Archive for the ‘Genetic Testing’ Category

A medicine from AstraZeneca and Merck & Co. has become the first of its type to slow the return of a particularly aggressive, hereditary form of breast cancer, a significant finding that may push doctors to do more genetic testing in patients with the disease.

The results, from a 1,836-patient study of a drug called Lynparza, are being presented at the American Society of Oncology's virtual meeting Sunday and were published Thursday in the New England Journal of Medicine. They've been anticipated ever since AstraZeneca and Merck in February surprisingly said the Phase 3 study succeeded, without giving details. They could help change care for patients with an inherited gene mutation associated with roughly 5% of all breast cancers.

"These results will transform the prognosis, overnight, for [these] patients," said Chatrick Paul, the head of AstraZeneca's U.S. oncology division.

Patients in the so-called OlympiA trial received either Lynparza or placebo for a year of "adjuvant" treatment, meaning after surgery to remove a tumor and standard drugs such as radiation, chemotherapy or hormone therapy. All participants inherited a mutation to a gene, BRCA1 or BRCA2, and were considered at high risk of cancer recurrence because of the size of their tumor or other factors. Their tumors were either HR-positive or triple-negative, two of the three main forms of breast cancer.

Among these patients, researchers found Lynparza reduced the risk of disease progression or death by 42% compared to a placebo after a median of 2.5 years of follow-up. About 86% of Lynparza-treated patients were cancer-free, versus 77% of those who got a placebo.

Patients on Lynparza also had a 43% lower risk of developing or dying from more lethal "distant" tumors that appear elsewhere.

Those numbers are "clinically meaningful and practice changing," said Sayeh Lavasani, an assistant clinical professor at City of Hope's Department of Medical Oncology & Therapeutics Research. Lavasani wasn't involved in the trial.

Follow-up is still limited, however, meaning it's unclear how long a year of Lynparza treatment will extend patients' lives data that Paul acknowledges is a "critical piece" of missing information.

The drug is "no walk in the park," added Debu Tripathy, the chair of MD Anderson Cancer Center's breast medical oncology department, referring to side effects like nausea, vomiting and diarrhea. In rarer cases, treatment was associated with severe anemia that can require a blood transfusion.

The authors of the study also admit they don't know how Lynparza compares to a type of chemotherapy, Xeloda, that has been proven an effective adjuvant treatment for some breast cancer patients.

Nonetheless, "this is a big win," said Tripathy, who also wasn't involved in the trial. Assuming approval from regulators, "patients with higher-risk cancers who have BRCA mutations will now be getting this."

The drugmakers aim to get the results in the hands of regulators "as quickly as possible," said Roy Baynes, Merck's senior vice president of global clinical development.

Breast cancer remains the most commonly diagnosed cancer as well as the second-leading cause of cancer death among women, despite substantial advances in treatment over the past few decades. The death rate associated with the disease declined 40% between 1989 and 2017, according to the American Cancer Society. Better early cancer detection is a big reason why.

A majority of early breast cancer patients are now cured of their disease, according to Tripathy. But about a third relapse. When they do, their cancers become much more deadly. In response, researchers have sought to bring new drugs like immunotherapies and other therapies known as CDK 4/6 inhibitors that have been approved in advanced disease into earlier settings, when they might stop cancers from returning.

Broadening use of these types of drugs comes with trade-offs, though. If cleared to lower the risk of recurrence, high-priced cancer drugs would likely become more widespread, raising costs for uninsured patients and, potentially, insurance premiums for others, Tripathy said. Insurers can block access as well; Lavasani is "hoping" they will cover Lynparza, should it be approved as an adjuvant treatment. Often, the drugs are approved on the likelihood, but not the certainty, that they'll help people live longer.

Clinicians and regulators also have to decide whether the benefits are worth added side effects for patients who tend to be younger and healthier. The FDA, for instance, asked Merck for more data when it rejected its immunotherapy Keytruda in early triple-negative breast cancer. An advisory panel was wary of the side effects associated with treatment, which Tripathy noted, can include permanent liver or kidney injury. (Merck has since gathered more data and intends to re-file for approval.)

Lynparza had what Lavasani, of City of Hope, called "acceptable toxicities," most frequently nausea and fatigue. Consistent with what's been reported in earlier testing, the only severe side effect seen in more than 5% of patients was anemia, which occurred in 79, or about 9%, of those who got Lynparza.

Those side effects were balanced against Lynparza's benefit in slowing breast cancer's return in patients who had inherited mutations to the BRCA1 or BRCA2 genes. These patients tend to develop cancers at a younger age, have faster-moving disease and a much higher risk of relapse, some studies have shown. OlympiA study authors noted, for instance, that almost one-quarter of patients on placebo with HR-positive cancer a typically slow-moving tumor had invasive disease or died within three years.

There were no marketed drugs specifically tailored to BRCA1 and BRCA2 breast cancers for patients with metastatic disease until the FDA approved Lynparza and Talzenna, another, similar PARP inhibitor from Pfizer, in 2018. Those approvals came amid early enthusiasm for PARP inhibitors, which are mainly used as "maintenance" therapies in ovarian cancer.

Testing for BRCA mutations, as a result, has lagged for those with early-stage disease: 60% to 70% of patients with triple-negative tumors, and 25% to 35% of HR-positive patients are being tested, according to Ipsos Healthcare's Global Oncology Monitor.

"It's not where it should be," says Paul, of AstraZeneca.

The OlympiA results, then, could change testing practice. The data are a "call to action" to make sure patients know their BRCA status, said Merck executive Baynes.

Oncologists, Tripathy added, may push to broaden testing guidelines for patients beyond those who get cancer at a young age or have a family history of BRCA mutations.

"We would like to get to a point someday when we take the risk totally away, that having breast cancer is no longer something that can lead to fatality," Tripathy said. "We got a little closer to that with this trial."

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An AstraZeneca, Merck drug slows the return of genetic breast cancer. Will testing speed up? - BioPharma Dive

Eight years later Adam, now 21 and a gymnastics coach, would have high blood pressure and experience a carotid artery blowout. Thankfully, though, his neck muscles saved his life.

The teeth abnormalities, as well as the carotid artery blowout, are likely due to the calcification in the body that patients with this illness can present, said Prasov. With the genetic testing, we were able to conclude this disease was Singleton-Merten syndrome type II an extremely rare, autosomal, dominant condition with only 3 families documented in literature.

With their collective expertise, the team was able to better characterize the familys symptoms: pediatric-onset glaucoma, spontaneous tendon rupture, arthritis, and a psoriasis-looking skin rash. Glaucoma and skin rash were the most prominent symptoms.

There werent many cases in literature to compare the familys disease presentation to, so Prasov, whose research focuses on inherited eye diseases, worked with colleagues at the National Institutes of Health and U-M clinician-scientists Johann Gudjonsson, M.D., Ph.D., a dermatologist, and J. Michelle Kahlenberg, M.D., Ph.D., a rheumatologist, to more deeply phenotype the family.

When looking for new genes, it can take a considerable amount of time. Once we could perform sequencing, we could move a lot faster to get a diagnosis. The Gibson family had an official diagnosis approximately a year after we performed the sequencing. said Prasov.

He adds that working in the field of genetics comes with certain challenges; the provider making the diagnosis wants to be absolutely certain that the genetic change is causing the disease, as it can have a big impact on clinical management.

More certainty came with the identification of another family across the globe in Belm, Brazil, that had a similar peculiar set of clinical findings and the same genetic variant in DDX58. By comparing notes among all of the identified families, Prasov and his team were able to give a definitive diagnosis.

But the final piece of this medical puzzle required additional work in the laboratory.

According to Prasov, very few families with mutations in DDX58 have a multi-system disorder featuring calcification in the body, skin rashes and childhood glaucoma.

Published in the Journal of Medical Genetics, Prasov led an international team, including researchers and clinicians from U-M, the NIH, Brazil, and Harvard, to provide the first complete molecular and histological assessment of the eye and skin findings in Singleton-Merten syndrome type II. Together, they definitively showed that the familys mutation behaves similarly to other mutant proteins in how it sets off an inflammatory cascade in the body in absence of a definitive RNA trigger.

Because of the communication between these doctors, more of this condition is now better understood, said Eryn. Their curiosity led to answers, but also helped us feel like we were finally being heard and cared about. Finally, after generations of unanswered questions and enormous health challenges someone took this seriously and had access to the resources to find answers about this condition.

Since skin is the most available tissue for molecular analysis, Gudjonsson and his team were able to obtain samples from Stan and Adam to compare Stans gene expression to his children. Somewhat surprisingly, they found that the inflammatory response was only active in affected skin, and not in neighboring skin or in the blood.

The study team also found that the family in Brazil had a more severe case of Singleton-Merten syndrome. By working with the Brazilian clinicians and researchers, Prasov was able to compare data and see if other genetic triggers or environmental influences affect the presentation of the disease.

This is something I want to explore more, he said. Rachel and Adam dont have many of the system effects of this disease, but they could develop them in the future. Understanding all the factors that may provoke more severe illness may help us be able to prevent those developments from occurring.

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The study reinforces the idea that genetic triggers or environmental influences may affect the presentation of Singleton-Merten syndrome, as the research team found that some family members carrying the mutation only have the most common feature of childhood glaucoma, while others have more extensive disease features that affect the immune system.

This means there could be other children in the world with this glaucoma that dont have the other features of the disease, said Prasov. But theyre at risk for developing those features later in life and suffer serious health consequences if providers dont know to look out for all these symptoms.

There are drugs like Rinvoq, a medication that Stan now takes, that can help calm the immune system and disrupt the downstream pathway associated with more serious disease. According to Stan, the medication has helped his skin discoloration resolve.

Im so grateful to know what this condition is. Knowing how to treat it would be a miracle, but you have to start somewhere, said Stan. This research will benefit my own children but also their children when they start families of their own. They know what to look out for.

This study highlights how a genetic diagnosis can have a big impact on clinical practice and patient outcomes, said Prasov. Understanding this disease pathogenesis is also important in the field of glaucoma care and research. Prasov now leads a multidisciplinary clinic in which he partners with pediatric medical geneticists to provide ophthalmic genetic care for families like the Gibsons.

The next step for the U-M research team is to generate an animal model to better understand the disease and hopefully find a targeted drug treatment that may have fewer side effects. They also plan to further study the role of DDX58 in the eye, since the RNA binding protein can sense viral infections like Rubella and Zika: viruses known to provoke glaucoma. The hope is that they can find a way to block this receptor or the downstream signaling, in turn preventing the glaucoma from developing.

Stan has a severe case of Singleton-Merten so my hope is that if researchers can crack his case, they can know how to treat anyone with the condition, said Eryn. If it wasnt for Kellogg Eye Center, both of my kids would be blind. Im just grateful beyond words.

This research was supported by the National Eye Institute (NEI K12 EY022299, NEI P30 EY07003, RBH, BG, and BPB), the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health (R01-AR060802, P30-AR075043 and K01-AR072129), the National Institute of Allergy and Infectious Diseases (R01-AR069071), the A. Alfred Taubman Medical Research Institute, the Parfet Emerging Scholar Award and the Roche Postdoctoral Fellowship.

Paper cited: DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation, Journal of Medical Genetics. DOI: 10.1136/jmedgenet-2020-10744

Originally posted here:
Family finds answers to rare, genetic glaucoma - University of Michigan Health System News

It is understood that while genes are the bodys blueprint its basic physical and functional unit of heredity not a lot of people pause to think about genetic anomalies or disorders that may be affecting their health.

Women, especially, are unaware of just how much their genes impact their health, and how prevention of certain genetic diseases can be done to ensure a healthy offspring.

Dr Hema Purandarey, consultant medical and reproductive geneticist, MedGenome Centre for Genetic Health Care shares with indianexpress.com some health conditions that women are more prone to through genetics, and the tests available to detect them.

1. Chromosomal aneuploidy in babies of expecting mothers: A condition in which a cell has an incorrect number of chromosomes. If there is an error in the normal processes of fertilization, there can be changes to the number or structures of chromosomes which can lead to an offspring with birth defects due to the abnormal structure or number.

The most commonly seen type of defect is an extra chromosome 21 called trisomy 21 or Down syndrome. Genetic screening and diagnostic tests are available with pre-test and post-test counselling which can identify these changes in the foetal state. These include specific noninvasive screening tests like NIPT and parental karyotypes and invasive diagnostic tests such as amniocentesis and chorionic villus sampling to identify the genetic makeup of the baby.

2. X-linked inherited disorders: Some disorders are X-linked, which means a female with 2X chromosomes will be a carrier, but if she passes this to her male offspring, it will be affected since males only inherit one X chromosome from their mother, the other being a Y chromosome inherited from the father. Finding out about carrier status prior to conception can help to plan genetic counselling. Testing is available for several such disorders like Fragile X, Hemophilia, Duchenne Muscular Dystrophy etc.

3. Hematological disorder screening: Couples have to be screened if they are carriers for common hematological disorders such as thalassemia and sickle cell disease. Consanguinity increases the risk of having any recessive genetic disorder by approximately 25 per cent.

A carrier screening test can help prevent both X-linked and conditions such as thalassemia and sickle cell anemia from being passed on. It also helps couples understand and plan better for their future. This is a comprehensive test screening, with the capability to detect mutations causing disease in more than 2,000 genes.

4. Recurrent pregnancy loss: Three or more consecutive pregnancy losses before 20 weeks from the last menstrual period are defined as recurrent pregnancy loss or RPL. Epidemiological studies show 1 per cent to 2 per cent of pregnant women suffer from RPL. Genetic causes of recurrent pregnancy losses account for about 2-5 per cent. Chromosomal or genetic abnormalities lead to most losses of pregnancy. The abnormality might come from the early embryo, egg, or sperm.

There are genetic tests that can help detect if the pregnancy loss was due to an abnormal number of chromosomes, and provide insights to plan and support a successful pregnancy in future.

