you are completely healthy to have a surgery like that, she says.

However, as Fuca neared 30, she decided it was time, and scheduled her double mastectomy for February 2020. My mother was 41 when she was diagnosed with breast cancer. With each generation the cancer usually occurs earlier. So I knew as I got older, my risk of cancer was increasing, Fuca says. Two weeks prior to her surgery, Fuca began grieving the impending loss of her breasts.

I was really upset, stressed out and crying all the time, and I realized that it wasnt doing me any good. So, to mentally prepare myself for my surgery, I started to look at myself and appreciate my natural body. One day I was touching my breasts and I thought my tissue isnt going to feel like this anymore, she says. Thats when she felt a golf ball-sized lump. Fucas biopsy results, which she learned the morning before her surgery, revealed she had breast cancer, but they were unable to tell whether it was Stage II or Stage III. (A week post op, her oncologist informer her it was Stage III Triple Negativea very aggressive form of cancer.)

The month between chemo and radiation was probably the hardest part of this whole journey. I was able to stop just coping and actually deal with all of my emotionsit was rough.

Her doctor encouraged her to come in to talk through other possible treatments, like chemotherapy, but Fuca just wasnt able to process what her doctor was telling her. I was instantly full of anger and regret, she says of her decision to wait so many years to have surgery, thinking that if she had acted sooner, she may not have cancer now. Plus, she had scheduled a photo shoot to preserve the memory of her breasts and she didnt want her recent diagnosis to ruin that, so she suppressed her feelings and told her family she didnt want to talk about it. The next day, she went in and had her double mastectomy.

After the surgery, she learned the cancer had spread to her lymph nodes and that she would need additional treatment. Concerned that chemotherapy would cause reproductive issues, Fuca and her partner had to jump from family planning mode to fertility preservation. After completing in vitro fertilization (IVF), Fuca did four months of an aggressive regimen of chemotherapy, had a month break, and then resumed treatment with radiation for another three weeks. The month between chemo and radiation was probably the hardest part of this whole journey, says Fuca. I was able to stop just coping and actually deal with all of my emotionsit was rough. Not to mention COVID-19 made things harder as she was forced to do all of her treatments alone.

These days, Fuca, whose blog Previvor2survivor is a resource for prevention, treatment tips, fertility preservation, and mental wellness, says she is starting to regain her strength and energy. She also notes that this process has taught her to be kinder to herself. Ive gotten good at reframing my perspective, she says, knowing when I can be tough and when I cant and when I can be positive and when its not realistic.

Brenda Dixon

Two days after Brenda Dixon, a retired Georgia Public Health Medical Laboratory technologist, had her annual mammogram, she got a call saying that they had found something on her scans. The mass was at 12 oclock on her right breast and roughly 5 mm in size. She was told that she needed to come back in for further testing so that they could determine whether it was a benign cyst or cancerous. So Dixon went back in to see her doctor and have an ultrasound. Two days later she received her results: It was Stage I breast cancer and it was hormone receptor positive, which is a slow growing, non-aggressive type of cancer. I remember seeing the number on the caller ID and knew it couldnt be good, says Dixon.

I will never forget that call. I was happy that they at least caught the cancer early, so I felt some relief, but the stress and anxiety of the cancer was still building. It was devastating.

Dixons physician explained that genetic testing was an option, and one that she should take, considering there was a history of cancer on her fathers side.

Dixons physician explained that genetic testing was an option, and one that she should take, considering there was a history of cancer thyroid, ovarian, prostate, and breast on her fathers side. Dixon decided to take the test. Initially, the discussion, based on the size of the mass and that it was Stage I, was to have a lumpectomy as opposed to mastectomy, she says. Dixon decided to go with her doctors recommendation, but kept in mind that if the genetic testing results showed that she had any cancerous gene mutations, she would consider a mastectomy. It turns out I didnt have any mutations, so we decided to continue with the original plan of a lumpectomy, which Dixon had on November 5. And even though Dixon did not test positive for any hereditary gene mutations, she says that she has been sharing the information with her family and encouraging genetic testing because of their family history.

During her lumpectomy, the doctor also took out her sentinel lymph node, which is located in the underarm closest to the breast cancer to check and see if the cancer had spread. Thankfully Dixons lab results came back clear, and she will be soon be starting radiation. Her team has not yet determined if she will need chemotherapy.

As Dixon continues on her journey, she notes that her strong support system has been integral in helping her stay on top of all of the information being thrown at her, keeping her spirits up, and for those who have experienced their own cancer diagnoses, serving as a source of inspiration. I look at how they came through it and that means I can too, she says, noting that one of the most important lessons shes learned during this process so far is to pay attention to your body. It talks to you, we just dont always pay attention.

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4 Women Share The Role Genetic Testing Played in Their Breast Cancer Treatment - Oprah Mag

Genetic Testing to Establish Strong Foothold in Current and Future Healthcare System

The notable rise in the demand for hereditary genetic testing over the past few years is one of the major factors that is expected to fuel the growth of the global genetic analysis services market in the upcoming decade. Technological advancements coupled with the drive to discover new and innovative genetic analysis techniques are set to shape the overall growth trajectory of the global genetic analysis services market during the forecast period. Over the past decade, the genome testing sector has witnessed consistent developments due to which, the global genetic analysis services market is anticipated to expand at an impressive rate during the assessment period.

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Hereditary genetic testing has emerged as ideal, and a rapidly evolving technology within the genetic analysis services market. This is likely to continue, owing to advancements in technology and findings of research activities. The increasing demand for improved and cutting-edge prediction and diagnostic tools and services coupled with surge in demand for disease monitoring is anticipated to play a key role in the overall growth of the global genetic analysis services market during the assessment period.

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Healthcare experts and credible researchers around the world are of the opinion that genetic testing is expected to be the future of the healthcare ecosystem. Advancements in the biomedical field coupled with the notable rise in the number of companies that are developing new genetic-testing kits are expected to augment the global genetic analysis services market during the forecast period. Moreover, as interest levels for precision medicine continues to witness sizeable growth around the world, as a result of which the demand for genetic analysis services is projected to grow at an impressive pace.

