Archive for the ‘Genetic Testing’ Category
Global Genetic Testing Markets Forecasts, Applications and Technologies Research Report 2022 – ResearchAndMarkets.com – Galveston County Daily News
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Global Genetic Testing Markets Forecasts, Applications and Technologies Research Report 2022 - ResearchAndMarkets.com - Galveston County Daily News
Genetic variation common among Black individuals is associated with higher risk of heart failure and death – University of Alabama at Birmingham
The UAB Cardiogenomics Clinic provides genetic testing and counseling for a gene variant associated with a risk of heart failure and death.
Researchers believe that the presence of the Val122Ile genetic variant in African Americans is believed to predispose them to the development of transthyretin amyloidosis, which can lead to higher risk of heart failure.A new study published in the Journal of the American Medical Association led by researchers from the University of Alabama at Birmingham Marnix E. Heersink School of Medicine found that being a carrier of a genetic variation known as Val122Ile in the transthyretin, or TTR gene, was significantly associated with an increased risk of heart failure and death. Research shows that this Val122Ile variation is more commonly seen among individuals of African ancestry.
Transthyretin protein is produced by the liver and helps circulate vitamin A and thyroxine through the body. This genetic variation causes misfolding of the transthyretin protein leading to hereditary transthyretin amyloidosis, a condition characterized by the buildup of abnormal deposits of a protein in the bodys organs and tissues. As buildup increases over time, the heart may become stiff, leading to cardiomyopathy, a disease of the heart muscle that makes it difficult to pump blood through the heart.
For this study, UAB researchers Vibhu Parcha, M.D., and Pankaj Arora, M.D., looked at this genetic variation in a cohort of 7,500 Black individuals living in the United States.
The TTR Val122Ile genetic variant is unfortunately more common among those of African ancestry with nearly three out of 100 individuals carrying the genetic variation, said Parcha, a clinical research fellow in the UAB Cardiogenomics Clinic and the UAB Division of Cardiovascular Disease.
Parcha says the presence of the Val122Ile genetic variant in African Americans is believed to predispose them to the development of transthyretin amyloidosis.
We wanted to examine whether carrying this genetic variant will lead to a higher risk of new-onset heart failure, death due to heart failure, cardiovascular causes or any other causes, Parcha said.
(Left) Vibhu Parcha, M.D., clinical research fellow in the UAB Cardiogenomics Clinic and the UAB Division of Cardiovascular Disease. (Right) Pankaj Arora, M.D., an associate professor in the Division of Cardiovascular Disease and director of the UAB Cardiogenomics Clinic.In this study, researchers analyzed participants from the REasons for Geographic and Racial Differences in Stroke study living in the United States without baseline heart failure. Among 7,514 Black participants, the population frequency of the TTR Val122Ile variant was 3.1 percent. Over a median follow-up of 10.9 years, Val122Ile variant carriers had a higher risk of incident heart failure compared with non-carriers. Over a median follow-up of 11.6 years, Val122Ile variant carriers had a higher risk of mortality compared with non-carriers. Overall researchers found that those with the TTR Val122Ile variant had a 2.5-fold higher risk of heart failure and a 40 percent higher risk of death from any reason.
Among those with the pathogenic TTR Val122Ile genetic variation, the heart may gradually become unable to function correctly, which will lead to heart failure and ultimately death, said Arora, an associate professor in the Division of Cardiovascular Disease and director of the UAB Cardiogenomics Clinic. However, the true probability of genetic variation being expressed in all those with the variant is not known, and further work is needed to understand this. The good news is that there are several new treatments approved or awaiting approval for this hereditary heart disease.
Medical facilities like the UAB Cardiogenomics Clinic provide genetic testing for this variant. At the clinic, those who carry this variant will have access to comprehensive genetic counseling and assessment of their heart structure and function.
Those with the variant may be eligible for getting access to evidence-based therapies that improve their heart health and improve their long-term outcomes, Arora said. It is also important to identify any family members who may have the genetic variation as they will benefit from early diagnosis and access to medical therapies that improve their health.
Learn more about the UAB Cardiogenomics Clinic here.
Direct-to-Consumer (DTC) Genetic Testing Market Trends Analysis, Top Manufacturers, Shares, Growth Opportunities, Statistics and Forecast by 2028 …
This Direct-to-Consumer (DTC) Genetic Testing Market report provides a comprehensive overview of important aspects that will drive market growth such as Market drivers, restraints, prospects, opportunities, restraints, current trends, and technical and industrial advancements. The detailed industry study, industry sector development and improvement, and new product launches presented in this Direct-to-Consumer (DTC) Genetic Testing market report are of tremendous help to the significant new commercial entrants entering the market. This Direct-to-Consumer (DTC) Genetic Testing market report carries out an attentive market assessment and offers an expert analysis of the market considering the market development the current market situation and future projections. This Direct-to-Consumer (DTC) Genetic Testing market report study further highlights the market driving factors, market overview, industry volume, and market share. Since this Direct-to-Consumer (DTC) Genetic Testing market report offers an effective market strategy, key players can reap huge profits by making the right investments in the market. As this Direct-to-Consumer (DTC) Genetic Testing Market report depicts the ever-changing needs of consumers, sellers, and buyers across different regions, it becomes easy to target specific products and attain significant revenue in the global market.
The report includes company profiles of almost all the major players operating in the Direct-to-Consumer (DTC) Genetic Testing market. The Company Profiles section provides valuable analysis of key market players strengths and weaknesses, business developments, recent advances, mergers and acquisitions, expansion plans, global footprint, market presence, and product portfolios. This information can be used by players and other market participants to maximize their profitability and streamline their business strategies. Our competitive analysis also includes key insights to help new entrants identify barriers to entry and assess the level of competitiveness in the Direct-to-Consumer (DTC) Genetic Testing market.
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The direct-to-consumer (DTC) genetic testing market is expected to witness market growth at a rate of 12.15% in the forecast period of 2021 to 2028. Data Bridge Market Research report on direct-to-consumer (DTC) genetic testing market provides analysis and insights regarding the various factors expected to be prevalent throughout the forecast period while providing their impacts on the markets growth. The rise in the incidences ofgenetic disordersglobally is escalating the growth of direct-to-consumer (DTC) genetic testing market.
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Key Players Mentioned in the Direct-to-Consumer (DTC) Genetic Testing Market Research Report:
The major players covered in the direct-to-consumer (DTC) genetic testing market report are EasyDNA, Ancestry, 23andMe, Inc., Colour Genomics, Inc., Genesis HealthCare, Full Genomes Corporation, Inc., Helix OpCo LLC, IDENTIGENE, LLC, Living DNA Ltd, Mapmygenome, Pathway Genomics, Gene by Gene, Ltd., MyHeritage Ltd., 10X Genomics, Dante Labs, Inc., 24Genetics, LabCorp, Myriad Genetics, Inc., Quest Diagnostics Incorporated and Abacus Diagnostica Oy among other domestic and global players. Market share data is available for global, North America, Europe, Asia-Pacific (APAC), Middle East and Africa (MEA) and South America separately. DBMR analysts understand competitive strengths and provide competitive analysis for each competitor separately.
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Direct-to-Consumer (DTC) Genetic Testing Market Segmentations:
Geographic Segment Covered in the Report:
The Direct-to-Consumer (DTC) Genetic Testing report provides information about the market area, which is further subdivided into sub-regions and countries/regions. In addition to the market share in each country and sub-region, this chapter of this report also contains information on profit opportunities. This chapter of the report mentions the market share and growth rate of each region, country, and sub-region during the estimated period.
The market research analysis further talks about the forces of the industry to shape the market. Important drivers and end-user expectations are also discussed in the Direct-to-Consumer (DTC) Genetic Testing market report to gain solutions. The forecast of related revenue is also made in the report. The primary purpose of the report is to categorize opportunities. It also explains what business models are being used, what the current level of success is, what is the market share and size, and what is the current level of competition in the market. It also sheds light on the functional areas of the company. This Direct-to-Consumer (DTC) Genetic Testing market report also shows how dead stock affects profits and how product losses can be eliminated. With the business tactics provided here, it is possible to experience accelerated growth of your business. It also provides a clear picture of how different business sectors are experiencing the negative impact of COVID-19.