5. Implantation failure during IVF: One in two human preimplantation-IVF embryos are chromosomally abnormal. This causes them to implant onto the uterine wall or not stay there long enough for a successful pregnancy. This leads to miscarriages and failed IVFs. If there is a family history of a genetic disorder, the fertilized embryo can be tested using pre-implantation genetic testing. If a donor was used, the donor sperm or the egg can be tested.

6. Hereditary breast and ovarian cancer: In women, approximately 15 per cent of all ovarian cancers and 7 per cent of all breast cancers are caused by mutations in the BRCA1 and BRCA2 genes. At present, we have predictive tests like BRCA1 and BRCA2 gene tests for this. Actor Angelina Jolie had a history of breast and ovarian cancer. So, she asked to be genetically tested and when it was clear she was susceptible, she had the required surgeries. Early detection can not only save life but also reduce the financial burden of advanced treatment.

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Genetic health conditions every woman should know about - The Indian Express

CHICAGO, June 4, 2021 /PRNewswire/ -- According to the new market research report "Animal Genetics Market by Products & Services (Live Animals (Poultry, Porcine, Bovine, Canine) Genetic Material (Semen (Bovine, Porcine), Embryo (Bovine, Equine)) Genetic Testing (DNA Testing, DNA Typing, Genetic Traits Testing)) - Global Forecast to 2026", published by MarketsandMarkets, the global market is projected to reach USD 7.7 billion by 2026 from USD 5.5 billion in 2021, at a CAGR of 7.1% during the forecast period.

Browse in-depth TOC on "Animal Genetics Market"

269 Tables 36 Figures 296 Pages

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The growth of this market is majorly attributed to the increasing consumption of animal-derived protein, growing global population & rapid urbanization, growing focus on identifying superior breeds, increased adoption of genetic services to prevent genetic diseases & business loss, and increased adoption of advanced genetic technologies. On the other hand, the shortage of skilled professionals in veterinary research is a key factor restraining market growth.

By product type segment, the live animals segment accounted for the largest market share during the forecast period.

Based on products and services, the animal genetics market has been segmented into live animals, genetics materials, and animal genetic testing services. The factors attributing to the large revenue of the live animals segment include high demand for live animals for breeding purposes. The introduction of disease-resistant animals has further boosted the demand for live animals, as they are economically viable for owners and increase their profitability.

Poultry accounted for the largest animal genetics marketshare in the live animals segment during the forecast period.

In the live animals segment, poultry accounted for the largest market share during the forecast period. This can be attributed to the strong demand for poultry and eggs in developed countries. Additionally, due to the growing population and rapid urbanization in developed countries, the demand coming from these regions is also increasing significantly.

In the segment of the genetic material, semen accounted for the largest market share during the forecast period.

Under the segment of the genetic material, semen held the largest share, most of which came from bovine semen during the forecast period. Growth in this market is mainly driven by the increasing need for raising highly productive animals to meet the growing demand for meat and other animal-derived products.

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Europe dominates the Animal Genetics market during the forecast period.

Europe accounted for the largest share of the market in 2020. Better accessibility to technologies and well-established distribution channels, the growing demand for livestock food products, high intake of animal-derived proteins, and increasing animal welfare activities are the major factor contributing to this.

The major players in the global animal genetics market include Neogen Corporation (US), Genus (UK), URUS (US), EW Group (Germany), Groupe Grimaud (France), CRV Holding (Netherlands), Topigs Norsvin (Netherlands), Zoetis (US), Envigo (US), Hendix Genetics (Netherlands), Animal Genetics (US), VetGen (US), DanBred (Denmark), Tropical Bovine Genetics (India), Trans Ova Genetics (US), Inguran LLC dba ST Genetics (US), Semex Alliance (Canada), Genetic Veterinary Sciences (US), Cobb-Vantress (US), Milk Source (US), and Eurogene AI Services (Ireland).

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Animal Genetics Market worth $7.7 billion by 2026 - Exclusive Report by MarketsandMarkets - PRNewswire

Top row, left to right: Steve Nelson, 4-year survivor; Anne Shimabukuro, 15-year survivor; Roberta Luna, 19-year survivor Bottom row, left to right: Teona Ducre, 5-year survivor; Cathy Schwandt, 8-year survivor; Nick Pifani, 4-year survivor

Editors note: In honor of National Cancer Survivors Day on June 6, 2021, we invited members of PanCANs Survivor Council to pass along encouraging words to pancreatic cancer patients and to also share what it means to them to be a survivor. The Survivor Council is a group of volunteers created to ensure the survivors voice, experience and expertise are integrated into PanCANs programs and initiatives. Today and every day, we honor all survivors and remember those whove lost their life to the disease. We are here for everyone affected by pancreatic cancer.

PanCAN: Celebrating life is one of the themes of National Cancer Survivors Day. How do you celebrate life?

Teona Ducre: I do my best to practice gratitude every day.Since surviving cancer, I understand that even the little things I may have taken for granted before seeing my children smile, hanging out with friends and family on a random Tuesday afternoon, or just waking up in the morning are really big blessings.

Roberta Luna: I celebrate life by savoring every moment, not taking anyone or anything for granted, trying to be the best person I can.Stop and smell the flowers, dance like nobodys watching, sing like no one is listening! I know these are all clich but when youve been given what seems like a death sentence, the little things really take on new meaning.

Steve Nelson: I celebrate every time I find an opportunity to tell my story of hope.

Nick Pifani: I celebrate life by making memories with the people I love and making a difference for a better tomorrow. I share my story with newly diagnosed patients with the goal of giving them hope.

Anne Shimabukuro: I value my time more. My priorities have shifted my family and my health come first. I am more willing to say no than I was before.

PanCAN: Have you started any new traditions since your cancer diagnosis?

Roberta: On April 9, 2013, a group of survivors, family and friends and I celebrated life by jumping out of an airplane. What we thought was a one-time event has turned into an annual tradition. Every April, for eight years and counting, a group of us skydive from a height of 14,000 feet. Theres always at least one first-time jumper with us.

Nick: Every year we celebrate my Whipple surgery anniversary. I was fortunate to come out of surgery cancer-free and I consider it a second birthday because I got a second chance at life.

PanCAN: What is your advice for people living with pancreatic cancer or for those who are newly diagnosed?

Roberta: My advice to someone newly diagnosed is to get all the information, but dont let it weigh you down. Ask questions, be your own advocate, remember to enjoy life and keep fighting.

Steve: Never give up hope! I have a brother who is a 17-year survivor.And as a member of PanCANs Survivor Council, I know many others who have beaten the odds, and those odds get better every year.You could be next!

Nick: Remember that you are not a number and you dont fall into a specific category or statistic. If youve been recently diagnosed, contact PanCANs Patient Services and get genetic testing.

Anne: If youre living with pancreatic cancer, keep living! Do what you love. And give yourself a break. If youve been recently diagnosed, dont think about thestatistics. Your case is unique and its the only case you should care about. Put yourself first. And dont be afraid to ask for help.

PanCAN: What does it mean to you to be a survivor?

Teona: It means I can accomplish anything. Whenever I am faced with a challenge, I think, This is nothing. You survived one of the deadliest cancers in the world so you can do this, too. I also get the privilege to share my story to encourage others and that means a lot to me.

Roberta: To be a survivor means Ive been given a very special precious gift, the gift of life, the gift to love more deeply, the gift to inspire someone, to make a difference, to give back, to do better.

Steve: Due to genetic testing and a regular screening regimen, my cancer was discovered early. I encourage anyone with first or second-degree relatives who have or have had pancreatic cancer to get tested for genetic mutations. And if they find they have a mutation, to embrace regular screenings. It could save their life, like it did mine!

Nick: My story is different because I lost three family members to the disease I am the lone survivor. As a survivor, I carry a piece of my lost family members with me it inspires me to make a difference in this fight. This is how I honor them and make sure their cancer battle is never forgotten.

Cathy: We, the survivors, need to be the voice for all those who are no longer here.

Anne: As a 15-plus-year survivor, my survivorship is not always top of mind its now a part of me. This journey has given me strength as well as more self-confidence. Ill often remind myself, I conquered pancreatic cancer; I can deal with anything.

Read the original here:
Long-time pancreatic cancer survivors offer inspiration and advice - Pancreatic Cancer News & Stories

The role genetics play in atrial fibrillation (AF) complications such as heart failure and stroke will be investigated as part of new research involving UNSW researchers.

Led by Victor Chang Cardiac Research Institutes scientist and UNSW Conjoint Professor Diane Fatkin, the multicentre research team were awarded $1 million by The Heart Foundation to gain new knowledge about genetic causes of AF.

The condition is a major public health problem with one in three individuals at risk of developing it in their lifetime.

Prof. Fatkin said the research being done by her team is breaking fresh ground, and further advancement would not be possible without the recent financial boost.

This will really allow us to do in-depth genetic analyses on our patients, and we already have a large cohort of [those] available. This will enable us to do these genetic analyses for the first time in Australia, so it really is a major new initiative, she said.

We will use cutting-edge tools for rapid low-cost genetic analyses of AF patient cohorts that will enable us, for the first time, to look at single-gene mutations, genetic risk scores, and genetic effects on anti-arrhythmic drug metabolism. The cost and outcomes of genetic testing, and patient preferences for testing, will also be assessed.

AF is a disorder of the hearts electrical activity that can lead to stroke, heart failure and even early death.

A persons genetic make-up is an important determinant of AF susceptibility, but genetic information is not part of current patient care.

Scientists at the Victor Chang Cardiac Research Institute and UNSW would like that to change.

Prof. Fatkin said those facing choices about their treatment may really benefit from knowledge about genetic influences when selecting appropriate drug therapies or interventions, such as ablation therapy.

Genetics, we are thinking, may also be important for predicting the risk of recurrence of atrial fibrillation after the ablation procedures, she said.

Our data will define high-risk patient subsets and have direct implications for the screening and clinical management of family members.

Prof. Fatkin is looking at different types of patients across the research. Some have a family history of AF and the collated data will help identify family members also at risk of developing AF in the future.

Another group that is part of the research includes those without a clear family history of AF but who still have the condition.

A third group being studied is athletes who have developed AF after a lifetime of competitive sporting activity.

Prof. Fatkin hopes this research will lead to the ability to predict which athletes are likely to have heart problems in the future.

This may inform sports choices even in young kids, and we can advise those who are at high genetic risk to potentially change the type of sport that they participate in, she said.

The Heart Foundations Strategic Grants are awarded with the aim to generate innovative and collaborative research projects in the areas where identified gaps in cardiovascular health exist.

The 2020 Predictive Modelling Grant was awarded to Prof. Fatkin to investigate the role of genetics for risk stratification in AF.

See the original post here:
Genetic links to be investigated in ground-breaking heart rhythm research - UNSW Newsroom

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The research report has incorporated the analysis of different factors that augment the markets growth. It constitutes trends, restraints, and drivers that transform the market in either a positive or negative manner. This section also provides the scope of different segments and applications that can potentially influence the market in the future. The report entails detailed profiling of each company, and information on capacity, production, price, revenue, cost, gross, gross margin, sales volume, sales revenue, consumption, growth rate, import, export, supply, future strategies, and the technological developments, are also included within the scope of the report. In the end, the Genetic Testing Market Report delivers a conclusion which includes Breakdown and Data Triangulation, Consumer Needs/Customer Preference Change, Research Findings, Market Size Estimation, Data Source. These factors are expected to augment the overall business growth.

Competitive Landscape:This section of the report identifies various key manufacturers of the market. It helps the reader understand the strategies and collaborations that players are focusing on combat competition in the market. The comprehensive report provides a significant microscopic look at the market. The reader can identify the footprints of the manufacturers by knowing about the global revenue of manufacturers, the global price of manufacturers, and production by manufacturers during the forecast period of 2021 to 2028. Company profile section of players such asGeneDx, Invitae, Pathway Genomics, Counsyl Inc, Asper Biotech, GenePlanet, Courtagen Life Sciences, Gene By Gene, Natera Inc, Regulatory, GeneTests, United Gene, HI Gene, Berry Genomics, 23andMe Inc, 360Jiyin, Novogene, CapitalBio, Agen, Biomedlab, Biomarker, Annoroad, Aiyin Gene, Aijiyin, Repconex, Find Bio-Tech, SinoGenoMax, Gene Kang, Geeppine, BGI.

Geographical data will help the reader understand the best performing regions. This report has added an examination and increment pace of the market in these districts covering North America (United States, Canada and Mexico) Europe (Germany, France, UK, Russia and Italy) Asia-Pacific (China, Japan, Korea, India and Southeast Asia) South America (Brazil, Argentina, Colombia etc.) Middle East and Africa (Saudi Arabia, UAE, Egypt, Nigeria and South Africa)

Global Genetic Testing Market by Type:Newborn Screening, Diagnostic Testing, Carrier Testing, Preimplantation Genetic Diagnosis, Prenatal Diagnosis, Predictive and Presymptomatic Testing, Pharmacogenomics

Global Genetic Testing market segments by Applications:Cardiology, Dermatology, Hematology, Hereditary Cancer, Immunology, Metabolic Disorders and Newborn Screening, Neurology, Ophthalmology, Pediatric Genetics, Others

The key points covered in this report are: This report offering the outline of the market, market size and share, and growth rate over the forecast period 2021-2028 The report covers the data of the top regions, product type, application, market value and size, industry verticals, and end-users of the market. It also states the up-to-date landscape, historical data, and future forecast of the market. To realize the supply and demand analytics, including supply and consumption ratio, mapping of the market has been carried out. Porters five forces analysis and SWOT analysis, including the cost structure analysis, has been carried out in this report. The report also offers a Six-year prediction examination on the basis of how the market is foreseen to grow.

The Global Genetic Testing report offers: Market share assessments for the regional and country level segments. Market share analysis of the top industry players. Strategic recommendations for the new entrants. Market forecasts for a minimum of 6 years of all the mentioned segments, sub segments and the regional markets. Market Trends (Drivers, Constraints, Opportunities, Threats, Challenges, Investment Opportunities, and recommendations). Strategic recommendations in key business segments based on the market estimations. Competitive landscaping mapping the key common trends. Company profiling with detailed strategies, financials, and recent developments. Supply chain trends mapping the latest technological advancements.