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Uptake of Next-generation Sequencing and Multi-gene Tests to Drive Market

Advancements in the genetic technology are likely to play an instrumental role in shaping the growth trajectory of the global genetic analysis services market during the forecast period. Furthermore, due to advancements in technology, the scope of genetic testing has widened by a considerable margin due to which, the demand for genetic analysis services is increasing. While genetic analysis services in the past were largely time-consuming and cumbersome, at present, increasing speed and availability of genomic testing are anticipated to present a plethora of opportunities to the players involved in the current market landscape for genetic analysis services.

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In addition, the gradual shift in the point of access to testing is evolving, as more number of consumers can avail genetic analysis services outside the healthcare setting. Advancements in genetic medicine at the back of advancements in technology are likely to bolster the growth of the global genetic analysis services market during the assessment period.

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Research and Development Activities in Full Swing amid COVID-19 Pandemic

Research and development activities are expected to continue in full swing amid the ongoing COVID-19 pandemic. The significant rise in the demand for genetic counseling services during the ongoing COVID-19 crisis is anticipated to generate consistent revenue for the players involved in the genetic analysis services market. Furthermore, researchers and scientists are increasingly focusing on discovering genetic mechanisms that are required to prevent the spread and transmission of the novel coronavirus disease. Genetic research is estimated to unlock various intricate details of the novel coronavirus, thereby opening up new opportunities for mitigation. The ongoing research pertaining to genetics and its correlation with the ongoing pandemic is expected to provide a detailed and microscopic understanding of the overall cellular mechanisms of the virus.

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Genetic Analysis Services Market: Uptake of Next-generation Sequencing and Multi-gene Tests to Drive Market - BioSpace

"GBinsight reflects the biological complexity of humans and, through comprehensive genetic testing and analysis, facilitates precise diagnosis and targeted treatment and prevention," said Dr. Mendel Roth, Senior Scientist at GBinsight.

SAN DIEGO (PRWEB) December 17, 2020

Genetics was a major theme of the National Lipid Associations (NLA) Scientific Sessions, December 2020. Genetic testing for lipid disorders, polygenic risk scores for atherosclerotic cardiovascular disease (ASCVD) and the implications of genetics on clinical care, medical ethics and identifying individuals at high risk and preventive strategies were among the headlining topics. The clinical utility of GBinsight comprehensive genetic testing and analysis was highlighted by several leading physicians and scientists throughout the sessions.

Dr. Christie M. Ballantyne, Professor of Medicine and Genetics at Baylor College of Medicine, started off his presentation reflecting on the current state of clinical cardiovascular genetics, noting how wonderful it is to see where we are now and what the impact of genetics will be on how we practice preventive cardiology. Dr. Ballantyne then reinforced the statements of a previous presenter and another client of GBinsight, Dr. Zahid Ahmad, Assistant Professor of Medicine at the University of Texas, Southwestern, highlighting the clinical benefits of genetic testing for dyslipidemias and ASCVD patients including how definitive diagnoses increase the likelihood of payer coverage and provide more accurate risk stratification, enhance cascade screening that may prompt initiation of therapies at an earlier age, and allow for more precise medication regimens.

Drs. Christie Ballantyne and Zahid Ahmad, both GBinsight collaborators, emphasized that there is a 50% chance of passing on heterozygous familial hypercholesterolemia (FH) to ones children. Genetic testing is the preferred method for screening young family members of adults with FH. The earlier a person is diagnosed, the sooner he or she can begin lifestyle and drug therapies that reduce risk of ASCVD.

The clinical applications of GBinsight were demonstrated by several presentations and posters from Baylor College of Medicine, UT Southwestern, and the University of Pennsylvania. Case studies of patients referred for severe hypertriglyceridemia, pancreatitis, and type 2 diabetes were showcased. GBinsight's Comprehensive Dyslipidemia Panel identified pathogenic genetic variants causal for familial partial lipodystrophy (FPLD) in these patients and allowed physicians to identify precise diagnoses and offer precise therapies. GBinsight analyzes the multitude of pathways that cause severe hypertriglyceridemia beyond LPL deficiency.

GBinsight recognizes the biological complexity and heterogeneity of humans and, through comprehensive genetic analysis, facilitates precise diagnosis. GBinsight comprehensively analyzes the genetics of the multitude of pathways that can cause dyslipidemia and ASCVD in a single assay, said Dr. Mendel Roth, Senior Scientist at GBinsight.

GBinsight differentiates itself from other genetic testing services in several important ways: 1) Since ASCVD risk is ultimately determined by additive risk factors, GBinsight analyzes broad risk categories within a single comprehensive assay. This includes hypercholesterolemia, hypertriglyceridemia, reverse cholesterol transport defects, high Lp(a), homocysteinemia, familial obesity and familial diabetes. The analysis includes copy number variations that are a common cause of dyslipidemias. 2) Analyzes both rare, large-effect sized, monogenic variants largely in coding and splicing regions of genes as well as common, small-to-moderate-effect sized variants that contribute to polygenic risk in a single assay. 3) This assay includes full coverage of the APOE gene that is an underappreciated genetic cause of dyslipidemias and ASCVD. The APOE gene presents a technical challenge in getting quality sequencing results. 4) Analyzes both single nucleotide polymorphisms (SNP) known to increase and decrease Lp(a) levels as well as directly quantifies the variable Kringle-IV region. 5) Analyzes pharmacogenomics including the multiple genetic causes of statin intolerance.

GBinsight is the only next-generation sequencing (NGS) test that can directly quantify the variable region within the LPA gene which is the single greatest cause of high Lp(a), said Dr. Roth. GBinsight employs a machine-learning algorithm that assesses the comprehensive genetic basis of high Lp(a).