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Rapid genetic test to identify babies at risk of antibiotic-induced hearing loss – BioNews
11 April 2022
The world's first bedside genetic test that could prevent babies from losing their hearing has proven successful according to the NHS.
The 26 minutes genetic test, called the Genedrive MT-RNR1 test, can identify babies who carry a particular genetic variant that could make them permanently deaf when treated with a common emergency antibiotic. Babies admitted to intensive care with a suspected infection are routinely given an antibiotic called gentamicin within 60 minutes, which is used to safely treat approximately 100,000 babies a year. However, one in 500 babies carry the genetic variant that can make it cause permanent hearing loss. Researchers expect that the new genetic test could prevent permanent hearing loss in 180 babies in England every year.
'I am absolutely thrilled with the success of the study, and that this testing is now going to be used in three of our Trust's Neonatal Intensive Care Units it's actually going to make a real difference so babies are not going to lose their hearing for a preventable reason,' said one of the study's co-authors Professor William Newman, from the University of Manchester, and who led the initial Pharmacogenetics to Avoid Loss of Hearing (PALoH) study. 'The trial demonstrated that you can deploy rapid genetic testing in a clinical setting, and that the tests can be carried out within the 'golden hour' when severely unwell babies should be treated with antibiotics.'
In the current clinical trial, published in JAMA Pediatrics, researchers at two hospitals in Manchester used the Genedrive MT-RNR1 test to screen 424 newborn babies who required antibiotics for the MT-RNR1 genetic variant. Nurses conducted a cheek swab in the babies which was then inserted into a bedside machine for analysis.
The researchers also compared the mean times in giving the proper antibiotic to the babies screened with and without the new genetic test. They found that the mean times were almost the same, taking about 55 minutes. This means that including the new genetic test in clinical practice does not negatively impact the delivery of care.
To the researchers' knowledge, there are no genetic tests that could screen for the genetic variant in question within the critical first hour when antibiotics should be given to babies with severe infections. This is faster than previous genetic tests which normally would have taken several days.
The genetic test has already benefited some families as conveyed by first year nursing student Mary about her baby Khobi: 'Khobi was born with her bowel outside her tummy, which put her at risk of infection she needed antibiotics quickly but was given this new genetic test which showed she was susceptible to hearing loss from gentamicin... She was given an alternative antibiotic which didn't affect her hearing'.
Over 300 nurses are now being trained to use the machines across hospitals in Manchester, and it is expected the use of the test will become routine for babies who need antibiotic treatment in hospitalswithin weeks.
However, the new Genedrive MT-RNR1 genetic test should not be confused with gene drive a way of using genome editing to replace a natural gene with a new gene, that then gets passed on from generation to generation. Such gene drive technology only works on animals with short reproduction cycles, such as mosquitoes.
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Rapid genetic test to identify babies at risk of antibiotic-induced hearing loss - BioNews
Penn Medicine Appoints Robert Vonderheide to Second Five-Year Term as Director of the Abramson Cancer Center – Penn Medicine
PHILADELPHIA -- Robert H. Vonderheide, MD, DPhil, has been appointed to a second five-year term as director of the Abramson Cancer Center (ACC) at the University of Pennsylvania, following a highly successful tenure that saw 17 FDA approvals in oncology for therapies based on studies led or co-led by ACC investigators, high-impact basic and translational research discoveries, expansion of radiation oncology services to new sites across the Philadelphia region, and development of new methods for live tumor imaging during surgeries. Under his leadership, the ACC has also launched new cancer home care and telemedicine programs, and initiatives that drove improvements in germline genetic testing, cancer screenings and clinical trial participation by minority patients. He will continue in his roles as Vice President for Cancer Programs for the University of Pennsylvania Health System and Vice Dean for Cancer Programs in Penns Perelman School of Medicine.
In the next phase of his leadership, Dr. Vonderheide will build on the development of pathways to ensure that amid the increasingly complex landscape of cancer care and research patients across the entire health system are able to access leading-edge Penn Medicine care no matter where they live. Among key examples already underway: Proton therapy at Lancaster General Health and Virtua Health in New Jersey, both set to open this year; sub-specialty surgery consultation at outpatient sites and Penn Medicines regional hospitals; and telemedical options for genetic counseling and CAR T cell therapy and bone marrow transplant evaluation and education.
Patients can expect an exceptional experience at every location across our health system a place they are cared for by the most committed staff, specialized nurses, and top physician experts. Now, we are harmonizing that patient experience to ensure that every patient has the most seamless care and robust options across different sites of care, and the assistance to navigate easily between them, said University of Pennsylvania Health System CEO Kevin B. Mahoney. Under Dr. Vonderheides leadership, we are ensuring that every patient has every opportunity for the most personalized treatment and the very best chance at a cure through every door they enter across Penn Medicine.
Vonderheides renewal as ACC director includes a five-year, $130 million investment from the health system to provide resources and infrastructure to unify all missions of cancer care and research across Penn Medicine.
Growing access to cancer clinical trials is a key area of focus, through the development of a cancer clinical trials network, including more opportunities for patients at Penn Medicines regional hospitals to participate in clinical trials being led at the ACCs main campus sites in Philadelphia, and the expansion of other trial sites closer to patients homes. Additional efforts will harness the power of Penns unified electronic health record, from new approaches to involve patients in the Penn Medicine BioBank to expansion of programs providing patients with e-nudges to schedule mammograms and other tests and appointments through the MyPennMedicine portal.
This is a time of exciting, unprecedented momentum for cancer care and research. The cancer death rate has dropped faster in the past two years than ever before, due in part to the development of prevention strategies and of targeted and immunotherapies for an array of diseases, said J. Larry Jameson, MD, PhD, dean of the Perelman School of Medicine and Executive Vice President of the University of Pennsylvania for the Health System. Dr. Vonderheide embodies that momentum, as an exceptional collaborator who brings experts together across different disciplines to focus efforts on the most innovative ways to meet our shared goals of driving cancer discovery and improving patient care.
The ACC has continuously been designated as a Comprehensive Cancer Center by the National Cancer Institute (NCI) since 1973, one of 52 such Centers in the United States. It is among the nations most highly ranked cancer centers, providing care to adults during more than 300,000 outpatient visits annually across the six-hospital Penn Medicine Cancer System, as well as delivering more than 190,000 outpatient infusion therapies, over 130,000 radiation treatments and 330 stem cell transplants each year. The ACC was rated as exceptional during its competitive research funding review, the highest possible merit rating for an NCI Cancer Center.
Dr. Vonderheide is a leading authority in cancer immunology, leading a lab and clinical research focused on immunotherapies and vaccines for pancreatic, breast, and other cancers. He serves on the boards of directors for the American Association of Cancer Research, the American Association of Cancer Institutes, and the National Comprehensive Cancer Network. He is a member of the NCI Board of Scientific Advisers.
He received his bachelors degree in chemical engineering from the University of Notre Dame, and is a graduate of the Harvard Medical School, as well as Oxford University, where he earned a doctorate in immunology as a Rhodes Scholar. He completed residency training in internal medicine at Massachusetts General Hospital and a fellowship in medical oncology at the Dana Farber Cancer Institute.
Penn Medicineis one of the worlds leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nations first medical school) and theUniversity of Pennsylvania Health System, which together form a $9.9 billion enterprise.
The Perelman School of Medicine has been ranked among the top medical schools in the United States for more than 20 years, according toU.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $546 million awarded in the 2021 fiscal year.
The University of Pennsylvania Health Systems patient care facilities include: the Hospital of the University of Pennsylvania and Penn Presbyterian Medical Centerwhich are recognized as one of the nations top Honor Roll hospitals byU.S. News & World ReportChester County Hospital; Lancaster General Health; Penn Medicine Princeton Health; and Pennsylvania Hospital, the nations first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.
Penn Medicine is powered by a talented and dedicated workforce of more than 52,000 people. The organization also has alliances with top community health systems across both Southeastern Pennsylvania and Southern New Jersey, creating more options for patients no matter where they live.
Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2021, Penn Medicine provided more than $619 million to benefit our community.
Medical mystery: This woman’s brain lesions led to a diagnosis that affected her entire family – The Philadelphia Inquirer
In 2014, Barbara Small was a pediatric nurse at Childrens Hospital of Philadelphia, enjoying her work, her family, and traveling with her husband, Dave. She was an active 55-year-old until she broke her hip in a bike accident.