Why To Buy Report?1.It offers a comprehensive analysis of industry-based verticals.2.It offers 2021-2028-year forecast assessment on the basis of markets growth.3.It helps in understanding the key segments and sub-segments.4.It provides review from different stakeholders, vendors, and clients for the Genetic Testing Market.5.Track the competitive developments as well as research and developments in the global Genetic Testing Market.6.What are the key consequences of the five forces analysis of the Global Genetic Testing market

The report can help to know the market and strategize for business expansion accordingly. Within the strategy analysis, it gives insights from market positioning and marketing channel to potential growth strategies, providing in-depth analysis for brand fresh entrants or exists competitors within the Genetic Testing industry. Global Genetic Testing Market Report 2021 provides exclusive statistics, data, information, trends and competitive landscape details during this niche sector.

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Moreover, the report provides knowledge of the leading market players within the Genetic Testing market. The industry changing factors for the market segments are explored in this report. This analysis report covers the growth factors of the worldwide market based on end-users. In 2020, the market was growing at a mild rate and with the rising adoption of strategies by key players, the market is predicted to rise over the projected horizon. The report also tracks the most recent market dynamics, like driving factors, restraining factors, and industry news like mergers, acquisitions, and investments.

Customization of the Report:1)All segmentation provided above in this report is represented at country level.2)All products covered in the market, product volume and average selling prices will be included as customizable options which may acquire no or minimal additional cost (depends on customization).

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Continued here:
Global Genetic Testing Market Trends, Forecast and Competitive Analysis (2021-2028) | GeneDx,Invitae,Pathway Genomics The Manomet Current - The...

In the second part of our whats exciting the experts series, Medical News Today spoke with another group of cancer experts. We asked them what recent advances have given them the most hope. Here, we provide a sneak peek at the fascinating forefront of cancer research in 2021.

Cancer is not a single disease but a collection of diseases. It is complex and does not readily give up its secrets. Despite the challenges cancer poses, scientists and clinicians continue to hone the way in which they diagnose and treat it.

Modern medicine means that diagnosis rates for many cancers are up, as are survival rates. However, with an estimated 19.3 million new cases of cancer worldwide in 2020, there is still much work to be done.

MNT recently contacted a number of medical experts and researchers and asked them to speak about the aspects of cancer research that they find most exciting. Their answers are fascinating and demonstrate the incredible variety of approaches that scientists are using to understand and combat cancer.

We will start todays journey into cutting edge oncology with a surprising guest: magnetically responsive bacteria.

Due to the difficulty of targeting systemically delivered therapeutics for cancer, interest has grown in exploiting biological agents to enhance tumor accumulation, explained Prof. Simone Schrle-Finke, Ph.D., from ETH Zurich in Switzerland.

In other words, getting cancer drugs to the right place is not as straightforward as one might hope. Prof. Schrle-Finke is among the researchers who are now enlisting the help of specialized bacteria.

She told MNT how scientists have known for a century that certain bacteria can colonize tumors and trigger regression. She explained that today, thanks to modern genetic engineering techniques, attenuated bacteria are available that can have a therapeutic effect exactly where this is necessary.

These therapeutic effects include secretion of toxins, competition for nutrients, and modulation of immune responses.

However, despite the promise of bacterial cancer therapy, there are still challenges to meet. Delivering the doses to the right place and getting them into the tumor remain foremost among challenges hampering clinical translation only about 1% of a systemically injected dose reaches the tumor, explained Prof. Schrle-Finke.

To address these challenges, her team at ETH Zurich is using magnetically responsive bacteria.

These so-called magnetotactic bacteria naturally orient themselves like compass needles to Earths magnetic field.

Although this ability evolved for navigation, scientists are keen to find out whether magnetic steering or pulling could allow them to repurpose it for cancer delivery.

In a recent study, Prof. Schrle-Finke and her colleagues used rotating magnetic fields to override the bacterias natural propulsion. As the authors of the study explain, they used swarms of magnetotactic bacteria to create a directable living ferrofluid.

These magnetotactic bacteria have a high demand for iron, so once they reach the tumor, as Prof. Schrle-Finke told MNT, they can metabolically influence cancer cells through starvation from this vital nutrient. We have shown in in vitro models that an increasing number of bacteria induce an upregulation of iron-scavenging receptors and death in cancer cells.

By uniting engineering principles and synthetic biology, we aim to provide a new framework for bacterial cancer therapy that addresses a major remaining hurdle by improving the efficiency of bacterial delivery using safe and scalable magnetic stimuli to these promising living therapeutic platforms.

Prof. Simone Schrle-Finke, Ph.D.

Personalized medicine is transforming the landscape of medicine and how healthcare providers can offer and plan personalized care for each of their patients, believes Dr. Santosh Kesari, Ph.D., director of neuro-oncology at Providence Saint Johns Health Center in Santa Monica, CA.

Dr. Kesari is also chair of the Department of Translational Neurosciences at Saint Johns Cancer Institute and regional medical director for the Research Clinical Institute of Providence Southern California.

Describing personalized medicine, Dr. Kesari said, It is an approach for disease prevention and treatment that takes into account biological, genetic, behavioral, environmental, and social risk factors that are unique to every individual.

He continued, Personalized medicine is rooted in early detection and prevention; integrating data from genomics and other advanced technologies; digital health monitoring; and incorporating the latest medical innovations for optimizing outcomes.

This is becoming very apparent in oncology, where genetic testing for tumor mutations and predispositions is increasingly being utilized and showing more value in using targeted drugs more wisely and improving outcomes.

Dr. Santosh Kesari, Ph.D.

Some personalized cancer approaches are already in use, such as EGFR, HER2, and NTRK inhibitors and the super personalized CAR-T cells.

According to Dr. Kesari, the future of personalization is bright, and progress has only accelerated in the past 5 years.

Continuing with the personalization theme, Dr. Robert Dallmann from Warwick Medical School at Warwick University in the United Kingdom talked with us about chronotherapy:

Propelled by the 2017 Nobel Prize in Medicine or Physiology [going] to three circadian biologists for uncovering the molecular mechanism of circadian biological clocks, cancer chronotherapy is gaining critical momentum to enter mainstream oncology especially in the context of personalized medicine.

Dr. Dallmann explained that many key physiological processes in the cells of our body are modulated in a daily fashion by the circadian clock. These cellular clocks are disrupted in some tumors but not in others.

Interestingly, a functional clock in the tumor predicts the survival time of patients, which has been shown for brain as well as breast tumors.

Therefore, he explained, if scientists could determine the clock status in solid tumors, it would allow doctors to more easily determine whether a patient is at high or low risk. It might also help guide therapy.

There is great potential in optimizing treatment plans with existing drugs by taking into account the interaction with the circadian system of the patient, continued Dr. Dallmann.

More recently, the circadian clock mechanism itself has been proposed as a novel treatment target in glioblastoma. The authors of the glioblastoma study concluded that pharmacologic targeting of circadian networks specifically disrupted cancer stem cell growth and self-renewal.

However, whether this might be generalized to many solid tumors or even other chronic diseases remains to be elucidated, said Dr. Dallmann.

In summary, he told MNT, circadian clocks have long been recognized to modulate chronic disease on many levels. The increased mechanistic understanding has the potential to improve diagnosis and existing treatments of cancer, as well as develop a new class of clock-targeting treatments.

Dr. Chung-Han Lee is a medical oncologist at Memorial Sloan Kettering Cancer Center in New York. He is also a member of the Kidney Cancer Associations Medical Steering Committee. He talked us through recent advances in the treatment of kidney cancer.

The development and subsequent regulatory approval of combination immunotherapy for patients with metastatic kidney cancer have led to transformative change in the lives of many patients and are the hallmark of how greater scientific understanding has impacted cancer care, Dr. Lee told MNT.

Prior to 2005, treatment for metastatic kidney cancer was very limited, with most patients passing away in less than 1 year despite undergoing treatment. According to Dr. Lee, the development of antiangiogenic drugs that inhibit the growth of new blood vessels was among the first breakthroughs to improve the outcomes for patients.

However, even with antiangiogenic drugs, most patients ultimately developed resistance to treatment, and 18 months was considered a long-term response. Next came immunotherapies.

Prior to the development of antiangiogenic medications, it was known that kidney cancer could be treated by activating the immune system to better recognize the disease. However, the tools to activate the immune system were often very nonspecific. Therefore, responses to these early immunotherapies were rare, and the side effects related to treatment were not only burdensome but also could be life threatening.

With recent advances in immunotherapy, we have demonstrated that more targeted immunotherapies that activate specific immune checkpoints are not only possible but can have substantially increased activity against disease.

Two emerging treatment approaches have now become the new standard of care for kidney cancer: dual immunotherapies (such as ipilimumab/nivolumab) or combinations of antiangiogenic targeted therapies with immunotherapies (such as axitinib/pembrolizumab).

In patients treated with ipilimumab and nivolumab, over 50% remain alive at 4 years, and with some [combined antiangiogenic and immunotherapy approaches], nearly 50% of patients remain on their initial therapy at 2 years.

Despite these advances, Dr. Lee is far from complacent, telling us that there remains considerable work to be done. [] Unfortunately, in 2021, for most patients, kidney cancer remains fatal. Even for those who have outstanding responses to treatment, most still require ongoing systemic therapy.

With the rapid improvements in treatments, the development of correlative biomarkers, and the improved biologic understanding of the disease, we have only started to entertain the possibility of curative, time-limited therapy.

Building on the sacrifices of patients and caregivers and the hard work of clinicians, research staff, and scientists, a cure may, one day, be a reality for our patients, he concluded.

Our study from late 2020 has shown that the antidepressant sertraline helps to inhibit the growth of cancer cells in mice, Prof. Kim De Keersmaecker from KU LEUVEN in Belgium told MNT.

Other studies had already indicated that the commonly used antidepressant has anticancer activity, but there was no explanation for the cause of this. Weve been able to demonstrate that sertraline inhibits the production of serine and glycine, causing decreased growth of cancer cells.

Cancer cells and healthy cells are often reliant on the amino acids serine and glycine, which they extract from their environment. However, certain cancer cells produce serine and glycine within the cell. They can become addicted to this production.

This internal production of serine and glycine requires certain enzymes, and these enzymes have become targets for cancer researchers. Preventing them from functioning can starve the cancer cells.

Previous studies have identified inhibitors of serine/glycine synthesis enzymes, but none have reached the clinical trial stage. As the authors of a KU LEUVEN study note, because sertraline is a clinically used drug that can safely be used in humans, it might make a good candidate.

Prof. De Keersmaecker explained that when used with other therapeutics, the drug strongly inhibited the growth of cancer cells in the mice.

The authors of the study concluded: Collectively, this work provides a novel and cost efficient treatment option for the rapidly growing list of serine/glycine synthesis-addicted cancers.

Christy Maksoudian from the NanoHealth & Optical Imaging Group team at KE LEUVEN is excited about the promise of nanotechnology for the treatment of cancer. She told MNT that because of the unique properties that emerge at such a small scale, nanoparticles can be designed in a multitude of ways to exhibit specific behaviors in organisms.

Currently, she explained, many available nanoformulations in the clinic are composed of organic materials because of their biocompatibility and safety. In this context, organic refers to compounds that include carbon.

However, she explains that inorganic nanomaterials, which do not contain carbon, also hold promise for cancer treatment because they possess further functionalities.

For instance, some magnetic nanoparticles, such as those of superparamagnetic iron oxide, can be magnetically guided toward the tumor, while gold nanoparticles generate heat upon exposure to near-infrared light and can, therefore, be used for photothermal therapy (via tumor tissue ablation).

In short, it is possible to introduce gold nanoparticles to the bloodstream of people with cancer. From there, these nanoparticles accumulate in tumors because tumors have particularly leaky blood vessels. Once that region is exposed to near-infrared light, the gold nanoparticles heat up and, consequently, kill cancer cells.

Because of the potential of such broad range of nanomaterial designs, there are always novel cancer therapies being developed.

Christy Maksoudian

I am excited to take part in this movement with my work on copper oxide nanoparticles. Maksoudian and her colleagues use copper oxide nanoparticles doped with 6% iron.

Maksoudian told MNT that these nanoparticles exploit intrinsic metabolic differences between cancer cells and healthy cells to induce high levels of toxicity in cancer cells while only causing reversible damage in healthy tissue.

The fact that such cancer-selective properties can arise due to minor modifications of the nanoparticles at the nanoscale is truly extraordinary and reaffirms the significant role that nanomedicine can play in expanding the treatment landscape for oncology.

Cancer is complex, so approaches to its treatment must match that complexity. As the summaries above demonstrate, scientists are not short on ingenuity, and the battle against cancer continues at pace.

Read the first part of our series on cancer researchers and their exciting work here.

Read more from the original source:
Cancer research: New advances and innovations - Medical News Today

This article was originally published here

Breast Cancer Res Treat. 2021 Jun 4. doi: 10.1007/s10549-021-06258-9. Online ahead of print.

ABSTRACT

BACKGROUND: Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS), the most common inherited cancer syndromes, are attributed to a single heterozygous pathogenic variant (PV) in BRCA1/2 or in a DNA MMR gene, respectively. Little is known about the phenotype in double heterozygotes who carry PVs in both genes.

METHODS: Carriers of double-PVs in any DNA MMR gene and BRCA1/2 attending one of three tertiary oncogenetic clinics between 1/2005 and 1/2020 were identified by database search, and their relevant data were retrieved and analyzed.

RESULTS: Eleven double carriers from four seemingly unrelated Ashkenazi Jewish families were evaluated. All carried an Ashkenazi Jewish founder BRCA PV, BRCA2 c.5946delT/c.6174delT (n = 10) or BRCA1 c.185delAG (n = 1). Four carried the MSH2 c.1906G > C founder PV, and 3, the MSH6 c.3984_3987dupGTCA founder PV; 3 patients had the MSH6 c.3956_3957dup PV. Eight double carriers (73%) had cancer: breast cancer (5 cases, 2 bilateral), melanoma (2 cases), urothelial cancer (2 cases), and colon, endometrial, prostate, cutaneous squamous cell cancer, glioblastoma, gastric stromal tumor, and lymphoma (1 case each). Six carriers had 1-2 tumors, one had 3 tumors, and one had 5 primary tumors. Age at diagnosis of the first tumor was 36-76 years. All carriers met NCCN BRCA1/2 testing criteria, and 3 met the revised Bethesda guidelines.