GBinsights scientific team has collaborated with key clinical opinion leaders to explore and validate the clinical utility of comprehensive genetic analysis for dyslipidemia and ASCVD. For example, using monogenic and polygenic analysis, up to 80% of patients referred to GBinsight for FH and other dyslipidemias was correctly identified. Of those with high Lp(a), validation results showed an overall accuracy of 84% with a sensitivity of 82% and specificity of 87%. Including the direct quantitation of the variable polymorphism increased the accuracy call by 23 percentage points. These results were formulated in partnerships with Drs. Christie M. Ballantyne, Michael Davidson at University of Chicago, Patrick Moriarty at University of Kansas, and Sotirios Tsimikas of University of California, San Diego and presented at the NLA Scientific Sessions.

GBinsight NGS services are performed at a CLIA-certified and medically licensed genetic testing laboratory using Illuminas HiSeq platform.

GBinsights Test Catalog includes the following:

Because genetic risk for most common metabolic diseases can be mitigated by dietary and lifestyle factors, in addition to GBinsight comprehensive genetic analysis, GB HealthWatch also developed the HealthWatch 360 mobile app for delivering dietary and lifestyle interventions to the general population. The app works in conjunction with the HealthWatch 360 Research Portal, which allows researchers to manage and analyze the diet, exercise and health data collected with the mobile app. Integration of GBinsight genetics panels with the research portal advantageously enables researchers to study gene-gene and gene-lifestyle interactions in observational and interventional cohort trials. With this system, prevention and medical intervention strategies, and especially dietary interventions, for complex diseases can be experimented with, validated and refined. Given the epidemic of diet-induced chronic diseases in the United States and worldwide, it is imperative that we focus our efforts on precision nutrition as a key preventive strategy for improving the health of our future.

GBinsight was developed by GB HealthWatch in partnership with the Otogenetics Corporation, a CLIA-certified and licensed medically licensed genetic testing company.

About GB HealthWatchGB HealthWatch is a nutritional genomics company. We develop state-of-the-art technologies to facilitate research on the molecular mechanisms, clinical efficacy and cost-effectiveness of translating genetic insights into personalized prevention and treatment strategies for complex diseases. GB HealthWatch offers the following tools:

About Otogenetics CorporationOtogenetics Corporation is a CLIA-certified and licensed medical genetic testing company specializing in next generation sequencing services. Otogenetics offers high quality services for genome, exome, and RNA-seq for government and academic institutions, biotechnology and pharmaceutical companies, as well as medical doctors and clinics. Additional services and products provided by Otogenetics Corporation can be found at: http://www.otogenetics.com

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Clinical Utility of GBinsight Comprehensive Genetic Testing Showcased at the 2020 National Lipid Association's Scientific Sessions - PR Web

Context

The promise of precision medicine hinges on our ability to use highly personal data about individuals and populations to prevent, screen, diagnose or treat patients with disease.

Healthcare providers are increasingly using genetic information as a routine part of prenatal, pediatric and cardiovascular care. The use of genetic information is even more common in the areas of rare disease, oncology and pharmacogenomics (looking at how genes affect a person's response to drugs).

Beyond these more specialized disciplines, population screening for actionable hereditary health risks is of interest to many healthcare organizations. The explosion in popularity of direct to consumer genetic testing is allowing many members of the public to learn more about their predisposition to certain health conditions like cancer and heart disease. Patients and the general public want to consider this information in health and healthcare decisions, and researchers, along with innovators in the genetic testing and support services industry, are increasingly advocating for its inclusion in clinical practice.

Many experts and innovators argue that genetic testing should become a routine part of clinical care as a means to identify and treat diseases. It would enable a more proactive approach to identifying risks and establishing management strategies for a population-wide precision medicine experience.

Most healthcare organizations and physicians are not incorporating these tests into routine practice. After an extensive scoping exercise, the Forums precision medicine team found that the most significant barrier to moving genetic testing into clinical practice for broader populations is the lack of coverage for genomic testing i.e., that a physician or healthcare institution will not be reimbursed for the process of ordering and returning the results of a test.

While this is an over simplification of the complexity of the situation, there is general discomfort that the science on which many of todays genetic and genomic tests are based is still evolving, and thus many physicians and payers are unsure of the utility of genetic testing to drive clinical care decisions in the large, diverse populations they serve.

We plan to explore, design and test incentives to accelerate building the evidence base for clinical efficacy and utility as a way to increase coverage of genetic testing and screening. Increasing the evidence base serves two purposes: to improve physician comfort with the clinical utility of such tests and to demonstrate to payers that tests do elicit action for the populations that they cover. Increasing the incentives for payers to cover genetic tests would allow clinicians and patients to significantly contribute to building the evidence base for the utility of genetic tests in real world settings. This in turn enables population-wide genetic testing that, over time, will drive our ability to personalize the way we treat, mitigate or manage health risks to patient populations. This project will involve several steps:

- Validate key barriers to genetic screening and testing, considering different models of healthcare delivery, cultural and ethical expectations, and stages of healthcare-system development

- Determine which genetic testing use case(s) can be the focus of stakeholder dialogues and activities

- Create original, new analysis of the economic value of genetic testing across four use cases: cancer testing, rare disease testing, population health testing, and carrier testing

- Identify, design and pressure test incentives to address the gaps leading to low or inconsistent levels of coverage

Impact

The project will address a foundational element of precision medicine: our ability to effectively deploy genetic screening and testing into routine clinical care. To do so, healthcare providers must be confident that genetic screening tests provide them with value and with actionable results for the populations which they serve. Payers need to know that tests are clinically actionable, and lead to improved outcomes for patients. This project will focus on the value of genetic testing and incentives to generate sufficient proof of the utility genetic testing for healthcare providers and the payer community globally.

Excerpt from:
Moving Genomics to the Clinic - World Economic Forum

For years, Summer Heidedidn't eat spicy food because the slightest indigestion would trigger fears that she had stomach cancer.

She would lay awake at night, terrified that she would die and leave her children without a mother.

Heide, a32-year-old farmerfrom southeastern Saskatchewan, isn't a hypochondriac. A rare and deadly stomach cancer runs in her family, andsince learning she inherited a gene mutation that could cause cancer,she's beenforced to make agonizing decisions andtakedrastic steps to save her own life.