A week after surgery to repair her hip, her vision became blurry. She went to the walk-in clinic at Penn Presbyterians Scheie Eye Institute and learned that her optic nerve was damaged, but that it didnt have anything to do with her accident or surgery.
Soon after, she awoke one morning and couldnt control her left side. The emergency room doctor told her shed had a stroke and sent her to a neurologist. An MRI revealed she had a brain lesion, apparently an area of tissue that had been damaged by the stroke.
Over the next few years, as her eyesight continued to deteriorate, repeated MRIs showed more brain lesions. Small visited a low-vision specialist, retinologist, endocrinologist, hematologist, rheumatologist and three cardiologists. She was tested for multiple sclerosis, diabetes, and a host of other diseases. She didnt have any of them.
I didnt think they would ever find anything, that the tests would all be negative, recalled Small, now 63. I wasnt optimistic about getting a diagnosis but I felt like I could overcome and manage whatever was wrong.
Doctors did diagnose a number of issues, including retinopathy, a disease of the retina that can impair vision, and neovascularization, the growth of blood vessels that are part of abnormal tissue, such as tumors, and of course, those lesions on her brain. She was also seeing a physical therapist for balance issues. But what connected these diagnoses remained elusive.
Small often thought about her mother, who died while in her 40s of an illness that was never diagnosed. When Small graduated from nursing school, she looked at her mothers medical records, which showed hardening of the arteries, arterial sclerosis, collagen disease, cardiac arrhythmias, and liver and kidney failure.
They summarized it as multisystem failures, Small said.
Her mother, who died in 1969, hadnt displayed any brain or eye symptoms, however. And her father, who lived into his late 80s, never spoke about his wifes illness.
In January 2018, almost four years after Smalls first symptoms, her neurologist sent her for genetic testing.
When I saw the geneticist, I said, This will be my last doctor, Small said. The geneticist tested me for four different genetic diseases that involve the brain and the eye and I tested positive for the TREX 1 gene mutation.
Small was diagnosed with RVCL retinal vasculopathy with cerebral leukoencephalopathy an extremely rare, inherited disease with no known cure.
Patients with RVCL are typically healthy until the fourth or fifth decades of life, and then they suddenly start to develop a variety of symptoms that can affect multiple organs, but especially the brain and the eye, said Jonathan Miner, associate professor of medicine and director of the RVCL Research Center at Penn Medicine.
Its a relentless disease that results in premature death in 100% of cases, in many cases within five or 10 years of onset.
As devastating as the news was, Small also had some measure of relief to be able to put a name to her constellation of issues.
I thought they would never find anything, that I would just have these odd symptoms, she recalled. Luckily, I had good doctors at Penn who did the research and were on this journey with me, trying to figure it out. They gave me a lot of resources so I felt very well-informed.
Uncovering Smalls diagnosis was difficult because RVCL is so rare just 43 families in the world are known to have it.
I suspect there are many more RVCL patients who just havent been diagnosed yet, Miner said. The disease can be confused with other diseases, like multiple sclerosis, lupus or brain tumors.
Disease of the retina is a hallmark of RVCL, but it can look very similar to diabetic eye disease.
The patients will end up losing vision, can develop glaucoma or blood vessel disease in the retina, dementia, cognitive impairment, memory problems, difficulty speaking or walking, and stroke symptoms, he said. A lot of patients have kidney, liver or thyroid disease. In all cases, without having a genetic test, these findings can end up being attributed to something else.
Within families with the disease, 50% will inherit the mutation that causes RVCL, and 100% of those with the mutation will develop the disease, Miner said. Since her diagnosis, Smalls family has undergone genetic testing that has uncovered more cases, including in one of her daughters and her brother. Small suspects that her mother had it, too, though her symptoms were different from her own.
Smalls brother, James Davis, 67, discovered that he had RVCL in July 2021. He had been getting injections in his right eye to treat vision problems for several years and later developed glaucoma. Otherwise, he felt fine until he didnt.
In June of 2021, I had extreme fatigue, loss of appetite, problems with my right eye, and funky walking, said Davis, who lives in Plymouth, Minn.
An MRI showed lesions concerning for possible malignancy, so he was expecting he might need treatment for brain cancer. When he shared the news with his sister, she put him in touch with Miner, who asked Davis to hold off on seeking additional evaluation until he had genetic testing. The test confirmed that Davis, too, had the TREX 1 gene mutation.
It was a big shock, said Davis. We talked to our financial planner to be sure theres sufficient money for my wife, Dale, and were trying to enjoy things as much as we can because my life expectancy is a lot shorter than we planned.
Davis son is 27 and plans to have genetic counseling and testing soon.
Shortly after Smalls diagnosis, her daughters Kimberly Antonelli, 35, and Lindsay Ward, 32, had genetic counseling, and were told that many people dont want to be tested because they fear the results and think that they cant do anything about them. They saw it differently.
Getting tested was a very easy decision for me, said Ward, who lives in West Deptford. Knowledge is power. But it was a very hard eight weeks waiting for the results.
She was especially anxious for her son, Declan, now 4. She does have the mutation, which means Declan might, as well.
I had prepared myself for the worst, she recalled. In a weird way I felt it was a positive for my mom because now were in this together. I always try to see the bright side of things but obviously I was devastated. To think my future might not be as long as I had anticipated was hard.
Hoping to become pregnant again, Ward went through preimplantation genetic diagnosis (PGD,) a laboratory procedure used in conjunction with in vitro fertilization (IVF) to reduce the risk of passing on inherited conditions.
We had seven embryos. Four had the mutation and three did not, she recalled. I did three rounds of IVF and all resulted in eventual miscarriage. It had taken such an emotional, physical and mental toll on me that I couldnt do it again. We had our son, Jason, who is now 8 months old, naturally.
Ward hopes that by the time her children grow up, there will be treatments or even a cure for RVCL, should they turn out to have the mutation. She has decided to wait on testing them so that they can make the choice together when they are older.
I take things more seriously and live more for the moment because at any point I could have the onset or my moms could get worse, she said. This morning we went to get a dozen specialty doughnuts, and, why not! Youve got to live life.
Her big sister, Kimberly, was relieved to find out that she doesnt have the gene, and so neither do her four children. Yet her joy for them is tempered by grief. Im happy that Im negative but Im sad that my other family members arent, said Antonelli, who lives near Pittsburgh. My sister and I are very close.
Another source of stress is the fact that few people can really understand what its like to have such a rare condition.
You can sympathize with people who have cancer because you understand it, Antonelli said. My mom has a death sentence but people cant appreciate how dangerous and unknown these rare diseases are. There are very few visible symptoms.
Miner, who came to Philadelphia from St. Louis in 2021 to lead Penn Medicines research center, is among numerous experts seeking answers to RVCL.
What motivates me is knowing that this is a solvable problem because its a disease caused by a single gene mutation, he said. This disease is going to be eventually treatable and hopefully cured, but we dont know how long its going to take, five years or 15 years.
Unlike many other diseases, RVCL is due to one protein encoded by one gene, said Miner. Now that we know the genetic cause, were hoping to be able to develop personalized medicines for these patients and their families. Understanding this particular gene and protein is about far, far more than this specific disease. The drugs that are being developed to target the TREX 1 protein are very likely to become useful for other diseases, as well.
Small has some weakness on her left side, which causes a slight limp; her vision is impaired; and she tires easily. She left her nursing job in October 2019.
Now that her husband, Dave, is retired, they are enjoying travel and spending time with their family. She maintains an optimistic outlook, hopeful that progress will be made in unlocking the mysteries of RVCL, if not for her then for her children, grandchildren and future generations.
My outlook is good, she said. My husband tells me Im going to live until Im 80. Im not going to live until Im 80 but thats OK. Im much more likely not to make it out of my 60s but that doesnt depress me. Its just the way its working out.