CONCLUSIONS: This case series, supported by the literature, suggests that the phenotype of double MSH2/6 and BRCA1/2 carriers is not associated with early disease onset or a more severe phenotype. The findings have implications for improved genetic testing guidelines and treatment strategies.

PMID:34086170 | DOI:10.1007/s10549-021-06258-9

Original post:
Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications - DocWire News

(India, Maharashtra, Pune)Report Covers the Detailed Pre and Post COVID-19 Impact Analysis on Direct-To-Consumer (DTC) Genetic Testing Market

This report conducts the global Direct-To-Consumer (DTC) Genetic Testing market size based on capacity, value, production and consumption data across the region such as North America, Europe, Asia Pacific, Latin America, and the Middle East & Africa. This study categorizes the global Direct-To-Consumer (DTC) Genetic Testing breakdown data by manufacturers, region, type and application, also analyzes the market status, market share, market drivers, upcoming opportunities, CAGR, trends, and challenges, risks and entry barriers, sales channels, distributors, SWOT, PESTLE, and Porters Five Forces Analysis.

The Direct-To-Consumer (DTC) Genetic Testing Market is expected to grow from USD XX billion in 2020 to USD XX billion by 2027, at a Compound Annual Growth Rate (CAGR) of XX% during the forecast period. The research provides insights for the global Direct-To-Consumer (DTC) Genetic Testing market based on different types, end-users and regions, and competitive landscape of these segments is analysed in more detail.

Download Sample for This Research Report @ https://www.themarketinsights.com/request-sample/192009

Various market influence factors are taken into consideration in the analysis, and potential developing factors for different types, end-users, regions, and countries are also included in the report in order to figure out the most promising development trends in the Direct-To-Consumer (DTC) Genetic Testing industry. The market capacity and consumption potential of more than 35 major players are covered in the research, providing valuable opinions of strategic adjustments for existing groups and new entrants, across the regions such as North America, Europe, Asia Pacific and Latin America, Middle East & Africa.

The Snapshot of Global Direct-To-Consumer (DTC) Genetic Testing Market Segmentations:

The Key Direct-To-Consumer (DTC) Genetic Testing Market Players Associated with the Industry are:, Color Genomics, Inc., Gene by Gene, Ltd., Laboratory Corporation of America Holdings, 23andMe, Inc., Sonora Quest Laboratories LLC, Request A Test, Ltd., Direct Laboratory Services, LLC, Mapmygenome India Limited, Any Lab Test Now, Ancestry.com, LLC, Xcode Life Sciences, Quest Diagnostics, Inc., Counsyl, Inc., Positive Bioscience, Inc.

Market, By Types:, Carrier Testing, Predictive Testing, Ancestry & Relationship Testing, Nutrigenomics Testing

Market, By Application:, Hospital, Doctors Office, Other

By Region, North America, U.S., Europe, UK, France, Germany, Asia Pacific, China, Japan, India, Latin America, Brazil, Middle East and Africa

Request Customization@ https://www.themarketinsights.com/request-customization/192009

Key Reasons to Purchas: , To gain insightful analyses of the market and have comprehensive understanding of the global market and its commercial landscape., Assess the production processes, major issues, and solutions to mitigate the development risk., To understand the most affecting driving and restraining forces in the market and its impact in the global market., Learn about the market strategies that are being adopted by leading respective organizations., To understand the future outlook and prospects for the market., Besides the standard structure reports, we also provide custom research according to specific requirements.

Covid-19 Scenario, Post the COVID-19 infection global economy has been disrupted and our reports cannot afford to escape its impact, be it market engineering or write ups. All the reports published needs to consider this COVID pandemic since it is going it affect all the verticals and all the segments in which we operate and conduct market research.

The report covered 4 major scenarios which would affect the global markets post COVID-19 infection and it needs to consider them in our analysis as the new reports would be purely purchased by our clients to understand how would be the recovery of their respective markets occur over the time. The scenarios include:

There are 4 scenarios of recovery, 1) V shaped recovery rapid decline sharp bottom-rapid recovery, 2) U shaped recovery -rapid decline early- gradual at bottom slow recovery at first faster recovery later on, 3) L shaped recovery rapid decline then slow growth, 4) W shaped recovery -rapid decline rapid recovery- return of virus another sharp decline -recovery

To Check Discount @ https://www.themarketinsights.com/check-discount/192009

Some Point of Table of Content:

Chapter One: Direct-To-Consumer (DTC) Genetic Testing Introduction and Market Overview

Chapter Two: Executive Summary

Chapter Three: Industry Chain Analysis

Chapter Four: Global Direct-To-Consumer (DTC) Genetic Testing Market, by Type

Chapter Five: Direct-To-Consumer (DTC) Genetic Testing Market, by Application

Chapter Six: Global Direct-To-Consumer (DTC) Genetic Testing Market Analysis by Regions

Chapter Seven: North America Direct-To-Consumer (DTC) Genetic Testing Market Analysis by Countries

Chapter Eight: Europe Direct-To-Consumer (DTC) Genetic Testing Market Analysis by Countries

Chapter Nine: Asia Pacific Direct-To-Consumer (DTC) Genetic Testing Market Analysis by Countries

Chapter Ten: Middle East and Africa Direct-To-Consumer (DTC) Genetic Testing Market Analysis by Countries

Chapter Eleven: South America Direct-To-Consumer (DTC) Genetic Testing Market Analysis by Countries

Chapter Twelve: Competitive Landscape

Chapter Thirteen: Industry Outlook

Chapter Fourteen: Global Direct-To-Consumer (DTC) Genetic Testing Market Forecast

Chapter Fifteen: New Project Feasibility Analysis

Access Full Report@ https://www.themarketinsights.com/report/direct-to-consumer-dtc-genetic-testing-market-192009

About us.The Market Insights is a sister company to SI Market research and The Market Insights is into reselling. The Market Insights is a company that is creating cutting edge, futuristic and informative reports in many different areas. Some of the most common areas where we generate reports are industry reports, country reports, company reports and everything in between. At The Market Insights, we give our clients the best reports that can be made in the market. Our reports are not only about market statistics, but they also contain a lot of information about new and niche company profiles. The companies that feature in our reports are pre-eminent. The database of the reports on market research is constantly updated by us. This database contains a broad variety of reports from the cardinal industries. Our clients have direct access online to our databases. This is done to ensure that the client is always provided with what they need. Based on these needs, we at The Market Insights also include insights from experts about the global industries, market trends as well as the products in the market. These resources that we prepare are also available on our database for our esteemed clients to use. It is our duty at The Market Insights to ensure that our clients find success in their endeavors and we do everything that we can to help make that possible.

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Direct-To-Consumer (DTC) Genetic Testing Comprehensive Analysis on Global Market Report by Company, by Dynamics, by Region, by Type, by Application...

"Cancer is a disease of genetics, yet clinical practice has struggled to keep pace with rapid advancements in research, particularly with respect to the role of germline genetics. Testing guidelines and medical policy often codify barriers, further lengthening the path to adoption of widespread testing and in some cases restricting access to precision therapies and clinical treatment trials," said Ed Esplin, M.D., Ph.D., FACMG, FACP, clinical geneticist at Invitae. "Research presented at ASCO shows that cancer-linked genetic changes are common across cancer types and when patients do receive germline testing, over two thirds of those with positive results are eligible for changes to their treatment plans. It's clear that incorporating germline testing alongside tumor profiling can help oncologists better tailor treatment for each patient."

Data from 250 pancreatic cancer patients from the landmark INTERCEPT study conducted at the Mayo Clinic found that nearly one in six patients with pancreatic cancer (n=38) showed cancer-linked genetic changes and, importantly, receiving germline testing was associated with improved survival.

A separate study of prostate cancer patients confirmed similar findings in other cancer types that limiting testing deprives patients and clinicians of actionable information. In the first-ever presentation of the PROCLAIM study, which was conducted primarily in community urology clinics, of patients diagnosed with prostate cancer, a significant number of cancer-linked variants were missed if testing was done based on NCCN guidelines. Of the 532 patients with clinician-reported data, nearly half, 45% (n=239), did not meet NCCN criteria. Overall, 59 patients had a cancer-linked variant; one in 10 of them did not meet the criteria (9.6%, n=23), and 12.3% (n=36) of patients met the criteria. When a 12-gene panel was used, only 29 patients were found to have a cancer-linked variant and one third of these patients were missed by guidelines.

A third study showed simply changing medical policy is not enough to drive changes in clinician adoption. In a review of two independent datasets, including commercially insured and Medicare Advantage enrollees, only 3% (n=1,675) of the 55,595 colorectal cancer patients received germline genetic testing, despite medical policy recommending germline genetic testing for all colorectal cancer patients (consistent with the INTERCEPT colorectal cancer study). Of the patients who received testing, 18% (n=143) had a cancer-linked variant and two thirds, or 67% (n=96), of those patients were potentially eligible for precision therapy and/or clinical trials.

"The data have been available for years that show knowing what changes patients have in their genes is beneficial to treating their cancer. Yet the oncology community has been slower to adopt germline testing than tumor profiling, for reasons that are not entirely clear. These data presented at ASCO highlight the need for oncologists to embrace germline genetic testing as routine practice for all cancer patients," said Robert Nussbaum, M.D., chief medical officer at Invitae. "A positive germline genetic result may enable patients to enroll in clinical trials or gain access to new precision medicines. And equally important, the discovery of an inherited variant can alert relatives to seek out earlier cancer screening, helping avoid later-stage diagnoses and offering a treatment benefit if cancer develops."

Invitae aims to help overcome obstacles to the adoption of genetic testing by providing physicians with clinical consults to help interpret results and reducing cost as a barrier to genetic information. Invitae also provides patients direct access to genetic counselors, helping to integrate routine genetic testing into patient care with GIA, a HIPAA-compliant chatbot. Family members are also able to receive no-charge genetic testing if a positive result is found.

Details of the 2021 ASCO presentations:

Oral Abstract Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Discussion Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Prevention, Risk Reduction, and Hereditary Cancer

Poster Session: Gastrointestinal Cancer--GastroesophageaI, Pancreatic, and Hepatobiliary

About InvitaeInvitae Corporation(NYSE: NVTA) is a leading medical genetics company whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company's website atinvitae.com.

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of germline testing and genetic information; and that the data presented at ASCO highlight the need for increased germline testing in all cancer patients regardless of medical policy. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended March 31, 2021. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://www.invitae.com

Here is the original post:
Germline genetic testing can benefit all cancer patients as a routine practice in cancer care - PRNewswire

ADELAIDE, Australia, May 25, 2021 /PRNewswire/ --IVF Life Group, a leading group of IVF clinics across Spain, UK, and Germany, will be among the first in Europe to use Artificial Intelligence (AI) to non-invasively assess embryos to determine their genetic integrity. The AI product Life Whisperer, developed by global healthcare company Presagen, uses images of embryos to assess their quality to assist with embryo selection, and ultimately improve IVF outcomes for patients.

Currently, PGT-A genetic testing is one of the most used techniques that requires careful removal of three to five cells from an embryo to analyse its genetic integrity. As the procedure is still not available in some countries, and is quite invasive, Life Whisperer and its AI technology can also assist with this assessment.

Life Whisperer Genetics, which this month received CE Mark in Europe, requires only standard camera images of embryos to assess their genetic integrity. In a US study simulating 91,500 individual patient embryo cohorts, Life Whisperer Genetics ranked the genetically normal (euploid) embryo top in 82% of the patient cohorts. Furthermore, in 96% of the cohorts Life Whisperer Genetics ranked the at least one genetically normal embryo in the top two embryos.

Presagen's first product Life Whisperer Viability assesses the same images of embryos to determine their likelihood of leading to a pregnancy, and is already in use in IVF clinics globally.

Founder & President of IVF Life Group, Dr. Jon Aizpurua said "For the next two months, IVF Life will offer all patients, at no additional cost, the use of both Life Whisperer Genetics and Life Whisperer Viability. Although patients may still elect to use PGT-A testing, Life Whisperer offers an important pre-screen to help us select the best embryos for further genetic testing, transfer, or freezing."

Presagen CEO, Dr Michelle Perugini said "We are excited to be working with IVF Life to enable patients across Europe to access the latest AI technology to help improve their chances of a healthy pregnancy, whilst reducing treatment costs."

Life Whisperer is already authorised for sale in the UK, Canada, Australia, Japan, India, Thailand, New Zealand, Hong Kong, Singapore and Malaysia.

SOURCE Presagen

https://www.presagen.com/

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IVF Life the first clinic group in Europe to use Artificial Intelligence to non-invasively assess the genetic integrity of embryos - PRNewswire

A brief analysis of the basic details of Prenatal and Newborn Genetic Testing Market valuation, industry expansion, and market growth opportunities affecting market growth. Likewise, this analysis provides a comprehensive view of technology spending over the forecast period and offers a unique perspective on the Prenatal and Newborn Genetic Testing market in each of the categories included in the survey. The Prenatal and Newborn Genetic Testing Industry Review helps customers assess the challenges and prospects for the company. The investigation includes analyzing the latest keyword business forecast for the relevant period. In addition, the annual industry study contains the latest information on technical developments and market development opportunities depending on the geographic climate. The Prenatal and Newborn Genetic Testing market also includes technology / innovation, a comprehensive outlook on future developments, research and development activities and new products.

Advanced methods are also used to plan the Prenatal and Newborn Genetic Testing industry analysis, as well as the sales and supplier overview of the Prenatal and Newborn Genetic Testing industry. A study of the Prenatal and Newborn Genetic Testing market offers a complete analysis of geographic dynamics, market developments and market shares at the country level of the Prenatal and Newborn Genetic Testing market. A number of key factors were considered during the study, including product definition, market size, product classification, and various ecosystem participants in the Prenatal and Newborn Genetic Testing market.