"It was just too much fear over the unknown," Heide said. "There was always the little bit of 'When is the ticking time bomb going to go off? When might I get the cancer?'"

Heide was only a toddler when her aunt, RoseMarie Lawrence, passed away from stomach cancer in 1991. She was just 29 years old.

That kind ofstomach cancer, known as diffuse gastric cancer, isparticularly sneaky. Cancer cells grow in loose clusters not a tumour that can easily move and multiply in the stomach lining. Initial symptoms, such as heartburn, seem innocuous.By the time the cancer is detected, it's usually too late.

Heide's uncle, Luke Lawrence, RoseMarie's husband, remembers asking the doctor whether their two children were at risk of getting the cancer.

"I was very concerned for my children because I knew nothing about cancer," he said. "[The doctor] says, 'Cancer is not contagious.' At that time, they didn't know anything about hereditary forms of cancer."

Sixteen years later, his daughter Erin, Heide's cousin, was diagnosed with the same cancer that had killed her mother.

She was 20 years oldand passed awaywithin seven months.

Before she passed away, doctors suggested Erin getgenetic testing. She took a blood test, one that didn't exist before her mother died, and discovered she had a rare mutation in the CDH1 gene that causes Hereditary Diffuse Gastric Cancer Syndrome. It's a disorder that can pass down through families and puts people at a high risk for developing stomach cancer at a young age.

A child has a 50 per cent chance of inheriting the gene mutation from a parent who is a carrier.

"We didn't know none of this until it was far too late because Erin had already been diagnosed with Stage 4 of this form of cancer,"Luke Lawrence said."So [the testing] was to create an awareness for the family, more so than what we could do for Erin. That's why we did it."

The family calls it "Erin's Gift."

In 2007, Heide and seven other family members went for predictive genetic testing to see if they also carried the gene mutation. Five tested positive, including her grandmother, her fatherand herself.

Heide was 19 when she got the results.

"It was devastating, obviously, but I think I was so young and naive that I didn't actually think about what that meant," shesaid.

What it meantwas Heide'schances of developing the deadly stomach cancer by age 80 were as high as83 per cent. Womenwho have themutationalso have an estimated 60 per centrisk of developing lobular breast cancer in their lifetime.

WATCH | Rare and deadly stomach cancer runs in Saskatchewan woman's family:

Demand for cancer-related genetic testing has increased exponentially over the past two decades, according to the Canadian Association of Genetic Counsellors. Referrals tosome genetic testing clinics in the country have doubledor even tripledin recent years.

"Patients are more aware of it, physicians are more aware of itand the testing has become better. The technology has improved," said Ingrid Ambus,a genetic counsellor at North York General Hospital in Toronto, adding that testing can now diagnose hereditary cancer syndromes beyond the more common ovarian and breast cancers.

Less than 10 per cent of cancers have hereditary causes, but researchers have identified more than 80 genes in which mutations can be passed down through families and potentially cause cancer.

Ambus said patients often find it"empowering" to know that a cancer runs in their family so they can seek counselling, screen for the cancer, make lifestyle changesor have preventative surgery.

A genetic counsellor advised Heide that the only way for her to prevent aggressive gastric cancer would be to remove her entire stomach, a procedure called a prophylactic total gastrectomy.

She met with a surgeon in 2007but was toldthere wasn't enough clinical information available at that time to guarantee that she could have children after a total gastrectomy.

She decided to wait.

Soon, she would have to make another difficult choice.

When Heide and her husband were ready to have children, they had the option to do in-vitro fertilization (IVF) with pre-implantation genetic diagnosis on her embryos. That would have allowed them to only implant embryos that didn't have the mutation.

"I didn't want to do that," Heide said. "I do feel like some feel, like, it's a little bit selfish, because I could spare my kids from having the gene. But I wouldn't get the kids that I have if I were to choose that, and I would never choose anybody different."

After Heide and her husband had their first two children, Mikka and Harlow, her anxiety began to grow. She was tortured by the fact that her cousin Erin had passed away just seven months after diagnosis. Heide wondered whether cancer was already forming inside her.

"No one would love [my daughters]like me. So every, like, Christmas or birthday, or any type of holiday, I would always go above take lots of pictures, make it perfect in case it was their last one with me," she said.

Heide still resisted the idea of getting an invasive surgery to remove her stomach.She was worried about long-lasting side effects, including diarrhea, vomitingand fatigue.

She'd also had one of her veins cut during a routine endoscopy a diagnostic test to look for cancer and began to vomit blood and lose consciousness.

"I was mentally making peace with myself and God that maybe my time had come. That shakes a person deeply," she said.

From that point on, she had adeepfear of medical procedures. She would schedulea gastrectomy, then cancel.

Then, in 2014, her younger sister, Ali Kowaluk, decided to get genetic testing.

Kowaluk admits she had procrastinated. Then shegot married and began to contemplate having children. She knew it was time to visit a genetic counsellor at the Royal University Hospital in Saskatoon.

She tested positive for the gene mutation and knew immediately that she would have the surgery.

Kowaluk had her entire stomach removed at the age of 23. Afterward, the surgeon told her that tests on tissues removed from her revealed Stage1cancer.

"So that was hard to hear, still hard to talk about. I don't talk about that part very much," Kowaluk said, choking up.

Undetected, the aggressive cancer would have certainly gone on to kill her. The surgery saved her life.

"I could not be here today," Kowaluk said.

Now a mother of one-year-old Winston, Kowaluk is shaken by how closeshe came to passing awaylike her cousin Erin.

Kowaluk's near-death experience was awake-up call for her big sister, Heide.

One night, after both of her daughters fell asleep during their bedtime story, one curled up under each arm, Heidelay there praying to God and silently sobbing. The next morning, she woke up with mental clarity. It was time to have the surgery.

"Knowing you carry a gene with such devastating potential is a heavy weight to carry. It was heavier than I could mentally handle any longer," she said.