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Medical mystery: This woman's brain lesions led to a diagnosis that affected her entire family - The Philadelphia Inquirer
Predictive Genetic Testing And Consumer Genomics Market Report Covers Future Trends With Research 2022 to 2029 23andMe, Inc., Myriad Genetics …
New York, United States The Predictive Genetic Testing And Consumer Genomics Market research report provides all the information related to the industry. It gives the outlook of the market by giving authentic data to its client which helps to make essential decisions. It gives an overview of the market which includes its definition, applications and developments and manufacturing technology. This Predictive Genetic Testing And Consumer Genomics market research report tracks all the recent developments and innovations in the market. It gives the data regarding the obstacles while establishing the business and guides to overcome the upcoming challenges and obstacles.
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Competitive landscape:
This Predictive Genetic Testing And Consumer Genomics research report throws light on the major market players thriving in the market; it tracks their business strategies, financial status and upcoming products.
Some of the Top companies Influencing in this Market include:23andMe, Inc., Myriad Genetics, Inc., F.Hoffmann-La Roche Ltd., Abbott Laboratories, Genesis Genetics, Agilent Technologies, Thermo Fisher Scientific, Inc., BGI, Bio-Rad Laboratories Inc., Illumina, Inc., Counsyl, Inc., ARUP Laboratories
Market Scenario:
Firstly, this Predictive Genetic Testing And Consumer Genomics research report introduces the market by providing the overview which includes definition, applications, product launches, developments, challenges and regions. The market is forecasted to reveal strong development by driven consumption in various markets. An analysis of the current market designs and other basic characteristic is provided in thePredictive Genetic Testing And Consumer Genomics report.
Global Predictive Genetic Testing And Consumer Genomics Market Segmentation:
Market Segmentation: By Type
Genetic Susceptibility TestNutria GeneticsSkin & Metabolism GeneticsOthers
Market Segmentation: By Application
Breast & Ovarian CancerCardiovascular screeningDiabetic Screening & MonitoringOthers
Regional Coverage:
The region wise coverage of the market is mentioned in the report, mainly focusing on the regions:
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An assessment of the market attractiveness with regard to the competition that new players and products are likely to present to older ones has been provided in the publication. The research report also mentions the innovations, new developments, marketing strategies, branding techniques, and products of the key participants present in the global Predictive Genetic Testing And Consumer Genomics market. To present a clear vision of the market the competitive landscape has been thoroughly analyzed utilizing the value chain analysis. The opportunities and threats present in the future for the key market players have also been emphasized in the publication.
This report aims to provide:
Table of Contents
Global Predictive Genetic Testing And Consumer Genomics Market Research Report 2022 2029
Chapter 1 Predictive Genetic Testing And Consumer Genomics Market Overview
Chapter 2 Global Economic Impact on Industry
Chapter 3 Global Market Competition by Manufacturers
Chapter 4 Global Production, Revenue (Value) by Region
Chapter 5 Global Supply (Production), Consumption, Export, Import by Regions
Chapter 6 Global Production, Revenue (Value), Price Trend by Type
Chapter 7 Global Market Analysis by Application
Chapter 8 Manufacturing Cost Analysis
Chapter 9 Industrial Chain, Sourcing Strategy and Downstream Buyers
Chapter 10 Marketing Strategy Analysis, Distributors/Traders
Chapter 11 Market Effect Factors Analysis
Chapter 12 Global Predictive Genetic Testing And Consumer Genomics Market Forecast
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Predictive Genetic Testing And Consumer Genomics Market Report Covers Future Trends With Research 2022 to 2029 23andMe, Inc., Myriad Genetics ...
When to Worry About Breast Pain: Causes, Diagnosis, Treatment – Healthline
Breast pain can be worrisome, but its not usually a cause for concern.
Hormones play a big role in the development of breast tissue and the pain that can develop there. This is especially true in women, as hormone fluctuations cause ducts and glands in the breasts to grow and shrink in cycles.
This article will explore the causes of breast pain, as well as when to contact a doctor and how theyll diagnose your symptoms.
While anyone can experience breast pain, its more common in people with female sex hormones like estrogen and progesterone. These hormones play a big role in the fluctuation of breast tissue structure and size.
During significant hormonal shifts like pregnancy and while breastfeeding, breast pain or tenderness is actually expected.
Most types of breast pain fit into two categories: cyclic and noncyclic breast pain.
Cyclic breast pain is linked to your menstrual cycle and is believed to be caused in part by hormone changes. Pain can develop at different points in this cycle. But its most common at the start of the cycle or during ovulation.
Cyclic breast pain is barely noticeable for some people and excruciating for others. Its not uncommon for this pain to be felt in just one breast or the other. It is often a radiating pain that begins near the armpit.
Noncyclic breast pain can occur at any time and is not linked to your menstrual cycle. This type of pain is pretty uncommon. It can be caused by all kinds of things, like trauma, an injury to the breast tissue, or even arthritic pain. The type of pain can vary, but its usually a continuous pain that is felt in one specific area of the breast. It can be sharp, dull, or radiating.
Cyclic and noncyclic causes of breast pain include things like:
Most causes of breast pain will go away on their own with time, medications, or lifestyle changes. However, if youre experiencing any of the following symptoms, schedule an appointment with a doctor for an evaluation and diagnosis:
Your doctor will begin an examination for breast pain by asking you about your personal and family medical history. Theyll want to know which of your relatives if any have had breast cancer and at what age.
Genetic testing using your blood or saliva could provide clues about your cancer risk. But there are other considerations in your family history, too.
Your doctor may suggest a one-time or regular mammogram to examine your breast tissue more closely. The U.S. Preventive Services Task Force recommends that all women between the ages of 50 and 74 receive a mammogram at least once every 2 years. Get one more often if you have an increased risk of breast cancer.
Other tools that can help identify tissue changes, breast cancer, or other conditions may include:
Biopsies are the tool of choice when it comes to diagnosing breast lumps, which are often associated with a higher risk of cancer.
A mammogram is usually the go-to tool when it comes to diagnosing breast pain and other issues, but ultrasound imaging is sometimes more accurate in people under 30 years old. Mammograms are highly accurate at detecting cancer, though, especially in older adults.
Treatment of your breast pain depends on the cause. Breast cancer treatment is complex and depends on the cancer type and stage.
Most breast pain, however, can be addressed with medications or lifestyle changes. Some things that you can do to relieve breast pain:
Breast pain is common and usually not serious. Most women will experience breast pain at some point in their lives, but only a few will be diagnosed with a serious problem like cancer.
If you have concerns about your breast pain, talk with a doctor about your symptoms. Be sure to follow their recommendations for regular screenings.
Discussing your risk factors including family and genetic history can help you and your doctor make the best decisions regarding your breast health.
Excerpt from:
When to Worry About Breast Pain: Causes, Diagnosis, Treatment - Healthline
Trisomy 18: Diagnosis, Causes, Prognosis, and More – Healthline
Did you know that your babys genetic makeup was determined at conception? From the moment the sperm met the egg, your little ones genetic code DNA began forming. Its made up of 23 pairs of chromosomes. Sometimes, though, extra chromosomes make their way into the mix and can result in something called a trisomy.
Edwards syndrome is also known as trisomy 18. It means a person has an extra copy of chromosome number 18, leading to issues with development. Heres more about the symptoms of this syndrome, what causes it, and what you might expect after a diagnosis.
Trisomy 18 is a rare genetic disorder that affects approximately 1 in every 3,315 births in the United States around 1,187 babies each year.
In typical development, a baby gets 23 pairs of chromosomes from its parents during conception 22 are called autosomes, and 1 set is made up of sex chromosomes (X and/or Y, depending on the babys sex).
The word trisomy means three bodies. When there are three copies of the chromosome versus the usual two, it creates an imbalance. As a result, a baby may be born with certain structural changes some of which may lead to miscarriage, stillbirth, or death after the baby is born.
Babies can be born with an extra copy of chromosome 18 in each cell in the body. This is called complete trisomy 18 and causes more serious health outcomes.
Mosaic trisomy 18 happens when only some cells in the body contain the extra chromosome. Around 5 percent of babies with trisomy 18 have the mosaic form. This generally leads to milder irregularities and longer life expectancy.
Partial trisomy 18 happens when an extra copy of chromosome 18 attaches to another chromosome. Again, the severity of the syndrome tends to be associated with the total number of cells affected by the trisomy. So, a partial trisomy tends to have less severe effects and longer life expectancy.