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The report covers the following key players in the Prenatal and Newborn Genetic Testing Market:

Abbott Laboratories Bio-Rad Laboratories Qiagen N.V. Natera Illuminaxx

Segmentation of Prenatal and Newborn Genetic Testing Market:

This section of the report provides important information on various types of products and service variants available in the Prenatal and Newborn Genetic Testing market, as well as the scope of their futuristic developments and the associated ability to generate revenue. This section of the report clearly focuses on the usefulness of various products and services available in the market and the diverse developments that meet user preferences.

Aerogel Insulation Market, By Type

Silica Carbon Polymer

Aerogel Insulation Market, By End-User

Oil & gas Performance Coatings Building & Construction Aerospace & Marine Automotive sectors

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Prenatal and Newborn Genetic Testing Market Report Scope

Prenatal and Newborn Genetic Testing Geographic Market Analysis:

This research study draws on multiple layers of data including business analysis (industry trends), high-level market share analysis, supply chain analysis, and brief company profiles that together provide and analyze fundamental perspectives on the competitive landscape. High growth business growth trends and segments, high growth countries, market forces, controls, market drivers, market restrictions and drivers, and restraints. This is the most recent study that includes a strategic assessment as well as an in-depth review of the market plans, approaches, brands and manufacturing capabilities of the world's leading industry leaders.

North America (USA, Canada, Mexico) Europe (Great Britain, France, Germany, Spain, Italy, Central and Eastern Europe, CIS) Asia Pacific (China, Japan, South Korea, ASEAN, India, rest of Asia Pacific) Latin America (Brazil, rest of LA) Middle East and Africa (Turkey, CCG, rest of the Middle East)

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This in-depth study also includes a detailed description and interpretation of each chapter of the analysis. In order to give the users of this study a detailed insight into the Prenatal and Newborn Genetic Testing industry, we have provided a comprehensive competitive landscape as well as a product inventory of the most important suppliers in different regions. Each chapter of the review is also defined and interpreted in detail in this systematic report. In order to provide users of this factsheet and a detailed overview of the Prenatal and Newborn Genetic Testing industry, we have created a broad competitive landscape as well as a product summary of the major suppliers in various geographic economies.

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Prenatal and Newborn Genetic Testing Market Size And Forecast 2021-2028 | Top Key Players Abbott Laboratories, Bio-Rad Laboratories, Qiagen NV,...

DNA molecule

KTSDESIGN / SCIENCE PHOTO LIBRARY / Getty Images

The Human Genome project was a huge feat for the scientific community at the turn of the 21st century. Charting our entire human genetic code, giving us the opportunity to predict disease and go on to create personalised drug treatments.

The techniques for personal genetic analysis are now relatively cheap and accurate, which has lead to a host of consumer products. Marketed for our individual health risks, personality types, athletic ability and ancestral roots; some of the common health predictors include breast/bowel cancer, diabetes, cholesterol, Parkinson's and Alzheimer's dementia. They include many rare medical conditions, but can also give you information on your eye colour, susceptibility to caffeine/alcohol/obesity, and even forecast the smell of your urine after eating asparagus (this doesn't happen to everyone).

However, despite providing some interesting insights, this convenient 'crystal ball' into our future selves, could equally offer false reassurance, heightened anxiety and some confusion. For example, would you want to live your life in fear of developing Alzheimer's dementia or Parkinson's without any cure on the horizon?

A pre-requisite to most genetic testing in hospital, is a consultant geneticist or a genetic counsellor to help navigate the complex ethical terrain and often misguided interpretation.

The 'Direct to Consumer' genetic test kits, which can be purchased online, usually rely on a saliva sample sent to the lab. It takes a few weeks before the results are delivered online, with detailed analysis and intriguing information. For those of you interested in carrying this out, I would urge you to consider the pros and cons:

PROS:

CONS:

In summary, It may be more important to focus on leading a healthy lifestyle, regardless of the results. Clean diets, regular exercise, careful weight control and avoiding environmental triggers such as smoking/ UV exposure etc. One of the best ways to identify health needs is to understand your family's medical history of mental and physical conditions.

If you have a positive result and have no clear family history of that condition, it is unlikely that you will suffer from it. Inversely, if you have a negative result, but have a strong family history, you may need to ask your GP for further clinical genetic testing. It would be worth first seeking the advice of a genetic counsellor before embarking on any commercial test.

If you are curious about certain traits such as ability to taste bitterness, your ice cream preference, propensity to get dandruff or back hair, then it is informative and interesting, but for health predictability, the industry seems to be outpacing the science. In the future, with Artificial Intelligence and larger databanks, these test should become more reliable.

Dr Tim Lebens is a private GP in Central London, with a subspecialty in health optimisation and latest advances in medicine. Visit his website drlebens.com or follow him on Instagram @_modernmedicine.Although every effort has been made to ensure that all health advice is accurate and up to date, it is for information purposes only and should not replace a visit to your doctor or health care professional.

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One of London's top doctors weighs up the pros and cons of DIY genetic test kits - Tatler

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Direct-To-Consumer (DTC) Genetic Testing market (2021-2028) current situation and development research possibilities pinpoint to change sharp elements and a point of view on the future of variables ?? or limiting the development of the industry. The Direct-To-Consumer (DTC) Genetic Testing market offers an exhaustive analysis of the market size, participation, degree of development, and Outlook of the Direct-To-Consumer (DTC) Genetic Testing business. This report gives all the fundamental data needed to understand the vital advances in market-to-market spending and the development of Direct-To-Consumer (DTC) Genetic Testing standards for each fragment and locality. The implementation of the action research, the Direct-To-Consumer (DTC) Genetic Testing markets, both in terms of volume and income and this is a factor that is valuable and effective for your business.

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Competitive Landscape

The full profile of the companies is mentioned. And the Direct-To-Consumer (DTC) Genetic Testing Market size, production, price, revenue, cost, terrifying margin, gross, sales volume, sales revenue, consumption, buildup rate, Import, Export, Supply, well along strategies and the technological developments they are making are moreover included in the report. Historical data from 2014 to 2019 and predict data from 2021 to 2028.

Direct-To-Consumer (DTC) Genetic Testing Market Leading Key players:

Market segmentation of Direct-To-Consumer (DTC) Genetic Testing market:

Direct-To-Consumer (DTC) Genetic Testing market is divided by type and application. For the period 2021-2028, cross-segment growth provides accurate calculations and forecasts of sales by Type and Application in terms of volume and value. This analysis can help you grow your business by targeting qualified niche markets.

Direct-To-Consumer (DTC) Genetic Testing Market breakdown by type:

Direct-To-Consumer (DTC) Genetic Testing Market breakdown by application:

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Direct-To-Consumer (DTC) Genetic Testing Market Report Scope

Regional market analysis Direct-To-Consumer (DTC) Genetic Testing can be represented as follows:

For clarity, analysts also segmented the market based on geography. This type of segmentation allows readers to understand the volatile political scenario in different regions and their impact on the global digital Isolator market. The base of geography, the world market of Direct-To-Consumer (DTC) Genetic Testing has segmented as follows:

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The scope of the report consolidates an in-depth examination of the global market Reached 2021-2028 with the apprehension given to the company's progress in specific regions.

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Direct-To-Consumer (DTC) Genetic Testing Market Outlook 2021, Analysis and Forecast to 2028 by Manufacturers| Ancestry, Mapmygenome, Color Genomics,...

Researchers atThe Ohio State University Wexner Medical Centerled an international group of experts that worked together to classify 19 genes associated with dilated cardiomyopathy (DCM) as having high impact on the heart muscle disease.

Researchers believe most of DCM has a genetic background, and at least 30 percent of people with DCM have a family member with the disease. First-degree family members (daughters, sons, brothers, sisters and parents) of a patient with DCM are encouraged to undergo genetic testing for the disease.

However, current genetic testing panels analyze dozens, sometimes hundreds of genes, and they often have limited scientific support, making genetic results clinically difficult to interpret.

When we get results back for a patient with dilated cardiomyopathy, we often see multiple variants in multiple genes. For many genes, we dont know how strongly theyre associated with the condition. By narrowing down the number of genes thought to be disease causing to 19, we can better use genetic information for a diagnosis and give the family a genetic marker to test family members not showing any signs of the disease. Ideally, we can then find who is at risk before they develop DCM, said Elizabeth Jordan, a genetic counselor in the Division of Human Genetics at the Ohio State Wexner Medical Center, and lead author on the study published in the American Heart AssociationsCirculation.

Dilated cardiomyopathy is a condition in which the heart muscle weakens and the left ventricle enlarges. Its the most common cause for patients needing a heart transplant and is responsible for about half of heart failure cases.

For the yearlong study, Stephanie Schulte, head of research and education services at the Health Sciences Library at The Ohio State University, helped develop an initial list of 267 genes after examining various databases. Jordan, along with co-author Laiken Peterson, a genetic counselor atThe Ohio State University College of Medicine, and senior author,Dr. Ray Hershberger, division director of human genetics at the Ohio State Wexner Medical Center and a researcher at theDorothy M.Davis Heart and LungResearch Institute, narrowed the list down to 51, which was evaluated by an international panel of genetic counselors, cardiologists and laboratory scientists.

They used a method developed by the National Institute of Healths Clinical Genome Resource (ClinGen) to determine which genes were most strongly associated with DCM. The research was funded by the NIHs National Human Genome Research Institute and the National Heart, Lung, and Blood Institute.

The researchers evaluated clinical data in humans as well as experimental data in animal models to determine the likelihood that a gene had a role in the disease, Jordan said. Because we often see uncertain genetic results with dilated cardiomyopathy, our hope is that our findings will aid in the interpretation of results of large genetic testing panels, which should help genetic information be more useful in clinical care.

The findings will be extended by research currently being done by the Dilated Cardiomyopathy Consortium, led by Hershberger. In 2015, the NIH awarded $12.4 million to the consortium to study the genetic basis of DCM and lay the foundation for precision medicine for patients.

This was a great example of collaboration with genetic experts across the world. This research, along with additional work being done at The Ohio State University Wexner Medical Center, will provide a better understanding of the role of genetics with DCM and how to treat and prevent it, Hershberger said.

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Ohio State researchers name 19 genes associated with heart muscle disease - The Highland County Press

This article was originally published here

Gynecol Oncol. 2021 May 19:S0090-8258(21)00407-8. doi: 10.1016/j.ygyno.2021.05.011. Online ahead of print.

ABSTRACT

PURPOSE: Several professional organizations recommend universal genetic assessment for people with ovarian cancer as identifying pathogenic variants can affect treatment, prognosis, and all-cause mortality for patients and relatives. We sought to evaluate the literature on genetic assessment for women with ovarian cancer and determine if any interventions or patient characteristics drive utilization of services.

METHODS: We searched key electronic databases to identify trials that evaluated genetic assessment for people with ovarian cancer. Trials with the primary aim to evaluate utilization of genetic assessment with or without interventions were included. Eligible trials were subjected to meta-analysis and the moderating influence of health interventions on rates of genetic assessment were examined.

RESULTS: A total of 35 studies were included (19 report on utilization of genetic services without an intervention, 7 with an intervention, and 9 with both scenarios). Without an intervention, pooled estimates for referral to genetic counseling and completion of genetic testing were 39% [CI 27-53%] and 30% [CI 19-44%]. Clinician-facilitated interventions included: mainstreaming of genetic services (99% [CI 86-100%]), telemedicine (75% [CI 43-93%]), clinic-embedded genetic counselor (76% [CI 32-95%]), reflex tumor somatic genetic assessment (64% [CI 17-94%]), universal testing (57% [28-82%]), and referral forms (26% [CI 10-53%]). Random-effects pooled proportions demonstrated that Black vs. White race was associated with a lower rate of genetic testing (26%[CI 17-38%] vs. 40% [CI 25-57%]) as was being un-insured vs. insured (23% [CI 18-28%] vs. 38% [CI 26-53%]).

CONCLUSIONS: Reported rates of genetic testing for people with ovarian cancer remain well below the goal of universal testing. Interventions such as mainstreaming can improve testing uptake. Strategies aimed at improving utilization of genetic services should consider existing disparities in race and insurance status.

PMID:34023131 | DOI:10.1016/j.ygyno.2021.05.011

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Achieving universal genetic assessment for women with ovarian cancer: Are we there yet? A systematic review and meta-analysis - DocWire News

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Direct Access Genetic Testing market (2021-2028) current situation and development research possibilities pinpoint to change sharp elements and a point of view on the future of variables ?? or limiting the development of the industry. The Direct Access Genetic Testing market offers an exhaustive analysis of the market size, participation, degree of development, and Outlook of the Direct Access Genetic Testing business. This report gives all the fundamental data needed to understand the vital advances in market-to-market spending and the development of Direct Access Genetic Testing standards for each fragment and locality. The implementation of the action research, the Direct Access Genetic Testing markets, both in terms of volume and income and this is a factor that is valuable and effective for your business.

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Direct Access Genetic Testing Market Leading Key players:

Market segmentation of Direct Access Genetic Testing market:

Direct Access Genetic Testing market is divided by type and application. For the period 2021-2028, cross-segment growth provides accurate calculations and forecasts of sales by Type and Application in terms of volume and value. This analysis can help you grow your business by targeting qualified niche markets.

Direct Access Genetic Testing Market breakdown by type:

Direct Access Genetic Testing Market breakdown by application:

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Regional market analysis Direct Access Genetic Testing can be represented as follows:

For clarity, analysts also segmented the market based on geography. This type of segmentation allows readers to understand the volatile political scenario in different regions and their impact on the global digital Isolator market. The base of geography, the world market of Direct Access Genetic Testing has segmented as follows:

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The scope of the report consolidates an in-depth examination of the global market Reached 2021-2028 with the apprehension given to the company's progress in specific regions.