Heide got her stomach removed at Calgary Foothills Hospital in 2015.

The recovery took nearly a yearand was excruciating, she said. She could barely get off the couch some days.

Two years after the surgery, despite not knowing if it was possible, she got pregnant and had a third child,a boy named Huxley. It seemed to reset her body, she said.

Today, Heide stands in her kitchen, sunshine pouring through the window, snacking on tiny bites of chicken and cottage cheese.

The 5-foot-5,105-poundwomaneats every couple of hours and only small amounts, because she doesn't have a stomach to digest and store food.She has to chew everything until it's mush, and eating and drinking fluid at the same time pushesfood into her small intestine too quickly and makes her sick.

Heide has reached a level of peace and confidence with her health that she hasn't had in years.

"Of course, I wish we didn't have this gene, but it's also a gift that we know about it, because I might not be sitting here today if I didn't know about it," she said.

Unfortunately, her worries aren't over.

"The worry about myself has now been put onto my kids, because I just worry and hope that none of them have the gene," Heide said,

Each of her three children, and Kowaluk's son, has a 50 per cent chance of inheriting the gene mutation. They can get tested when they're 18.

The two women hope that, by then, medical advancements will provide better options for testing, treatingand preventing the disease.

"I have high hopes for him," Kowaluk saidof her son, Winston.

Heide shares the same optimism.

"It's hard, but it is what it is. We're lucky that we get a chance at life."

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Sask. woman who got stomach removed to thwart cancer describes life with 'ticking time bomb' - CBC.ca

ATLANTA, Dec. 16, 2020 /PRNewswire/ -- Elite Testing and Wellness at the Chastain Surgery Center is excited to announce the launch of innovative genetic testing and IV drip therapy services in the Atlanta market. The DNA tests are the future of health optimization and include a DNA fitness test, micronutrient test, pharmacogenomics test, and a food sensitivity test. Alongside the launch of genomic testing products, Elite is launching a full suite of IV therapy products. The IV Drips available at Elite will include a Beauty Drip, Immunity Drip, Hangover Drip, All-In-One Drip, Meyer's Cocktail Drip, and a Pre & Post Surgery Drip. Elite will also offer Custom IV Drips based on your micronutrient analysis to address vitamin and mineral deficiencies.

"We are excited about the launch of all the new products and services at Elite," says Managing Director of Elite Testing and Wellness, Courtney Rodriguez. "We started this business earlier in 2020 to help address the need for reliable, fast COVID-19 testing. As more providers have entered the area, we are transitioning the company to focus on the next generation of health optimization. We believe these new products and services are going to allow the people of Atlanta to take control of their health with some of the most innovative technology and approaches used around the world."

Elite Testing and Wellness is a new DNA testing center & IV Drip Therapy lounge in Atlanta. The DNA testing products and IV Therapy services work together to create a holistic approach to the future of health. With DNA testing, Elite helps patients gain access to important genetic data analysis on the impact of fitness, diet, pharmaceuticals, and more on their health. Elite works with patients to develop a fitness plan, diet plan, and IV therapy plan for optimal health & performance based on the patient's genetics.

Dr. Alan N. Larsen, Medical Director of Elite Testing and Wellness, had this to say, "We are proud to add Elite Testing & Wellness to the Alan N. Larsen Family of Brands alongside Buckhead Plastic Surgery, LUX Med Spa, and Chastain Surgery Center. The launch of these innovative products & services gives Atlanta a luxurious location for the future of health optimization."

To learn more about DNA Testing & IV Therapy, contact Elite Testing and Wellness at 404.689.6860

SOURCE Elite Testing and Wellness

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Elite Testing and Wellness Launches Innovative DNA Testing and IV Therapy in the Atlanta Market - PRNewswire

OKLAHOMA CITY (KFOR) Behind one Oklahoma 8-year-olds infectious smile is a fighter.

Im smaller than most people, said Madison Cain.

Madison was born smaller than most babies, too, at 5 lbs. 9 oz.

She was teeny tiny, she calls herself a little itty-bitty baby,said Madisons mom, Melissa Cain.

For Madisons first year, Melissa says there werent many issues.

Around 15 months or so she quit growing in length, she quit gaining weight, and so that began our journey to figure out what was going on, said Melissa.

The Tulsa residents had no idea what this journey would entail.

By age two, Madison was diagnosed with hip dysplasia and cataracts.

She got those initial diagnoses treated, but still wasnt growing.

Then we really started thinking this isnt all adding up she doesnt grow, she has the hip thing, she has cataracts, there has to be something, said Melissa.

The family started genetic testing, while Madisons symptoms persisted.

Still low energy not growing well, said Melissa. She couldnt keep up with her peers, you know running and things werent the same we were doing all kinds of things and just not a lot of answers.

The Cains spent hours researching, and even more time at the doctors office, but it was years of dead ends.

No energy, sleeping 16 hours a day barely making it through school, not gaining any weight, said Melissa.She was 5 and weighed about 25-28 pounds, but she is the most easy going, not stressed out, tough child.

Madisons strength paid off.

A break-through finally coming in 2019.

The genetics doctor called and said here this is what it is, theres one published paper, with a patient with this. Its not her, so well just put it in a database and see if anything ever hits, said Melissa.

But as a nurse practitioner herself, Melissa sat down and read the article.

She realized it was written by doctors, just down the turnpike, at the Oklahoma Medical Research Foundation.

This is a new disease and were the first ones that discovered it, said Dr. Lijun Xia,Member and Chair, Cardiovascular Biology Research Program at OMRF.

Madison has rare gene mutation to the MBTPS1 gene.

Madison, inherited a wrong copy from her mother and the father so, therefore even though she has two copies of the gene both are wrong both have mutation, said Dr. Xia.

The mutation, resulted in a condition called Spondyloepiphyseal Dysplasia, Kondo-Fu type, or SEDKF for short.

The condition named after two of Oklahomas scientists.

The disorder hinders Madisons bone growth and development.

This is a very rare genetic disease,said Dr. Xia.