You may not notice anything different in your pregnancy if your baby has Edwards syndrome. In fact, you may not learn about your babys diagnosis until after your doctor orders certain prenatal screening tests, like:
Some families do not discover their childs diagnosis until birth, when the following physical features may include:
Other health issues may include:
Trisomy 18 is caused by any situation that leads to an extra copy of chromosome 18 in the body.
In most cases, it happens when the sperm meets the egg during conception. In one scenario, the reproductive material of either parent may spontaneously divide. In another, the trisomy may happen as cells divide after fertilization. Whatever the case, the extra chromosome happens at random.
Translocation is another possibility, which means that parts of chromosomes break off and attach to other chromosomes. This may happen randomly or through a balanced translocation, in which one parent has a set of chromosomes that arent typical but are balanced. When chromosomes are balanced, they dont cause medical issues. After reproduction, though, genetic information passed on may cause a trisomy.
Edwards syndrome may be diagnosed at some point during your pregnancy. You may have a cell-free DNA screening (cfDNA) at any time after 10 weeks of pregnancy and until delivery. cfDNA is a simple blood test that screens for genetic conditions. A positive result on this test means youll need further testing to confirm the results.
Other tests during pregnancy include:
Other times, trisomy 18 may not be diagnosed until after your baby is born. Your childs doctor may diagnose it based on:
There is no cure for trisomy 18. Since babies with this condition tend to have multiple health issues, youll work with a team of doctors to create a customized treatment plan. In more severe cases, some families favor palliative care or hospice care.
Treatments are more about making a child comfortable or correcting the issues that affect an individual child. For example, surgery may be an option to treat things like:
As a child grows, they may need support academically and physically. Early intervention and special education programs can help fill these gaps.
You may be surprised to learn that there are very few risk factors for Edwards syndrome.
There may be an increased chance of having a baby with a trisomy as you get older. While different reports show mothers in their late teens and 20s can have children with trisomy 18, the mean age is closer to 32.5 years old.
In rare cases, trisomy 18 may be inherited from a biological parent (through balanced translocation). If you already have had one child with a trisomy, your doctor may suggest getting genetic testing to assess your chances of having another child with a similar condition.
The vast majority of the time, though, Edwards syndrome happens by chance during conception when the sperm meets the egg.
Its important to be prepared for all possibilities with a condition like trisomy 18. Researchers share that nearly half of all babies born with Edwards syndrome who survive delivery may not live beyond the first week of life.
That said, the severity of the syndrome depends on the type (complete, mosaic, partial, etc.) and whatever effects it has on your individual child. All children are different, and all outlooks will be unique as a result.
Of children born with Edwards syndrome, nearly 50 percent will not survive beyond the first week of life. However, around 10 percent will reach their first birthday, and some may live to their teen years or even adulthood, but they will need medical support or therapies, including:
While you may be worried about your child and the outlook over the long term, try taking it day by day. And dont forget about yourself or your own mental health in the process.
There is support for families with children who have Edwards syndrome. Consider contacting the Trisomy 18 Foundation or the Support Organization for Trisomy 13, 18, and Related Disorders (SOFT). Your doctor may also be able to help connect you with a local group for support and other resources.
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Trisomy 18: Diagnosis, Causes, Prognosis, and More - Healthline
The ‘All of Us’ Research Program Is Helping Make Medicine More Precise for Diverse Populations. Five Years In, How Is It Going? – Columbia | Neighbors
After that, you sit back and you wait for your results to come in and you wait for information to come to you. So if there's a new survey that comes out, well let you know, and it's up to the individual, how much, or how little they want to participate. Again, we'd love everyone to continue to complete the surveys as they go along because the more information that we have about lifestyle, environment, family health history, social determinants of health, all of that helps researchers have a more dynamic and full understanding of what is going on. Not only with the individual, but they can see it on a larger scale in communities and different populations.
La Keisha Jones:One thing with a trial is that you are providing treatment. We do not provide treatment. We are just collecting information to create a data cohort of information for researchers to look at and that would be the difference there. The one thing that we do offer, though, is that if something is discovered individuals are notified. If there is something of health significance with the genetic results that is found, then a genetic counselor is offered to them to explain what this means to them and what it can mean to their family.
Our program is giving information back so that people can have more informed conversations. They can be more informed about their risk for a disease possibly, or the risks that they may or may not face. Again, if something comes back, it doesn't necessarily mean that disease could take place, but if they are aware of it, they can keep it to themselves or they could share it with their family, or they could take it to their doctor and just say, "Hey, you know, we would never have known this because genetic testing isn't on the list of things that normally take place and I might be at risk. What should we do about it?" Maybe it means earlier screenings. Maybe it means making healthier decisions.
There are also different levels of participation. Some people just decide they want to do the online portion. Some people want to provide genetic information but not to receive their results. You have the option to say yes, no, maybe, or I don't know yet.
Lakeisha Jones:Anyone over the age of 18 can enroll. It doesn't matter if you have any diseases or don't have any diseases, anything of that sort. We do ask individuals to have an address in the U.S. and contact information here in the U.S. for about six months out of the year, just so that when information is returned, they can make sure that they can be followed up with and be contacted. You don't need health insurance to participate and you do not need to be a U.S. citizen.
That's the beautiful thing about New York, too, we have a very diverse staff. Our staff is bilingual, English and Spanish.
To sign up online or find phone numbers of where to talk to someone about the program, you can visit the New York City Consortium websiteor call 212-205-9927.
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The 'All of Us' Research Program Is Helping Make Medicine More Precise for Diverse Populations. Five Years In, How Is It Going? - Columbia | Neighbors
Multi-Site Clinical Validation of Prospera Heart Test Demonstrates Outstanding Performance in Assessing Heart Transplant Rejection – PR Newswire
DEDUCE study demonstrates AUC of 0.86 in overall cohort, including more than 700 prospective samples
AUSTIN, Texas, April 13, 2022 /PRNewswire/ --Natera, Inc. (NASDAQ: NTRA), a global leader in cell-free DNA testing, todayannounced that its clinical validation study1 on its donor-derived cell-free DNA (dd-cfDNA) test for the assessment of acute rejection in heart transplant patients, Prospera Heart, has been published in the Journal of Heart and Lung Transplantation - a leading journal with the highest impact factor in the transplantation sector2.
This multi-site clinical validation, named the DEDUCE study, was conducted in partnership with the University of Utah and the University of California, San Diego and evaluated 703 prospective and 108 retrospective samples, (811 samples total) from 223 patients. The patient cohort included a large number of biopsy-confirmed rejections - 32 samples correlating to antibody mediated rejection (AMR) and 17 samples correlating to acute cellular rejection (ACR). The Prospera Heart test exhibited excellent performance with an overall 0.86 AUC for identifying acute rejection. Notably, the performance was also exceptional in the prospective arm-alone (0.87 AUC3).
"There is a critical unmet need for an accurate and less invasive approach for rejection surveillance after heart transplant," said Josef Stehlik, senior author and medical director of the Heart Transplant Program and co-chief of the Advanced Heart Failure Program at the University of Utah School of Medicine. "Incorporation of a noninvasive assay to reduce or replace the use of endomyocardial biopsy requires a very high performance standard. The Prospera Heart test demonstrated performance that I believe the clinicians will be very excited about."
The study also included an analysis on the use of dd-cfDNA concentration alone to identify rejection. dd-cfDNA concentration demonstrated an AUC of 0.88 overall, and 0.89 in the prospective cohort, highlighting the potential (upon additional studies and evaluation) to further improve the performance of the Prospera Heart test by evaluating both dd-cfDNA concentration and donor fraction.
The Prospera Heart test was launched in late 2021 and will continue to be evaluated in a variety of additional studies, including the NIH-supported DTRT study, and the Natera-sponsored DETECT trial, expected to be the first randomized controlled trial comparing dd-cfDNA surveillance to endomyocardial biopsy surveillance in patients of all risk profiles from 30 days post transplant. Combined, these trials are expected to include more than 775 heart transplant patients across multiple centers, underscoring Natera's commitment to generating robust scientific evidence.