The Best Organizations Hit Market report is intended to provide our buyers with an overview of the most compelling players in the business. In addition, data on the exposure of various organizations, benefits, net benefit, vital activity and more are introduced through different assets.

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Direct Access Genetic Testing Market Outlook 2021, Analysis and Forecast to 2028 by Manufacturers| 23andme, Myheritage, Labcorp, Myriad Genetics,...

Introduction

Gitelman syndrome (GS) is an autosomal recessive inherited disease initially reported in 1996 and is a rare renal tubular disorder with a prevalence of 1:40,000.1,2 GS is closely associated with the mutations of SLC12A3 gene coding for the thiazide-sensitive sodium-chloride cotransporter (NCCT) of the distal convoluted tubule (DCT).3 To date, more than 400 mutations of SLC12A3 have been identified in GS.48 Most of the mutations are missense, splice-site, nonsense, frameshift, deletions, and insertion mutations.9

The main clinical manifestations of GS are hypokalemic metabolic alkalosis, hypomagnesemia, hypocalciuria and renin-angiotensin-aldosterone system (RAAS) activation. Besides, patients with GS may present with spasticity, muscle weakness, paresthesia, numbness, polyuria, and palpitation.10 However, GS lacks specific clinical manifestations and is easily confused with other diseases such as Bartter syndrome, renal tubular acidosis, and primary aldosteronism.11,12 In addition to history taking and clinical work-up, genetic testing is an important and effective tool for diagnosing GS in clinical practice.13 Here, our present study aimed to analyze the clinical features and genetic characteristics of a Chinese female patient with GS.

A 60-year-old female patient was admitted to the Department of Endocrinology in Tongde Hospital of Shanxi province because of recurrent hypokalemia. She had no obvious clinical symptoms such as palpitations, shortness of breath, muscle weakness of the lower limbs, vomiting, nausea, anorexia, diarrhea, polyphagia and emaciation and denied a history of chronic kidney disease. She was treated with potassium citrate or potassium chloride, but she had no history of other drugs such as diuretics, proton pump inhibitors, and anti-tumor agents.

The patient underwent detailed systemic physical examinations. Fasting blood samples and urine samples were obtained. The electrolytes of the blood and urine, plasma angiotensin, plasma renin activity, and plasma aldosterone were analyzed at the central chemistry laboratory of Tongde Hospital of Shanxi province. Besides, ECG, chest X-ray, bone mineral density (BMD) examination and ultrasound examination were conducted.

The diagnosis of Gitelman syndrome was based on the clinical symptoms, biochemical measurements and analysis of genetic mutations of SLC12A3 gene. Genomic DNA was extracted from peripheral blood samples of the female patient using a nucleic acid extraction kit (NO. BST01051, BaiO Technology Co., Ltd, Shanghai, China) according to the manufacturers protocol. The SLC12A3 gene was screened for mutations using Sanger sequencing. The nucleotide sequences of the PCR products were aligned to the UCSC database using SnapGee software (v3.2.1)

Blood pressure, heart rate, and body mass index (BMI) of the patient were 128/70 mmHg, 76 beats per minute, and 26.7 kg/m2, respectively. Systemic physical examinations showed no abnormalities. The results of laboratory tests of the patient are listed in Table 1. Laboratory assays revealed hypokalemia, hypomagnesemia, hypercalcemia, and metabolic alkalosis. Furthermore, the patient had elevated parathyroid hormone (PTH) and plasma renin activity and angiotensin II. 24-h urine analysis showed that the levels of urinary potassium and urinary calcium were normal. ECG revealed normal sinus rhythm, ST segment and T-waves abnormality but had no prolongation of the QT interval. The BMD data showed there was a significant decrease at the left forearm. Chest X-ray and ultrasound (thyroid, carotid, heart, abdomen, and pelvic cavity) did not show any obvious abnormalities (data not shown).

Table 1 Laboratory Tests of the Subject

Sanger sequencing of SLC12A3 gene was performed in the subject. Genetic analysis showed 4 mutations in the exons of SLC12A3 gene: c.366A > G in exon 2, c.791C > G in exon 6, c.1027C > T in exon 8, and c1456G>A in exon 12 (Figure 1).

Figure 1 Genetic analysis of the SLC12A3 gene. (A) c.366A > G in Exon 2. (B) c.791C > G in Exon 6. (C) c.1027C > T in Exon 8 and (D) c.1456 G > A in Exon 12. The mutant nucleotides are marked in the red frames.

After the diagnosis, spironolactone and potassium citrate were used to treat hypokalemia and potassium magnesium aspartate was used to treat hypomagnesaemia. The patient was discharged with normokalemia and no other discomfort following one week of treatment.

In the present study, we reported the case of a 60-year-old Chinese female patient with GS. The biochemical examination showed hypokalemia, metabolic alkalosis, hypomagnesemia, hypercalcemia, hyperreninemia, elevated angiotensin II, and PTH levels. ECG showed normal sinus rhythm, ST segment and T-waves abnormality but had no prolongation of the QT interval. Besides, BMD was decreased in the left forearm. Genetic analysis identified four mutations of SLC12A3 gene, c.366A > G in exon 2, c.791C > G in exon 6, c.1027C > T in exon 7, and c1456G>A in exon 12. The treatment with supplements of potassium and magnesium improved hypokalemia and hypomagnesemia.

GS is a rare inherited salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia, hypocalciuria and RAAS activation. GS is caused by mutations in SLC12A3 gene coding for the thiazide-sensitive NCCT of the DCT, which leads to a decrease in sodium reabsorption, increases potassium and hydrogen excretion and therefore develop hypokalemic metabolic alkalosis.14 The enhanced passive Ca2+ transport in the proximal tubule leads to hypocalciuria15 and the downregulation of the epithelial Mg2+ channel transient receptor potential channel subfamily M, member 6 (Trpm6) is a possible mechanism involved in hypomagnesemia.16 The mechanism of hypocalciuria is uncertain, but some studies have found that one reason for it may be hypovolemia. Meanwhile, hypovolemia activates RAAS.17,18 The patient had hypokalemia, metabolic alkalosis, hypomagnesemia, hyperreninemia, and elevated angiotensin II level, which was consistent with the clinical manifestations of GS. In the study, the elderly female had decreased BMD. Postmenopausal women are prone to develop hypocalcemia and postmenopausal osteoporosis, which is caused by estrogen deficiency after menopause. Long-term hypocalcemia may overstimulate the parathyroid gland and lead to secondary hyperparathyroidism.

Genetic identification is the golden standard for the diagnosis of GS. We identified compound mutations of SLC12A3, c.366A > G in exon 2, c.791C > G in exon 6, c.1027C > T in exon 7, and c1456G>A in exon 12. The c1456G>A in exon 12 is reported as a hotspot mutation of SLC12A3. A heterozygous mutation, c.366A > G in the gene has been reported. But c.366A > G in exon 2 was a homozygous mutation in this study. Moreover, c.791C > G and c.1027C > T are two novel mutations. Hence, we performed a complementary study on the mutations of SLC12A3.

GS and Bartter syndrome (BS) show extremely similar clinical and laboratory manifestations including hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronemia. But BS presents with an early age of onset and exhibits apparent clinical symptoms.12 Simultaneously, BS is closely related to the mutations of CLCNKB gene. They can be differentiated by clinical manifestation and genetic tests.19,20

Our present study has several limitations. First, the mutation was detected in only one patient but not in pedigree. Further research should be performed in the pedigree. Second, a further exploration is needed to find the correlation between genotype and phenotype and then provide better understanding of GS. Moreover, more experiments are needed to reveal the underlying molecular mechanism of GS.

Overall, our study identified four mutations of SLC12A3 gene in a Chinese female patient and three of the mutations were novel. These findings might be useful for better understanding the function of this gene and aid with diagnosis and treatment decisions.

The study was conducted in compliance with the Declaration of Helsinki. The protocol was approved by the Ethics Committee of Tongde Hospital of Shanxi province. The patient provided informed consent for the case details to be published.

All authors contributed to data analysis, drafting or revising the article, have agreed on the journal to which the article will be submitted, gave final approval of the version to be published, and agree to be accountable for all aspects of the work.

This work was supported by grants from the Chinese National Natural Science Foundation [No. 81560044, No. 30860113], the Appropriate Technology for Medical Health Research and Development Projects of Guangxi [S201422-01] and Health Research Project of Shanxi [2019165].

The authors declare that they have no competing interests.

1. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Phys. 1966;79:221235.

2. Knoers NV, Levtchenko EN. Gitelman Syndrome. Orphanet J Rare Dis. 2008;3:22. doi:10.1186/1750-1172-3-22

3. Mastroianni N, Bettinelli A, Bianchetti M, et al. Novel molecular variants of the Na-cl cotransporter gene are responsible for Gitelman syndrome. Am J Hum Genet. 1996;59(5):10191026.

4. Glaudemans B, Yntema HG, San-Cristobal P, et al. Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome. Eur J Hum Genet. 2012;20:263270. doi:10.1038/ejhg.2011.189

5. Ma J, Ren H, Lin L, et al. Genetic features of Chinese patients with Gitelman syndrome: sixteen novel SLC12A3 mutations identified in a new cohort. Am J Nephrol. 2016;44:113121. doi:10.1159/000447366

6. Gug C, Mihaescu A, Mozos I. Two mutations in the thiazide sensitive NaCl co-transporter gene in a Romanian Gitelman syndrome patient: case report. Ther Clin Risk Manag. 2018;14:149155. doi:10.2147/TCRM.S150483

7. Vargas-Poussou R, Dahan K, Kahila D, et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol. 2011;22:693703. doi:10.1681/ASN.2010090907

8. Reissinger A, Ludwig M, Utsch B, et al. Novel NCCT gene mutations as a cause of Gitelmans syndrome and a systematic review of mutant and polymorphic NCCT alleles. Kidney Blood Press Res. 2002;25(6):354362. doi:10.1159/000068695

9. Lu Q, Zhang Y, Song C, et al. A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review. J Endocrinol Investig. 2016;39(3):333340. doi:10.1007/s40618-015-0371-y

10. Munoz EV, Chang Q, Bindels RJ, et al. Gitelman syndrome: towards genotypephenotype correlations. Pediatr Nephrol. 2007;22(3):326332. doi:10.1007/s00467-006-0321-1

11. Fedeli GGC, Cosmai ML, Badalamenti S, et al. Gitelman syndrome: pathophysiological and clinical aspects. Q J Med. 2010;103(10):741748. doi:10.1093/qjmed/hcq123

12. Matsunoshita N, Nozu K, Shono A, et al. Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. Genet Med. 2016;18(2):180188. doi:10.1038/gim.2015.56

13. Blanchard A, Bockenhauer D, Bolignano D, et al. Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO)controversies conference. Kidney Int. 2017;91:2433. doi:10.1016/j.kint.2016.09.046

14. Gvercin B, Kaynar K, Gler , et al. In the presence of hypokalemia and hypomagnesemia; remember Gitelman syndrome. Hippokratia. 2019;23.

15. Reilly RF, Huang CL. The mechanism of hypocalciuria with NaCl cotransporter inhibition. Nat Rev Nephrol. 2011;7:669674. doi:10.1038/nrneph.2011.138

16. Shahzad MA, Mukhtar M, Ahmed A, et al. Gitelman Syndrome: a rare cause of seizure disorder and a systematic review. Case Rep Med. 2019;2019:4204907. doi:10.1155/2019/4204907

17. Tseng MH, Yang SS, Hsu YJ, et al. Genotype, phenotype, and follow-up in Taiwanese patients with salt-losing tubulopathy associated with SLC12A3 mutation. J Clin Endocrinol Metab. 2012;97(8):E14781482. doi:10.1210/jc.2012-1707

18. Hsu YJ, Yang SS, Cheng CJ, et al. Thiazide-sensitive Na+cl Cotransporter (NCC) gene inactivation results in increased duodenal Ca2+ absorption,enhanced osteoblast differentiation and elevated bone mineral density. J Bone Miner Res. 2015;30(1):116127. doi:10.1002/jbmr.2306

19. Simon DB, Karet FE, Hamdan JM, et al. Bartters syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet. 1996;13(2):183188. doi:10.1038/ng0696-183

20. Shaer AJ. Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes. Am J Med Sci. 2001;322(6):316332. doi:10.1097/00000441-200112000-00004

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Homozygous Mutations of SLC12A3 gene in Gitelman Syndrome | IJGM - Dove Medical Press

Diet advice changes with the decades. I remember eating cheeseless pizzas during the "fat-free" fad (thanks, Dad). And I'll never forget my high school cross country team's T-shirts saying "Eat Pasta, Run Fasta."

If we've learned anything from these fads, it isn't how to eat better. It is that there is no one-size-fits-all diet.

Now, a growing field called "nutrigenomics" aims to provide people with personalized lifestyle guidance, based on their DNA. But is this a breakthrough for nutrition science, or just another fad?

Melina Jampolis is a board-certified physician and nutrition specialist. She helps people reach their goals for fitness and body composition by giving tailor-made diet recommendations.

"Nutrition is all about context. We don't eat nutrients, we eat foods."

A few years ago, a 32-year-old vegetarian man came to her seeking advice on how to build muscle and burn fat.

After four months without progress, Jampolis suggested a Nutrigenomix test. Nutrigenomix is one of several dozen companies that offer genetic tests that purport to give insight into personalized, gene-based nutrition.

Much like 23andMe or Ancestry.com, by sending salvia to a lab, people can learn more about their genetic makeup. Some of the gene-based nutrition companies accomplish this by interpreting genetic data downloaded from 23andMe or Ancestry.

The analysis a subject receives is intended to help them learn which foods to eat to switch on or off specific genes. It can help them understand what foods might affect weight loss, immune functions, or their predispositions to disease.

Jampolis says the test results "confirmed her clinical intuition." Even though a plant-based diet is a healthy option, vegetarianism wasn't quite right for this man.

According to the test results, her client had a variation in his genetic sequence making it more challenging to build muscle. At the same time, his metabolic panel indicated that he should have fewer carbohydrates. With that combined information, Jampolis recommended that he eat less protein from beans and more animal protein.