There are only two known cases in the state, Madisons and another girl named Sydney in Yukon, who was the first diagnosed.

Since publishing the article, OMRF now knows of about eight cases worldwide.

We have one contact us from Germany, one from Brazil, and theres also one from San Francisco, said Dr. Xia.

Doctors think that could be because many patients are misdiagnosed.

The mutation can also affect every patient differently.

However, theres hope on the horizon.

Researchers have come up with a possible treatment but need 50 patients for a clinical trial.

Now theyre searching for cases across the country.

Of course, I wish that we had the answer plus enough patients to do a trial and see if the treatment would work and Im hopeful that we can get there before her bones stop growing, said Cain.

The protein used for treatment has already been approved by the FDA to treat a different disease.

Researchers have tested the treatment on mice successfully.

For Madison, this treatment could mean everything.

It could change our life and change her life for the rest of her life, said Cain. We never thought weve get a Madison, but theres no one like Madison.

For more information visit the OMRF website.

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Oklahoma researchers looking for additional patients across the US with rare genetic mutation - KFOR Oklahoma City

Genetics is a booming field for the next decade. One of the most obvious applications is genetic testing. In this field, I value the network approach used by Invitae (NVTA). The company intends to create a platform that brings together patients, clinicians, and payers, in a continuous service that can be accessed and updated anytime during the patient's life.

I've been shifting my attention to the genomic revolution. The reason is simple, and I've explained it in depth elsewhere. In a nutshell, the valuations are sky-high for most stay-at-home stocks, but the genomic space has been underfollowed and undercovered due to its complexity. Here, I intend to break down the main components of a genomic play and convey it in a digestible form. One previous example of that is my CRISPR analysis.

(Photo Credit: Eelke)

Basically, I see the structure of the industry as an ecosystem composed of three main parts. The first is testing tools like the ones provided by Illumina (ILMN). I've written about this company and how it has allowed a dramatic drop in sequencing costs. However, I've been reviewing my assessment, and I now think the Pacific Biosciences (PACB) might be well-positioned to be successful in the space. Be as it may, that will be a discussion for another time. The second is the test and diagnostic services. Companies that buy the testing tools and develop services around them. The third is companies that develop therapies around gene-related diseases. That's a simple formulation, but one that I believe provides a good enough framing.

The costs are falling for the companies in the industry. The cost of sequencing a human genome has been falling faster than Moore's law.

(Source: genome.gov)

That's huge because the costs were prohibitive for products and services based on genetic information to become massified. Now that companies are targeting the $100 per genome mark, we might watch the proliferation of services and products in that space. Additionally, these cost decreases should allow more companies to pursue genetic-related services and products outside of healthcare. Sectors like agriculture, aquaculture, health insurance, materials, chemicals, energy, and electronics are likely to take advantage of lower sequencing costs to create new avenues for R&D.

For Invitae, there will be two order effects. The first is the growing demand for tests and services in healthcare. The applications for genetic data are growing at a fast pace, and companies providing the data will have huge demand. The second is the growing demand coming from other unexpected sectors.

In this field, companies are offering flexible laboratory-developed tests, and direct-to-consumer solutions, like the ones provided by Sema4, Myriad Genetics, 23andMe, or Genomic Health. Invitae is trying to establish an integrated network to be accessed by physicians during an individual's life. Like all the networks, its value increases with each new user. In this case, the network is complex because it is an ecosystem composed of patients, doctors, and insurance companies (payers). That makes it likely to be a case where the winner takes most and helps explain why the company is looking to scale fast.

However, developing and maintaining a network is not easy or cheap. For instance, the cost of accumulating data is high. Unlike social media that harvests inexpensive user data, Invitae harvests expensive user data. Yes, they have access to a huge pool of datasets, but they also have to sequence it, and that's expensive. However, new technology in the industry can change that. The emergence of Pacific Biosciences' HiFi sequencing technology might open a new avenue to a sustainable cost-reduction period in the industry. Invitae has already started to explore this route.

Additionally, Invitae needs to dilute the costs of laboratory infrastructure over a larger number of tests. To do so, the company will need to have a big gene library, and they'll need to perform advanced research on the gene data. That will widen the test menu, which will help to attract more customers, and, in turn, drive costs lower, reinforcing the cycle.

The interpretation of results is another aspect to consider to reduce costs. You might get your DNA sequenced, but you would still need to understand which gene does what. These are very complex processes that require a lot of work. Currently, AI offers immense help in that process since it allows for the processing of enormous loads of data. That, I believe, is the secret sauce. Having more samples means having more data. With a powerful AI processing capacity, the company can expand its knowledge base and increase its testing menu. To provide some color, Invitae started with 200 genes in its first commercial offering, and it grew to more than 200,000 genes.

Next comes Invitaes most used corporate strategy: focused acquisitions. The company has been acquiring companies that have the tech to build the testing network or buying companies that will allow them to drive down the costs. One example is rare disease diagnostics. Diagnosing rare diseases is like searching for a needle in a haystack. However, AI can lower the time and cost to do it. Diploid's acquisition earlier in 2020 is a step in that direction. The company has an AI software called Moon that combines AI algorithms, a gene-disorder model, and a continuously growing genetic database to provide a diagnosis in minutes.

Other acquisitions include Genelex and YouScript, both providing pharmacogenetic information at point-of-care. That will help healthcare organizations to evaluate how an individual will react to a certain drug prescription based on their genetic information. More impactfully, by acquiring Archer DX, Invitae integrates germline testing, tumor profiling, and liquid biopsy capabilities in its platform.

Summing up, the company is developing a network approach instead of a direct-to-consumer used by many competitors. The company has focused on driving costs lower by using the most cost-effective technology available. The adoption of PacBio's HiFi technology seems like a step in that direction.

Driving the costs lower has allowed the company to be aggressive in pricing, and it has helped in growing the test volume. Finally, the various acquisitions have brought software, AI skills, and new testing capabilities to the platform, which will help to widen the offerings.