About the Prospera test
TheProsperatest leverages Natera's core single-nucleotide (SNP)-based massively multiplexed PCR (mmPCR) technology to identify allograft rejection non-invasively and with high precision and accuracy, without the need for prior donor or recipient genotyping. The test works by measuring the fraction of donor-derived cell-free DNA (dd-cfDNA) in the recipient's blood. It may be used by physicians considering the diagnosis of active rejection, helping to rule in or out this condition when evaluating the need for diagnostic testing or the results of an invasive biopsy. The Prospera test has been clinically and analytically validated for performance regardless of donor relatedness, rejection type, and clinical presentation. It has been developed and its performance characteristics determined by Natera, the CLIA-certified laboratory performing the test. The test has not been cleared or approved by the US Food and Drug Administration (FDA). CAP accredited, ISO 13485 certified, and CLIA certified.
About Natera
Natera is a global leader in cell-free DNA testing, dedicated to oncology, women's health, and organ health. Our aim is to make personalized genetic testing and diagnostics part of the standard of care to protect health and enable earlier and more targeted interventions that help lead to longer, healthier lives. Natera's tests are validated by more than 100 peer-reviewed publications that demonstrate high accuracy. Natera operates ISO 13485-certified and CAP-accredited laboratories certified under the Clinical Laboratory Improvement Amendments (CLIA) in Austin, Texas and San Carlos, California. For more information, visit http://www.natera.com.
Forward-Looking Statements
All statements other than statements of historical facts contained in this press release are forward-looking statements and are not a representation that Natera's plans, estimates, or expectations will be achieved. These forward-looking statements represent Natera's expectations as of the date of this press release, and Natera disclaims any obligation to update the forward-looking statements. These forward-looking statements are subject to known and unknown risks and uncertainties that may cause actual results to differ materially, including with respect to our efforts to develop and commercialize new product offerings, whether the results of clinical or other studies will support the use of our product offerings, our expectations of the reliability, accuracy and performance of our screening tests, or of the benefits of our screening tests and product offerings to patients, providers and payers. Additional risks and uncertainties are discussed in greater detail in "Risk Factors" in Natera's recent filings on Forms 10-K and 10-Q and in other filings Natera makes with the SEC from time to time. These documents are available atwww.natera.com/investorsandwww.sec.gov.
ContactsInvestor Relations:Mike Brophy, CFO, Natera, Inc., 510-826-2350Media:Kate Stabrawa, Communications, Natera, Inc., 720-318-4080[emailprotected]
References
SOURCE Natera, Inc.
World Health Day | Family Cancer Syndrome: What genes tell us about the risk of developing cancer – CNBCTV18
Familial cancer syndrome is a genetic condition that increases the risk of various cancers in related family members. Hereditary cancer disorders are caused by mutations in certain genes passed down from parents to offspring, and certain cancer patterns can be found in families with hereditary cancer syndrome.
This could be due to other causes like the fact that family members share certain activities or exposures that raise cancer risk, such as smoking. Rarely, factors that run in families, such as obesity, may also increase cancer risk.
The common cancers and associated syndromes:
Hereditary Breast and Ovarian Cancer (HBOC) syndrome: tumors are commonly found in women younger than the average age and are caused by a hereditary mutation in either the BRCA1 or BRCA2 gene.
Lynch syndrome: also known as hereditary non-polyposis colorectal cancer, is the most common genetic syndrome that raises a person's risk of colon cancer in those under the age of 50.
Li-Fraumeni syndrome: a rare genetic disease that causes a variety of malignancies in individuals in their twenties and thirties, including sarcoma, leukemia, brain tumors, adrenal cortex cancer, and breast cancer.
Genetic counseling and testing: People with a strong family history of cancer may be interested in learning more about their genetic composition. Since hereditary mutations impact all cells in a person's body, genetic testing on blood or saliva samples is frequently used to detect them.
Germline mutation
Any observable alteration within germ cells is referred to as a germline/germinal mutation. When a mutant sperm or oocyte combine to form a zygote, the only mutations that can be passed on to progeny are those in these cells.
Individuals with mutations in tumor suppressor genes or proto-oncogenes are more likely to develop tumors. About 5-10% of all cancers are inherited through defective inherited genetic alterations.
Because the protein produced inhibits tumors, those who inherit germline mutations in TP53 are prone to specific cancer types. Breast and ovarian cancer as well as hereditary non-polyposis colorectal cancer, are two further examples.
Indias stance on family cancer syndrome
According to the WHO and the American Cancer Society, cancer kills one out of every six people on the planet, more than HIV/AIDS, TB, and malaria combined.
Are these genetic tests available in India?
Yes, these genetic tests are now accessible in India and require only a simple blood test (Multi-gene panel testing).
Who must undergo these tests?
Strong family history of Cancers like Breast cancer, Ovarian cancer, Colon cancer etc. happening in multiple family members and or many generations needs to get tested.
When cancer happens at an early age say <30 years, needs to be tested again.
There are other situations where one needs to get tested for which they can consult their Oncologist or physician.
What preventive strategies are available?
Those who test positive for these syndromes have a few cancer prevention options like preventive surgeries, tablets, and also aggressive cancer screening programs to detect cancers at early stages and treat them effectively.
This data can help clinicians make better clinical management decisions. Furthermore, mutations in particular genes boost therapeutic response, contributing to precision/personalized medicine, in which patients are treated depending on their mutations.
Given the numerous benefits of detecting genetic differences in hereditary malignancies, the medical community has been working to make genetic testing more affordable and accessible to the general people, allowing for faster disease diagnosis, management, and treatment.
-The author Dr. Vivek Belathur is MD, DM, ECMO, Senior Consultant Medical Oncology at Fortis Hospitals, Bannerghatta Road. The views expressed are personal.
(Edited by : Priyanka Deshpande)
First Published:Apr 07, 2022, 08:42 PM IST
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World Health Day | Family Cancer Syndrome: What genes tell us about the risk of developing cancer - CNBCTV18
Genetic testing | healthdirect
On this pageWhat is genetic testing?
Genetic testing can give you important information if you are planning a family or if you, or someone you care for, has a genetic disorder. But before you start, there are plenty of issues for you to think about, including where to turn if you choose to do a test.
You might think about genetic testing if:
Genetic tests all look for variations from what genes should normally look like. There are many variations found in genes, and only some of them are important.
The testing is only the first part. The important part is understanding what the test results mean. For that, you should talk to a doctor or genetic counsellor.
Most genetic tests are blood tests. It is also possible to do tests on a sample taken from the inside of your mouth (known as a buccal smear) or from your saliva. These are easy and safe.
If you're pregnant, prenatal testing may include a blood test, chorionic villus sampling (CVS) or amniocentesis. Visit Pregnancy, Birth and Baby website for more information on prenatal screening.
It's also possible to order tests online without seeing a doctor. This is not a good idea. The National Health and Medical Research Council warns people to be cautious of this.
The cost varies enormously. Before you start, ask your doctor or genetic counsellor how much the tests cost and whether or not you're covered at all by Medicare. Tests ordered online are not covered by Medicare.
The main benefit is knowledge: if you have a genetic test, you can get advice about what that test means. If you have a condition that might have a genetic basis, you will understand it more clearly.
If you're having a baby, it helps you plan how to handle the pregnancy and birth and the life that follows. It can also help if you're wondering about having a termination.
For some people, testing can get rid of some of the uncertainty around their health, for example, fears they may be a genetic carrier of a particular disorder.
If you feel well but are worried about having a condition that runs in your family, genetic testing can prompt you into action to reduce your chances of getting ill, whether that's through diet and exercise or through screening for a certain condition.
Some people face discrimination at work if they are known to have a genetic mutation.
If you have any genetic tests, you will probably need to declare them for any life insurance or income protection. If the tests identify a gene variant that increases your risk of disease, that might make it hard or impossible for you to get insurance.
Some of the companies that you can order tests from online are based overseas. They might be less careful about privacy than Australian companies. Some overseas companies sell information about genetic tests to others. Ordering tests from these companies has a risk that your private information could become available to others.
Genetic testing is not always accurate. If you find that you have a variation to a gene, that gives a clue. But it doesn't tell you how much you will affected by the abnormal gene. Some people will be severely affected by an abnormal gene, while another will not be affected too much at all.
Also, testing for genes is complex and it can be hard to tell what minor changes in a gene mean. It is likely that some of the testing done by companies offering their services online will be inaccurate.