For Jampolis, despite some of the companies' claims, the genetic test isn't a magic "how to eat" formula. She says there are many ways to interpret the results, so it is best used with a healthcare professional's guidance.

"As a practitioner, you're taking (a genetic test) in the context of a patient and bringing in multiple variables," she says.

Nutrigenomix is one of the few nutrigenomics tests that must be administered by a medical professional. The founder, Ahmed El-Sohemy, specifically designed it that way to "restore credibility to the field."

El-Sohemy, also the nutrigenomics chair of the University of Toronto, says nutrition can be "vulnerable to snake oil science," and consumers should be cautious about genetic testing.

"It was a bit of a wild west. There were some shady operators (...) linking their tests to ridiculously overpriced supplements that were not justified. It was really tainting the whole field. So, we established a test based on the robust science and decided to make it available only through healthcare professionals so that they can answer questions and concerns that people have around genetic testing."

In 2008, El-Sohemy discovered that some people's genetics could be causing them to eat more sugar regularly than others. He pinpointed the sugar habit to a variation in the GLUT2 gene which became known as the "sweet tooth gene."

But El-Sohemy saw nutrigenomics companies extrapolate new meanings from his work claiming their test for the sweet tooth gene would reveal how a body processes sugar and the optimal sugar intake level.

"That's nonsense. That's not what the study showed," he says, adding other examples of wild claims like genetic tests "for" an anti-inflammatory diet, or low-carb versus low-fat, where "the science just isn't there yet."

Nonetheless, he does believe the field is making progress. When he first launched the Nutrigenomix in 2012, their test only looked at seven genes. By 2018, they were investigating 72.

In the past decade, more rigorous scientific research has been published with discoveries related to nutrigenomics. If "the science isn't there yet," when it comes to crafting personal diets from data, it is on its way.

David Mutch leads a nutrigenomics research program at the University of Guelph, studying diet-gene interactions, especially omega-3 dietary fats. He doesn't work with El-Sohemy but cites his 2006 study on coffee and heart attack risk as a prime example of robust nutrition science.

The study looked at a variant of the gene CYP182, which is associated with how well the body metabolizes caffeine. They found that having a particular version of the gene means that the body metabolizes caffeine slowly, and for this group, excessive coffee consumption may increase their risk of heart attacks.

Studies like this, Mutch says, are building a solid foundation for consumer nutrigenomics tests. If a person tests positive for that gene variant, then the recommendation would be to consume no more than two cups of coffee per day instead of the standard advice of a four-cup limit.

Mutch says that precision nutrition is about much more than DNA. It also takes into account gut bacteria (known as the microbiome), proteins, metabolites, etc. That is why he also supports nutrigenomics tests that are interpreted by a healthcare professional.

"Working with dieticians or healthcare practitioners is actually going to be the most efficient way to take that information you're getting and translate it into an actionable dietary plan. That's the challenge with nutrition. Nutrition is all about context. We don't eat nutrients, we eat foods."

The majority of chronic illnesses in the United States, such as hypertension, high cholesterol, obesity, and diabetes, are treated first with diet and exercise. However, research shows that patients are more likely to adhere to care plans tailored to their genetics instead of general dietary advice.

"This is a piece of the puzzle to better understand ourselves, to better understand what we may or may not want to think about when we're making choices about the foods we're eating or the lifestyle choices we're making," Mutch says.

Maybe someday, to reduce the risk of heart disease, Alzheimer's, or hypertension, doctors will prescribe food as medicine and know their prescription will stand the tests of time and science.

We'd love to hear from you! If you have a comment about this article or if you have a tip for a future Freethink story, please email us at [emailprotected]

More here:
Nutrigenomics Could Be the Future of Eating - Freethink

A clerical error meant that a female polar bear, Tonja, born at Moscow Zoo, was listed as the daughter of the wrong parents, a spokeswoman for Tierpark Berlin told CNN on Wednesday.

Tonja was assigned documents meant for another female polar bear born at Moscow Zoo two days later, but in fact she was the offspring of the same parents as Wolodja, a male polar bear with whom she later mated in Berlin. The pair produced baby Hertha, who was born in December 2018.

Suspicions were raised when documents were found at Moscow Zoo that listed a different birth date for Tonja, and genetic testing has since confirmed she and Wolodja are siblings.

"That was a big shock for us," the spokeswoman said, adding that Moscow Zoo had been very transparent and informed its counterparts in Berlin when the documents were found.

"There was one unfortunate mistake," she said.

The bears are part of the European Endangered Species Programmes (EEP) breeding program for polar bears, which works to maintain the genetic diversity of polar bears in captivity.

Inbreeding reduces genetic diversity, which is "a crucial factor in the long-term survival of species," according to the European Association of Zoos and Aquaria (EAZA).

"This serious mistake is a very regrettable setback for the responsible work of the European Conservation Breeding Programme," Berlin Zoo's director, Andreas Knieriem, said in a statement.

"It must now be a matter of learning from such mistakes and putting our work in all areas even more on a scientific basis."

This kind of mix-up is not likely to happen again, as it is unlikely there will be two breeding pairs at the same zoo, the spokeswoman said. In addition, every animal born at Berlin Zoo is given a microchip containing identifying information, including who its parents are.

In the light of the discovery, neither Tonja nor Hertha will have any offspring for the foreseeable future because their family lineage is better represented in the captive polar bear population than previously thought, the spokeswoman said.

However, there is a chance that both bears will be bred in the future, she added.

"Our mission is to keep the genetic diversity as big as possible," said the spokeswoman.

Hertha is a "happy and healthy bear" who will remain at the zoo along with her mother, she added. Wolodja has already moved to a different zoo in the Netherlands.

Polar bears are listed as vulnerable by the International Union for Conservation of Nature (IUCN), which estimates that there are 22,000-31,000 left in the wild.

UK campaign organization Bear Conservation estimates that there are more than 300 polar bears in captivity around the world.

Read more from the original source:
Berlin zoo says its polar bear cub's parents were brother and sister - CNN

Potentially clinically actionable genomic alterations were identified in a majority of patients with advanced cancers with next-generation sequencing (NGS), a subcohort of whom showed clinical benefits with targeted treatment directed by the NGS. The results of the prospective study were published in JAMA Oncology.1

In their assessment of the Michigan Oncology Sequencing Program (Mi-ONCOSEQ) cohort study, investigators looked at the use of NGS in 1138 patients with advanced solid tumors, which was successful in 89.2% (n=1015). Of the NGS-successful patients, 817 (80.5%) were discovered to have actionable genomic alterations for treatment, with 132 (16.2%) receiving targeted therapy based on these results. Forty-nine patients had a clinical benefit from the targeted treatment, and responses lasted 12 months or longer in 19.7% of the treated population. These results support the use of directed germline testing in all patients with advanced cancer.

One goal for Mi-ONCOSEQ is to inform standards of practice as clinical sequencing increasingly becomes adopted as a routine standard of care, said Arul Chinnaiyan, MD, PhD, director of the Michigan Center for Translational Pathology and senior author of the study, in an article in the Michigan Health Lab report.2 This study helps demonstrate that the promise of individualized, precision medicine and precision oncology is becoming a reality for patients.

Observed molecular alterations were classified into 3 tiers, depending on the potential for treatment or potential treatment resistance based on the alteration. Tier 1 alterations included those with known clinical utility, germline variants that lead to increased cancer risk, and alterations that mark more or less benefit from an FDA-approved treatment. Tier 2 alterations included alterations that would suggest benefit from investigational or off-label targeted therapy or that would suggest resistance to an FDA-approved therapy. Tier 3 alterations were those without current therapeutic implications.

According to the investigators, 817 patients (80.5%) harbored a potentially actionable tier 1 or 2 alteration, 288 patients had tier 1 alterations, and 744 had tier 2 alterations. Among these alterations, 962 (94.8%) were identified by DNA sequencing and 645 (63.5%) by RNA sequencing. In 579 cases (57.0%), all 3 modes of integrated sequencing and analysis found informative alterations for potential treatment.

Sequencing-directed therapy (SDT) was started in 132 of the 817 patients (16.2%) with potentially clinically actionable alterations, with the median time to enrollment in the treatment being 3.8 months (range, 0.2-44.0). Seventy-four patients were enrolled and treated in a clinical trial, 43 were treated with off-label therapy, and 15 were treated with on-label therapy. Forty-nine patients (37.1%) experienced clinical benefit after being matched with treatment, with the most common cancers treated being sarcoma (12 of 138 [8.7%]) and prostate adenocarcinoma (10 of 154 [6.5%]).

Treatments for patients receiving SDT included targeted CDK4/6 inhibitors (n=21), PARP inhibitors (n =16), and FGFR inhibitors (n =11). The most common treatment received was immune checkpoint inhibitors, in 29 patients. The 26 patients who were deemed to have an exceptional response to SDT had a response duration ranging from 12.1 to 39.5 months. Ten of the patients had DNA repair defects, 5 of whom had double-strand DNA repair defects, including BRCA1, BRCA2, ATM, PALB2, and BRIP1.

Any family members who have also inherited those same mutations may be at increased risk for cancer, added Erin F. Cobain, MD, a coauthor in the study and a clinical lecturer and oncologist at Michigan Medicine, in a statement.2 So a lot of this testing prompted downstream genetic testing and counseling across families. Thats how sequencing can have even more far-reaching impact than just looking for therapies to directly help a current patient.

Several factors accounted for NGS testing not being successful in some patients, including the inability to safely test, patients withdrawal due to entering hospice, and inadequate tumor content from the biopsy. The average age of patients who enrolled was 57 years; 53% were men. Prior to enrollment, 855 patients had received systemic therapy and an average of 47 months had elapsed between the time of the patients diagnosis and their enrollment in the study.

Based on the data presented by Cobain and others, it is evident that such precision medicine strategies are especially fruitful in cancer types without clear standard-of-care options, such as carcinoma of unknown primary and other rare tumors, investigators wrote in an editorial accompanying the study, discussing the benefits of NGS for patients with rare cancers.3

NGS remains a challenge for oncologists for several reasons, among them that the definition of clinically actionable alterations changes as new therapies emerge and that a patients tumors can harbor multiple mutations. According to the investigators, more novel clinical trials need to be explored to expand treatment. However, systems also must develop large-scale precision oncology studies to continue to find ways to match patients with targeted treatments.

Our data support a recommendation for germline testing of DNA repair genes as standard practice in patients with metastatic solid tumors and comprehensive NGS profiling at diagnosis for patients with [cancer of unknown primary], the study authors concluded.1 With continued discovery of genomic biomarkers predictive of clinical benefit from anticancer therapies, we anticipate even broader clinical applicability of this technology.

References:

1. Cobain EF, Wu YM, Vats P, et al. Assessment of clinical benefit of integrative genomic profiling in advanced solid tumors. JAMA Oncol. 2021;7(4):525-533. doi:10.1001/jamaoncol.2020.7987

2. Demsky I. How useful is next-generation sequencing for patients with advanced cancer? Michigan Health Lab. March 11, 2021. Accessed March 23, 2021. https://bit.ly/3cjajLT

3. Yap TA, Johnson A, Meric-Bernstam F. Precision medicine in oncologytoward the integrated targeting of somatic and germline genomic aberrations. JAMA Oncol. 2021;7(4):507-509. doi:10.1001/jamaoncol.2020.7988

See the article here:
Large NGS Trial Identifies Actionable Alterations in Most Patients With Advanced Cancers - Targeted Oncology

This has brought along several changes in This report also covers the impact of COVID-19 on the global market.

The Breast Cancer Predictive Genetic Testing Market analysis summary by Reports Insights is a thorough study of the current trends leading to this vertical trend in various regions. In addition, this study emphasizes thorough competition analysis on market prospects, especially growth strategies that market experts claim.

Breast Cancer Predictive Genetic Testing Market competition by top manufacturers as follow: OncoCyte Corporation, Cancer Genetics, Myriad Genetics, Iverson Genetics, NeoGenomics, Roche, Quest Diagnostics, PerkinElmer, Invitae, Thermo Fisher Scientific

Get a Sample PDF copy of the report @ https://www.reportsinsights.com/sample/415404

The global Breast Cancer Predictive Genetic Testing market has been segmented on the basis of technology, product type, application, distribution channel, end-user, and industry vertical, along with the geography, delivering valuable insights.

The Type Coverage in the Market are: High Penetrant GenesIntermediate Penetrant GenesLow Penetrant Genes

Market Segment by Applications, covers:

HospitalsClinicsOther

Market Segment as follows:By RegionAsia-Pacific[China, Southeast Asia, India, Japan, Korea, Western Asia]Europe[Germany, UK, France, Italy, Russia, Spain, Netherlands, Turkey, Switzerland]North America[United States, Canada, Mexico]Middle East & Africa[GCC, North Africa, South Africa]South America[Brazil, Argentina, Columbia, Chile, Peru]

The research provides answers to the following key questions: What is the estimated growth rate and market share and size of the Breast Cancer Predictive Genetic Testing market for the forecast period 2021 2028? What are the driving forces in the Breast Cancer Predictive Genetic Testing market for the forecast period 2021 2028? Who are the prominent market players and how have they gained a competitive edge over other competitors? What are the market trends influencing the progress of the Breast Cancer Predictive Genetic Testing industry worldwide? What are the major challenges and threats restricting the progress of the industry? What opportunities does the market hold for the prominent market players?

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Market segment by Regions/Countries, this report coversNorth AmericaEuropeChinaRest of Asia PacificCentral & South AmericaMiddle East & Africa

Major factors covered in the report:

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Market share assessments for the regional and country level segments. Market share analysis of the top industry players. Strategic recommendations for the new entrants. Market forecasts for a minimum of 9 years of all the mentioned segments, sub segments and the regional markets. Market Trends (Drivers, Constraints, Opportunities, Threats, Challenges, Investment Opportunities, and recommendations). Strategic recommendations in key business segments based on the market estimations. Competitive landscaping mapping the key common trends. Company profiling with detailed strategies, financials, and recent developments. Supply chain trends mapping the latest technological advancements.