(Source: Invitae)

The company's revenues have been growing at an impressive pace. Revenues expanded by 47% in 2019, and it reflects the aggressive approach to generate volume growth. The company is on an evident scaling-up period, and the gross margins are also accompanying the trend. The gross margin has improved from being negative in 2015 to a stable 45% in 2018 and 2019. However, scaling-up also means higher R&D and SG&A expenses.

(Source: Authors computations based on SEC filings)

I see the scaling-up as an opportunity. Firstly, it is likely that the company will miss on earnings, and that might throw the stock down temporarily. Secondly, the company is scaling because it knows that there is a market for its product.

The improvement in the bottom line is dependent on two main fronts. First, reaching out to new markets, which will result in revenue growth and the dilution of SG&A expenses. Second, the improvement in the gross margin, i.e., becoming more efficient.

On the COGS front, the company's double approach, i.e., exploring alternatives to Illumina's technology and stimulating economies of scale, has allowed a decrease in the cost per sample from $264 in 2018 to $245 in 2019. The development (or acquisition) of AI capabilities will also help reduce labor costs, and medical interpretation of the results will bring further declines.

In my opinion, the biggest quest to improve the bottom line is on the payers' side of the network. Physicians will hardly prescribe an expensive test to a patient if they can't get a reimbursement. Reimbursement is dependent on several factors, and it is up to the payer to determine if a test is appropriate. Additionally, payers also define who they contract in case they need a test. Therefore, getting coverage and a contract from payers becomes essential to grow the business. Invitae currently has contracts with payers amassing a total of 295 million lives. That's reflected in the 60% growth in billable tests in 2019.

Some studies suggest that the global market for pediatric rare disease diagnostics will be worth more than $27 billion in 2024. That's a very tangible market to target, and one where clinicians, third-party payers, and parents are very much aligned in the awareness that there must be a better way than years of trial-and-error before clinicians reach a final diagnostic.

That might very well be the breakthrough for Invitae, but there are lots of other avenues to take, other being non-invasive natal screening. Nevertheless, a tremendous increase in revenue will be necessary to make the company profitable. Two main factors might help the company in its pursuit. First, the next generation of sequencing technology, like PacBio's HiFi, will likely help to sustain the drop in costs that the industry has been experiencing. Second, reduced costs will be a driver for new demand for genetic tests. More tests mean more data for Invitae to apply its AI and add more genetic content to its test menu. That will be another driver for demand.

I like to end the pieces on genetic companies with a word of caution. These are very risky enterprises, do not doubt it. In this case, I could write a piece only focused on the risks.

First, there might be one or more competitors that might have better technology or market offering. Genomics is a very dynamic field, and with costs dropping, the barriers to new entrants also drop. That's the recipe for innovation and competition. One thing that worries me is a new entrant completely disrupting the network model followed by Invitae. Nevertheless, the threat might also come from an established big pharmaceutical player, heavy on resources.

Second, the ability to gather support from third-party payers is crucial to keep the company growing and expanding its edge. Also, the ability to convince physicians to prescribe the tests and the competence to navigate the payers' requirements to get the reimbursements.

Given the serial-acquirer profile that Invitae has developed, integrating all the acquisitions seamlessly becomes essential. If they fail to accomplish it, that will result in costly write-offs and investor scares, which might push the company out of the capital markets.

Finally, currently, the balance sheet is solid. However, the company might need cash to finance an acquisition (or to cover the cash burn), meaning that there is a good chance of a significant issuance of stock in the coming years.

That said, there are more than enough unmet needs in the marketplace for the company to build a $2 to $3 billion sustainable revenue stream during the next couple of years. If the current decrease in costs holds, the company will likely turn profitable. If that scenario materializes, the current market capitalization could easily double.

Disclosure: I am/we are long PACB, NVTA, CRSP. I wrote this article myself, and it expresses my own opinions. I am not receiving compensation for it (other than from Seeking Alpha). I have no business relationship with any company whose stock is mentioned in this article.

Additional disclosure: This text expresses the views of the author as of the date indicated and such views are subject to change without notice. The author has no duty or obligation to update the information contained herein. Further, wherever there is the potential for profit there is also the possibility of loss. Additionally, the present article is being made available for educational purposes only and should not be used for any other purpose. The information contained herein does not constitute and should not be construed as an offering of advisory services or an offer to sell or solicitation to buy any securities or related financial instruments in any jurisdiction. Some information and data contained herein concerning economic trends and performance is based on or derived from information provided by independent third-party sources. The author trusts that the sources from which such information has been obtained are reliable; however, it cannot guarantee the accuracy of such information and has not independently verified the accuracy or completeness of such information or the assumptions on which such information is based.

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Invitae: Network Strategy And Industry Tailwinds Should Offer Path To Profitability - Seeking Alpha

After seeing inadequate mental healthcare profoundly affect family and friends, Maurice Chiang, MS 20 was determined to find a better way. Guided by the Stanford Byers Center for Biodesigns need-based approach to innovation, Chiang worked with a team of fellow Stanford graduates to build a new model for mental healthcare delivery.

The Prairie Health co-founders: Top L: Benson Kung, Top R: Maurice Chiang, Bottom L: Aaron Kappe, Bottom R: Jin Woo Yu. (Image credit: Courtesy Prairie Health)

Chiang, along with Benson Kung, BS 20, Aaron Kappe, MBA 20, and Jin Woo Yu, BS 20, developed a system that uses data to inform treatment decisions, telemedicine to improve patient access and care continuity, and a direct-to-consumer approach to bypass traditionally poor mental health insurance coverage and misaligned care incentives. Their goal: drive better outcomes for patients at a significantly reduced cost.

Chiang, who earned his undergraduate degree in bioengineering before completing a masters in computer science, used the biodesign process to understand problems in mental healthcare before conceptualizing a solution. He first learned this systematic approach to health technology innovation as a student in Bioengineering Senior Capstone Design.

The Capstone course prepares engineering students for the real world by asking them to identify an important problem, understand it from the perspectives of all involved and then develop a novel, technology-based solution, said course co-leader Ross Venook, PhD, a bioengineering lecturer and the assistant director of engineering at Stanford Biodesign.