That decision is entirely up to you. There is no right or wrong answer. Talk to family and friends you trust. You can talk to your doctor or to a genetic counsellor. Take your time.
It's best to see your doctor or a genetic counsellor if you're thinking about having a test. That way, you can talk through the implications of having the test. And if you go ahead with it, you can get some good advice about what the results mean.
If you have a genetic test, you might find out things you wanted to find out, but you might also find out things you didn't want to know. Your relatives might want to know everything, or they might want to know nothing.
The best way is to talk to them before you have any test, so you understand their point of view.
Visit our 'Guide to genetics disorders' to learn more about genetic disorders and where to go for help.
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Genetic testing | healthdirect
Genetic Testing for Breast Cancer – National Breast Cancer …
Who Should Be Tested For BRCA?
WhileBRCA1 and BRCA2 gene mutationsmay increase your odds of developing breast cancer, your odds of having either mutation are pretty small. An estimated 0.25% of the general population carries a mutated BRCA gene, or about one out of every 400 people.
For some people, though, the chances of having a BRCA gene mutation are much higher. Genes are inherited, which is why knowing your family history is important when determiningbreast cancer risks. If one of your parents has a BRCA mutation, you have a 50% chance of inheriting the mutated gene.
Odds can also vary depending on a persons ethnicity. For example, people of Ashkenazi Jewish descent have a 2.5% chance of inheriting a BRCA mutation, or about 10 times the rate of the general population.
Because the overall odds are so low, most experts recommend that only people with a heightened risk get tested for BRCA mutations. Likewise, insurance companies often only cover genetic counseling and testing for individuals who are at high risk. A person could be considered at high risk for BRCA mutations if they have a family history of:
There are alsoother gene mutations besides BRCA that could increase the risk of breast cancer. The most prominent of these is PALB2. As with BRCA1 and BRCA2, testing for other genetic mutations is recommended only if you are at high risk for that particular gene.
Genetic counseling is recommended for those who are interested in being tested for breast cancer gene mutations.You can talk to a doctor about getting a referral to a genetic counselor, who can help determine whether genetic testing would make sense based on family history and risk factors.Since many genetic tests only look for one specific gene mutation, the counselor can often help determine which mutations to test for.
The genetic test itself simply involves taking a small sample of blood or saliva, which is sent to a lab for analysis. Results can take several weeks or months.
Genetic testing results are not always clear-cut:
After receiving genetic test results, a patient should meet again with a genetic counselor to clarify what the results mean. Whether the results are positive, negative, or ambiguous can impact many life decisions, and a counselor can help navigate those decisions.
Genetic testing can be scary. The results also can impact other family members such as siblings and offspring; when someone tests positive for a gene mutation, their siblings and offspring will have a 50% risk of also testing positive. Having a discussion with a genetics counselor first is encouraged so a discussion about the potential scenarios can take place.
For a woman who tests positive for BRCA1 or BRCA2 gene mutation, bilateral mastectomies are usually recommended particularly if she has just been diagnosed with breast cancer.
Originally posted here:
Genetic Testing for Breast Cancer - National Breast Cancer ...
Gene Therapy for Hearing Loss on the Horizon : The Hearing Journal – LWW Journals
Turn up your hearing aid, will ya?
http://www.Shutterstock.com. Gene therapy, hearing loss.
As lewd and crude and rude as it sounds, it is the general response for the person on the street, even if muttered underneath his or her breath, when dealing with someonefriend, family, co-worker, etc.who suffers from mild to moderate hearing loss.
Aside from some surgical procedures that are not as commonly known, hearing deviceswhile being constantly upgraded in the digital agehave been the traditional source of help.
But there is one other ray of hope burgeoning on the horizon: Gene therapy.
From the Ivy League to the University of Miami to the University of Michigan to Oregon State to Tel Aviv, experts are on the verge of cracking the case.
Although not yet available, inner ear gene therapy for monogenic hearing loss is an emerging technology, explained Jeffrey R. Holt, PhD, a professor of Otolaryngology & Neurology at Harvard Medical School and of Boston Childrens -Hospital. There is growing interest from scientists, funding agencies, industry and patients, all spurred on by recent proof-of-concept studies showing recovery of auditory function in animal models of human hearing loss.
Holt added that genetic treatments for hearing loss sit on the horizon and the significance of this new therapeutic strategy for patients and families is high.
Nonetheless, he cautioned that the most common forms of genetic hearing loss, the result of mutations in GJB2, may be difficult to treat using gene therapy. Other rare forms of genetic hearing loss, due to mutations in OTOF, TMC1, or Usher syndrome, may be those first in line, but others will like follow.
Fan-Gang Zeng, PhD, the director of the Center of Hearing Research at the University of California-Irvine School of Medicine, explained that gene therapy addresses hearing loss biologically by repairing or restoring damaged cells, which hearing aids or cochlear implants do not accomplish.
Gene therapy is the future, but we dont know when the future will come, he said. While gene therapy is still in infancy, genetic screening of hearing loss is relatively matured. Concurrent screening with traditional audiological measures (OAE and ABR) and genetic testing can improve both the accuracy and prognosis of hearing loss while helping patients and doctors predict its course of development and management on an individual basis.
Yehoash Raphael, PhD, is a professor of Otolaryngology at the University of Michigans Kresge Research Institute. He has been recognized around the globe for his research, the interests of which include inner ear biology, protection and regeneration, gene therapy, genetic deafness, CHARGE Syndrome and stem cell therapy.
Raphael believes gene therapy should be advanced for several clinical conditions, both environmental and genetic.
At the cellular level, the goals would be related to repair and regeneration of cells that are injured or lost, he said. At present, amplification or cochlear implants provide an acceptable solution for many patients.
He cautioned, however, the biological therapy that restores function may work better, but is not currently available.
Ideally, we would like gene therapy to improve so it can be used for treating genetic deafness and sensorineural hearing loss caused by hair cell loss due to overstimulation, aminoglycosides, or infections, he said. As such, gene therapy presents an exciting prospect for future hearing restoration therapies.
At Michigan, Raphael and his colleagues are using combinatorial gene transfer methods to enhance the efficiency of new hair cells and are planning to enhance this approach and include other genes.
We are working on two mouse models for genetic inner ear disease, trying to better understand the biology of the mutation and also to design therapies, he said, adding that the research on therapies has met with mixed results.
Holts lab has focused on development of gene therapy for patients with mutations in TMC1 and for Usher syndrome patients.
We have remarkable data showing full recovery auditory function in some cases, he said. We are working with industry partners to bring these therapies into the clinic.
Meanwhile, in the private sector, companies such as Decibel Therapeutics are also seeking solutions.
According to Laurence Reid, PhD, it is simply a case of seeing the need and seeking to answer it.
The impact of significant hearing loss and balance disorders on individuals is profound and disrupts their connectivity with their human and physical environment, said Reid, the CEO of Decibel. We believe the inner ear represents an exciting new frontier for gene therapy, which will result in a pipeline of transformative medicines.
Reid added that the inner ear is an organ that is exquisitely suited to gene therapy. As such, the therapy can be delivered directly to the relevant cells, which are non-dividing and offer a durable potential for gene therapy. Lastly, the ear has a degree of immune privilege, which will moderate immune response against the therapy.
Said Reid, We are developing technologies that enable precision gene therapy, which will enable us to control the expression of the transgene in the gene therapy and limit the resulting pharmacology to precise cell types in which we intend to elicit a biological response.
Programs are in development to address both hearing loss and balance disorders and our therapies will comprise treatments for genetic forms of hearing loss, together with regenerative medicines, to treat acquired forms of hearing and balance disorders.
Looking ahead at the future of gene therapy as related to hearing loss, Raphael explained that the current technology for gene transfer for inner ear therapy needs to be improved in several cardinal and critical aspects to become a clinical reality.
He added that some of the parameters that need to be optimized include high cell-specificity, control of duration and extent of gene expression (how long and how much), acceptable route for delivering the vectors into the target site, and lack of toxicity and other side effects.
All these parameters are being addressed but still far from being accomplished, he said. Lack of accurate and reliable diagnostic tools, especially related to hair cell loss, also complicate the implementation of gene transfer technology.
Better technology would include upgraded batteries of tests that can predict the condition of the auditory epithelium, auditory nerve and other structures that are needed for biological hearing.