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Breast Cancer Predictive Genetic Testing Market 2021 In-Depth Insights and Business Scenario, Analysis by 2028 Brockville Observer - Brockville...

VANCOUVER, Wash.--(BUSINESS WIRE)--Wisdom Health Genetics, the world leader in pet genetics and maker of the WISDOM PANEL dog DNA test, announced the publication of two studies in Human Genetics conducted in partnership with the University of Helsinki.

Both studies discovered genetic variants related to disease in dog breeds of Finnish origin: the first study identifies a variant associated with an endocrine disease in Karelian Bear Dogs, and the second identifies a variant associated with an eye disease in Lapponian Herders.

By analyzing genetic samples including those from the Wisdom Health Genetics database, our researchers and Professor Hannes Lohis team at the University of Helsinki were able to identify genetic variants associated with two inherited diseases found in Finnish dog breeds, said Jonas Donner, Ph.D., Discovery Manager at Wisdom Health Genetics. We are thrilled that we could aid in these discoveries, both of which have practical implications for humans and dogs. These findings will inform the development of genetic tests for the conditions, thus improving veterinary diagnostics and breeding plans, and also help further our understanding of similar conditions in humans.

The first study, Intronic variant in POU1F1 associated with canine pituitary dwarfism, established a novel canine model for endocrine dysfunction known as combined pituitary hormone deficiency (CPHD). Through a combination of genome-wide association and next-generation sequencing studies, researchers identified a candidate gene (POU1F1) containing a disease-predisposing genetic variant present in the dogs with CPHD.

Thirty genes, many of which are regulatory genes affecting pituitary development, have been linked to human hereditary hypopituitarism. Impairment occurs not only in humans but also in mice and dogs. This is only the second and thus very important new dog model for human pituitary disease, said Professor Lohi about the discovery in the Universitys news release about the CPHD publication.

In a second study, A missense variant in IFT122 associated with a canine model of retinitis pigmentosa, researchers identified a recessive genetic variant (IFT122) as the likely cause of progressive retinal atrophy (PRA) in Lapponian Herders. The IFT122 gene has not previously been linked to retinal degeneration in mammals, thus establishing a new model to examine the role of IFT122 in degenerative eye diseases in both humans and dogs alike.

Gene discovery is important because genetic testing can now easily distinguish retinal degenerations associated with different genes in breeds, which is important for disease monitoring, prognosis, and the development of new therapies, said Maria Kaukonen, DVM, in the Universitys news release announcing the PRA publication. Diagnostics will improve and it will make the work of veterinarians easier.

The discoveries of both studies will contribute to the development of targeted genetic screening for dogs like those found in Wisdom Panel tests to improve breeding practices and personalized veterinary care.

Additionally, both discoveries hold promise for advancing human medicine thanks to the novel clues about disease gene biology they provide, and the newly characterized canine models enabling further studies of the conditions.

About the combined pituitary hormone deficiency (CPHD) study:

About the canine model of retinitis pigmentosa (RP) study:

About Wisdom Health Genetics

The mission of the Wisdom Health business, a division of Kinship Partners, Inc, is to strengthen the bond between pets and their people through world-leading insights powered by DNA. Wisdom Panel dog DNA testsbacked by WISDOM HEALTH scientific researchcan help pet parents plan better, care smarter, and love longer. For more than a decade, Wisdom Health scientific research has contributed to state-of-the-art genetic tests for companion animals, revolutionizing personalized pet care. By unlocking the secrets of their dog or cat's DNA, pet parents and veterinarians can work together to tailor wellness programs that fit the one-of-a-kind needs of their pets. More than 7,000 veterinarians worldwide recommend and offer Wisdom Panel products. For more information, visit http://www.wisdompanel.com, and follow the Wisdom Panel brand on Facebook and Instagram.

About Kinship Partners, Inc

Kinship is here to help everyone pet parent like a pro. Why? Because our pets make us better humans, and we owe them the best possible care. As allies to pet parents learning on the job, we use our data, products, and services to help people be the best pet parents they can be. We unite changemakers in pet care to break down barriers, open new doors, share insights, and advance our collective knowledge. By reimagining the pet parenting experience and upping peoples confidence, were helping the world find better ways to care.

Our coalition includes our world-leading Wisdom Panel genetic health screening and DNA testing for dogs, the award-winning WHISTLE GPS dog tracker and health monitor, Pet Insight Project, our ground-breaking science stream that uses AI to turn billions of data points into actionable insights, and partnerships like our Leap Venture Studio accelerator that supports innovators and start-ups, to bring new solutions to pet parents. Kinship is a division of Mars Petcare. Learn more at http://www.kinship.co.

About Mars Petcare

Part of Mars, Incorporateda family-owned business with more than a century of history-making diverse products and offering services for people and the pets people lovethe 85,000 Associates across 50+ countries in Mars Petcare are dedicated to one purpose: A BETTER WORLD FOR PETS. With 85 years of experience, our portfolio of almost 50 brands serves the health and nutrition needs of the worlds petsincluding brands PEDIGREE, WHISKAS, ROYAL CANIN, NUTRO, GREENIES, SHEBA, CESAR, IAMS, and EUKANUBA, as well as the Waltham Petcare Science Institute, which has advanced research in the nutrition and health of pets for over 50 years. Mars Petcare is also a leading veterinary health provider through an international network of over 2,000 pet hospitals and diagnostic services including BANFIELD, BLUEPEARL, VCA, Linnaeus, AniCura, and Antech. Were also active in innovation and technology for pets, with Wisdom Panel genetic health screening and DNA testing for dogs, the WHISTLE GPS dog tracker, LEAP VENTURE STUDIO accelerator, and COMPANION FUND programs that drive innovation and disruption in the pet care industry. As a family business guided by our principles, we are privileged with the flexibility to fight for what we believe inand we choose to fight for our purpose: A BETTER WORLD FOR PETS.

Excerpt from:
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In examining the proportion of patients in the Caribbean with breast or ovarian cancers who carry actionable pathogenic variants, a unique landscape of genetic mutations was uncovered across 7 island nations, according to Sophia George, PhD, and Judith E. Hurley, MD.

We started off in the Bahamas, but we ended up in Haiti, Jamaica, Barbados, Trinidad and Tobago, Dominica, and the Cayman Islands, Hurley said. What we realized was that each island is very unique and very individual, even in the types of breast cancer and the genetic mutations that are found. This is important in the Caribbean, but it is also really important here, in the United States. When you emigrate to another country, you bring your genes with you; [approximately] 1 in 10 immigrants in the United States are from the Caribbean, so this is a big issue that needs to be recognized.

In an interview with OncLive, George, a research assistant professor at Sylvester Comprehensive Cancer Center of the University of Miami Health System, and Hurley, an oncologist at Jackson Memorial Hospital, discussed the importance of the genetic association study, challenges faced with launching such an effort, the key findings from the research, and the clinical implications of the data in the Caribbean as well as the United States.

Hurley: We both live and work in Miami, [which] is really, geographically, part of the Caribbean.It all started with a clinical observation that the Bahamian patients with breast cancer that I saw in my clinic at the University of Miami in the Jackson Memorial Hospital were very young. This led me to ask, 'Well, why is that?'

We discovered that Bahamian women had a very high incidence of inherited breast cancer. When we started to speak with other oncologists in the Caribbean, they said, 'The same thing that is happening in the Bahamas, is happening on my island. Why don't you come to my island? We basically [focused on] 7 islands in the Caribbean and spent many years accruing patients to the study.

George: For me, as a person from the Caribbean, clearly my interest was a bit self-serving. Also, at the time, I was studying hereditary ovarian cancer. I learned about the initial BRCA testing in the Bahamas through a colleague [who was also] in the Bahamas while I was there. This led to me reaching out to Dr Hurley, where I asked her about the other islands, and [she told me] that we were actually going to [look at] the others.

Hurley: The black woman that you are seeing in your practice with a new diagnosis of breast cancer could easily be from the Caribbean, and you do not even know it or have not [considered] it. [Also, perhaps] you do not realize that she [may have] a very high rate of inherited breast cancer. For example, we found that 24% of women in the Bahamas who had breast cancer had a deleterious mutation, which is the highest rate in the world. Before that, it was the Ashkenazi Jewish women, at 12%. This changed the way that Bahamian women are treated in the Bahamas and how they are screened. It should change the way that your patients who are Bahamian are screened for breast cancer.

George: The objective was really straightforward. [We wanted to identify] the prevalence of inherited breast cancer and ovarian cancer in the Caribbean. It really stemmed from observations in the clinic that young black woman from the Caribbean, at that point, were being diagnosed with triple-negative breast cancer, advanced stage [disease], and often with a family history, when probed. [Due to the fact that] we knew about what was happening in the Bahamas, we wanted to know [whether we would see] the same [thing across] all the islands. That is why we included different populations of Caribbean women in this particular study.

Hurley: We ended up gathering a lot of collateral information, like their fertility factors, family histories, how their breast cancer was diagnosed, and what stage their breast cancer was. Although our primary goal was to look at inherited risk, we collected a lot of other data that showed us that over 90% of the women in the Caribbean who were diagnosed with breast cancer were diagnosed because they felt the mass themselves.

[Knowing this] really changes the way that you need to deal with the epidemic of breast cancer in the Caribbean. Breast cancer is a leading cause of cancer death in Caribbean women. [About] 40 million people [reside] in the Caribbean, so you are talking about a population of [approximately] 20 million women; it is a significant population.

George: [Due to the fact] we were looking at germline DNA, we decided to collect saliva DNA from consenting study participants instead of blood because it was easier to manage, easier to transport, and also was more acceptable for the population. Initially, in the study, we looked at BRCA1 and BRCA2 [mutations] across the participants. As the study progressed, it became cheaper to do more panel testing. Initially, it was BRCA1/2 next-generation sequencing with multiplex ligation-dependent probe amplification; then, we included PALB2 and RAD51C. We then did the panel test in a larger cohort of women.

Hurley: The technology really evolved over the course of the study. When we first started, the BRCA1 and BRCA2 tests costed $3500 to test 1 person. By the time we were done, we could do 40 genes for $199. The improvement in technology over the course of this study did not change results that much. Once we went back, and panel tested everyone, we did not find a single Lynch mutation in over 1000 patients; that was kind of surprising. Presumably, there is Lynch syndrome in the Caribbean, but it does not appear to manifest as breast cancer. We were expecting to pick up a few [cases of] Lynch [syndrome] that we had not known about, but we did not.

Hurley: Although many countries in the Caribbean do not have tumor registries, the countries that do, [such as] Trinidad and Tobago and Jamaica, will show you that the average age of their patients is relatively young compared with the United States population. The average patient from the United States who has breast cancer is a white woman who is 62 years of age; in Trinidad, it is a 50-year-old black woman; and in Jamaica, it is a 49-year-old black woman. All very different pictures. Breast cancer is postmenopausal in the United States, and it is premenopausal in the Caribbean.

We also looked at the body mass index of our patients, which was high. We looked at parity, age of menopause and menarche, and other fertility factors. Interestingly, [when looking at] known people who were alive [over the course of the study], the grandmothers vs the mothers vs the daughters, [we saw that] family size markedly decreased and the age of first pregnancy markedly increasedall of this epidemiologically impacts breast cancer risk.

[We have seen] a transition from a third-world fertility pattern to a first-world fertility pattern during the course of our lives, which is fascinating. There has also been a major change in diet patterns during that exact same period of time. All these [factors] impact breast cancer risk, so it may be that as the Caribbean has gone from being a relatively third-world area to being a first-world area, [some good has come out of it] but also some bad, like an increased risk of breast cancer, which is impacting their survivorship and their health systems.

George: About 14% to 14.2% of participants who were on the study had a germline pathogenic mutation variant in BRCA1/2, PALB2, and, very rarely, in RAD51C, NBN, STK11, TP53, and CHEK2. One in 7 people who were in our study had a germline variant, [which] is very high. Secondly, the majority of people in the Caribbean are of African descent, but we also have a mixed population of Middle Eastern, European, Chinese, and Southeast Asian [individuals]. As a result, we also have a very mixed population that we saw play out in the types of mutations that we [observed].

We did not see the [same] mutations across the entire region. What we saw was that each country essentially had their own spectrum of mutations. This led to us believe that unlike with the Ashkenazi Jewish population where you have 3 [kinds] of mutations, for the purposes of doing genetic testing in a Caribbean population, you would want to offer panel testing across genes and for multiple geneseven the rare [ones].

Hurley: [To reiterate what Dr George said], each island has a very individual profile. We started at the Bahamas and were nave enough to think thatback before panel testing was [accessible]we could just get the mutations from the Bahamas and make a panel from that. [We felt] it would be cheaper than $3500, and [that we could] apply it across the Caribbean. [However], that was a complete failure because each island has different mutations.

Fortunately, technology rescued us: Broad panel testing became available and financially feasible. You could not extrapolate from 1 island to the other [to determine what] the mutations were going to be. You could not extrapolate what the frequency [of those mutations] was going to [to look like]; it was completely unique. For example, we saw a very high incidence of PALB2 in Barbados and Jamaica, but nowhere else. In Barbados, [the incidence of this mutation] was [approximately] 4.4%, while in Jamaica it was 2.2%. These are very high rates of PALB2; we do not see those kinds of rates in any population. In the Bahamas, 28% [of individuals] had a germline mutation vs 11.7% in Trinidad and Tobago, and [approximately] 17.4% in Barbados.

Each island was totally unique because of the mix of people who [live there]. At the beginning of the study, we used to ask people about their racial and ethnic background. We would [ask], How do you describe yourself? Often, in the Bahamas, they would say, It is a conch salad. You take a little of this, a little of that, and throw it all in. That is what I am.

That is kind of what the Caribbean is. You have this very broad, diverse mixture of backgrounds with the [indigenous] population, Southeast Asia, China, Middle East, Northern Europe, Southern Europe, Western Africa, and a little bit Eastern Africa. A lot of different contributions [to make up an individual profile].

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