In the course, Maurice and his team had worked on a project to reduce opioid dependency, so when he brought up mental health in a subsequent meeting, I was surprised. My surprise turned to curiosity and then excitement as Maurice described the unmet clinical need he was pursuing and the way he was applying the biodesign tools we used in class to this project, said Venook, who became an informal advisor to the team.

Chiang started by interviewing hundreds of patients, providers, payers and others. I wanted to thoroughly understand the ecosystem so I could find a way to improve care for patients while also delivering value to the other stakeholders, Chiang said.

Based on his research, one of the first problems Chiang set out to address was the way antidepressants are prescribed to mental health patients. There is significant variability in the way people respond to these medications, he said. Psychiatrists approach this largely by trial and error, meaning they try something, wait to see how it works and then try something else. As a result, patients can spend months struggling with ineffective medications and/or adverse side effects.

This is the same approach that has been used since the 1980s, Chiang said. I wanted to use data to advance patient care and prescribing practices. He explained that while its not yet possible to use a patients genetic information to create a personalized medical regimen, there are ways to use genetic testing to better understand how a patient will metabolize drugs.

The key to this is the six enzymes (proteins) that are largely responsible for breaking down drugs in the body. These enzymes arent identical in everyone; in fact, most people have variations of one or more of them that affect the way their bodies process medications. Because differences in certain genes correspond to the differences in the enzymes, genetic testing can identify the variants and help predict individual medication response.

For example, if a person has a variation that causes them to metabolize an antidepressant more slowly than average, the antidepressant will stay in their system longer, increasing the likelihood that it will cause side effects like nausea and fatigue, said Chiang. If the physician is aware of this, they can modify that patients prescription proactively.

Working with teammate Kung, Chiang also sought to leverage data to help providers understand how patients similar to theirs had responded in the past. The National Health Service in the UK has one of the worlds largest psychiatric clinical datasets, said Chiang. We use longitudinal data drawn from years of patient health records and other variables to paint a picture of patient outcomes on certain medications over time. This information, along with the genetic tests, helps drive more informed treatment decisions that give patients a better chance of receiving a medication that works for them the first time, resulting in fewer adverse side effects, lower costs and faster recoveries.

Another problem Chiang set out to address was access. It typically takes three to four weeks to get a first appointment to see a provider, and follow-up visits can be six to 12 weeks apart, he said. To shorten that timeline, the team began experimenting with telemedicine. With virtual visits, we can connect a patient to a provider within a day, said Chiang.

To improve care continuity, a care manager is assigned to check in with the patient regularly. Theres a lot to be gained from a non-therapist support person, said Ronald Albucher, MD, the former director of Counseling and Psychological Services at Stanfords Vaden Student Health Center, who serves as an advisor to the team. Improved support is associated with a reduction in symptoms, especially when someone is going through a crisis or a new onset mental health problem.

The team also tackled the high cost of treatment. Insurance coverage for mental healthcare is frequently inadequate, said Albucher. Patients are required to choose from a small number of in-network providers, only to find out that most arent taking new patients or are retired. It makes it hard to find a provider who is a good match. And then there is often a cap on the number of visits.

To eliminate these problems, the team decided to use a direct-to-consumer business model. This approach, in combination with virtual visits, strips out billers, payers, offices and most administrative costs, and makes it possible to deliver comprehensive mental healthcare that includes genetic testing and medications for a flat fee of $99 per month.

The business model is largely the brainchild of Kappe, who got interested in entrepreneurship while a student in the graduate-level Biodesign Innovation course. Kappe said it was the most impactful course he took at the Stanford Graduate School of Business. The course demystified the process of starting a company by breaking it down into components from understanding the need youre trying to solve, to how different stakeholders interact, how to think through regulatory paths and options and how to develop a go-to-market plan that makes the business sustainable, Kappe said.

The company they formed is called Prairie Health. Kappe leads its business strategy and growth. Chiang is the CEO, Kung heads research and development, and Yu heads product and engineering. All four are co-founders, and share interwoven connections to Stanford Engineering, Stanford Biodesign, the Stanford Ventures Technology Program and ASES, a global student entrepreneurship program.

Its a very interesting model that hasnt been tried before, said Albucher. They are doing an impressive job of trying to address important deficiencies in mental healthcare.

Chiang said he and his team members are trying to walk the walk when it comes to providing value-based care. A patient with anxiety and depression incurs an average of $5,000 to $8,000 more in medical claims per year, Chiang said. If were able to improve patient outcomes three times faster, thats better for the patient and a significant cost savings.

Link:
Reimagining mental healthcare from the ground up - Stanford Today - Stanford University News

Diagnostics are a critical part of precision medicine. They can be used to screen patients for breakthrough therapies, detect certain conditions, especially cancer, earlier. But this area of medical innovation is balanced between promising new developments in molecular diagnostics, genetic testing and liquid biopsies, the delivery of these tests, and the all important question of who pays for it.

More than 80% of representatives of health systems have established genomic data management strategies or plan to do so within the next couple of years, according to a report by University of Pittsburgh Medical Centers Center for Connected Medicine and HIMSS Media, which surveyed 101 health system and hospital representatives in the U.S. The report indicated that health systems anticipate growth and increased use of genomics. Evidence of clinical and cost effectiveness and reimbursement are crucial for wider adoption of precision medicine programs.

Although the development and distribution of tests to diagnose COVID-19 has dominated much of the news this year, there has also been much activity in the way of development of molecular diagnostic tests and liquid biopsies.

Advanced diagnostic tests can stratify patients for response, non-response, and adverse events to costly therapies and interventions that do not yield improvement or positive outcome for patients.

In this eBook, we offer a look at some of the promising diagnostic developments and trends in this area, tempered by the need to make financing considerations an essential part of the conversation.

Please fill out the form below to download the eBook, The Diagnostics Chapter of Precision Medicine.

Photo: Natali_Mis, Getty Images

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A look at the diagnostics chapter of precision medicine - MedCity News