The promise of hearing restoration would become more realistic with these parameters resolved, he said.
Holt also cautioned against expected results tomorrow or the next day.
While hopes are high that this may soon be a therapeutic option for some patients with genetic hearing loss, it is important to keep in mind that a careful and systematic approach will be required to fully understand both the safety and efficacy of this treatment modality, he said. There are at least 100 forms of genetic hearing loss and each will need to be evaluated before use in patients can commence.
Reid further explained the importance of expanding access to genetic testing so families can understand the roots of their childs congenital hearing loss and seek out relevant clinical trials and ultimately tailored therapies.
Noting that accurate diagnosis of infant hearing loss is crucial to developing new treatments and providing clinical care, Reid added that Decibel hasin collaboration with Invitaelaunched Amplify, a sponsored testing program in the U.S. and Australia.
This program provides genetic testing at no charge for children with auditory neuropathy and aims to drive awareness of genetic testing and gain physician interest, as well as support enrollment into future clinical trials, he said.
What does all this mean for audiology professionals?
Holt predicts that audiologists will be an important part of the hearing health care team as this new wave of therapeutic options enters clinical trials, eventually wins approval, and becomes more broadly available.
He added that evaluation of auditory function before and after gene therapy treatments will be critical for understanding the efficacy, durability, and therapeutic window for hearing preservation and restoration.
In preparation for the coming wave, audiologists can understand basic genetics, familiarize themselves with the various genes associated with genetic hearing loss, and be prepared to field patient questions, he said. I suspect that as soon as the first inner ear gene therapies enter clinical trials, there will be an explosion of patient interest and inquiries. However, inner ear gene therapies will not be a magic bullet cure-all. Rather, a precision medicine approach will be required, as these therapies will need to be tailored to each patients specific genetic diagnosis.
Zeng had a similar view and explained that future audiologists will need to learn and understand the genetic component of hearing loss, which contributes half or more to the prevalence of hearing loss.
Dont expect gene therapy to be a silver bullet that can solve all the problems, said Zeng. There are a lot of things that gene therapy cannot solve (i.e., hearing loss related to mental issues).
Raphael made the distinction between audiologists doing research and clinicians, advising those in research to consider joining the research efforts to design diagnostic means that will determine presence/absence of hair cells and/or neurons, and if hair cells are absent, where in the cochlea this condition exists and what state the supporting cells are in.
He added: Are they differentiated or flat? The condition of supporting cells is an important factor in planning the set of genes that will be used to generate new hair cells.
Raphael explained that audiologists in the clinics need to be aware that there are currently no therapies based on gene transfer being offered. In some cases of genetic hearing loss, when the diagnosis is clear and the gene involved is not a very large gene, there is a chance that gene therapy could be offered in the relatively near future.
He added that this is especially true for mutations that affect hair cell, and where the hair cells survive but do not function properly.
I have a feeling that many of the patients asking about gene therapy options are those experiencing age-related hearing loss, which most of us are likely to develop at different speeds of progression, he said. Because many of these cases have long-term loss of hair cells and likely at least some neuronal regression or degeneration, the application of gene therapy would be very complex and challenging.
Reid added that, over the next several years, Decibel hopes that a range of pharmaceutical interventions will become available to people with hearing loss and their caregivers.
Audiologists will thus have therapeutic options in addition to the existing devices, which assist hearing improvement, he said. Diagnosis of particular forms of hearing loss will expand to include broader consideration of genetic mutations responsible for hearing loss.
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Gene Therapy for Hearing Loss on the Horizon : The Hearing Journal - LWW Journals
‘Give A Spit’ About Your Health in 2022 – PRNewswire
NEW YORK, Dec. 30, 2021 /PRNewswire/ -- Jscreen.org, a national nonprofit that provides accessible and affordable genetic testing, education, and personalized support to help people and their families take control of their health, announces the 'Give A Spit" campaign that debuts with a New York Times Billboard on December 31, 2021. The campaign breaks with the New York Times Billboard and will continue with a robust social media campaign.The campaign also runs on http://www.jscreen.organd JScreen social media channels. The JScreen.org mission is to create healthy futures by preventing genetic diseases. And this year, they are calling out to people to help spread that message.
The goal of the billboard and social media 'Give A Spit" program is to get people to use #giveaspit and film their own video spitting into a cup. The program debuts on New Year's Eve with the Times Square billboard at 45th and Broadway and leads into a 2022 social media challenge. JScreen is calling to help raise awareness for genetic testing and its life-saving power. It's simple. Go to JScreenInstagram page @GetJScreened or use the QR code in the billboard:
1. Follow @getjscreened 2. Record a video of you spitting in a cup and why you "give a spit."3. Post it to your stories with the #GiveASpit and tag @getjscreened4. Tag and nominate three friends to Give a Spit, too.
For more information, visit jscreen.org/specialoffer
"Our #1 goal is to create a healthy future by preventing genetic diseases through genetic screening and education. In 2022, says Hillary Regelman, Director of National Outreach and Marketing at JScreen. "We are asking for your help in making that future a reality by raising awareness and showing your support for the life-saving power of genetic testing," adds Regelman.
#genetictesting #NewYearsEve #NYE2022 #getjscreened #nonprofitInstagram page @GetJScreened through the QR code in the billboard
The advertising and social media project is being created in cooperation with JIB Sheet Partners, a digital ad agency located in New York.
Whey this matters --Did you know?
The JScreen test on saliva screens for over 200 hereditary diseases and 60+ mutations associated with certain types of cancer. By creating awareness for genetic testing, JScreen.org can help more families turn their dream of having healthy children into a reality and provide others with life-saving information for early detection and prevention of many hereditary cancers.
About JScreen.
JScreenis anational non-profit public health initiative dedicated to preventing genetic diseases and cancercommon in the Jewish and other populations.Headquartered in Atlanta at Emory University School of Medicine, theJScreeninitiative provides convenient at-home access to cutting-edge genetic testing technology, patient education, and genetic counseling services.JScreenbelieves the combination of education, access to premier genetic screening technologies, and personalized, confidential support are the keys to preventing devastating diseases.
JScreenunderstands the importance of giving people a heads up if theyhave a hereditary risk for cancer.This not-for-profit home education andgeneticscreeningprogramstarted in 2013 withreproductive genetic testingcalledReproGEN andnow tests forrisk forover40 types ofhereditarycancerwith the addition oftheCancerGENtest.
One ofJScreen'sgoals is to make testing affordable.ReproGENcurrently costs $149, andCancerGENis$199.JScreenalso offersneed-basedfinancial assistance.
The proof ofJScreen'spassion for saving lives is in the incredible stories they hear, the healthy babies born, and the peoplewhocannowtake action to avoid a cancer diagnosis. As theJScreenteam likes to say "we are a small team with a huge footprint."
JScreen'sprogram is led by medical professionals at an academic medical center. It provides medical-grade testing that is used in doctor's officesin addition to specialized genetic counseling follow-up by phone orvideoconferencingfor people who are identified as carriers.
Please visitJScreen.orgfor more information.
For media interviews and more information, contact: Stacey Bender [emailprotected]973-650-1218
SOURCE JScreen.org
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'Give A Spit' About Your Health in 2022 - PRNewswire
Research Report on Genetic Testing Services Market Size 2021-2026 Industry Share and Demand Analysis of Key Players Industrial IT – Industrial IT
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Direct Access Genetic Testing Market Size 2021 Analysis by Top Companies, And Forecast to 2028 | 23andme,Myheritage,Labcorp,Myriad Genetics …
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Evolution Of IVF: 5 cutting-edge techniques you need to know about – Hindustan Times
When we think of cutting-edge technology, especially in the field of reproductive medicine, IVF promptly comes to mind. But as recent as this medical advent might seem, the truth is that IVF or in-vitro fertilisation is over 40 years old. And in these past four decades, science has moved ahead by leaps and bounds.
In fact, in the past few years, science has evolved so much that IVF is no longer the most advanced technology out there. Many new techniques suited for couples who cant be helped by traditional IVF exist. And thats exactly what were exploring today with the help of fertility specialist Dr S.Vyjayanthi, who has more than 20 years of experience and has performed more than 10,000 cycles of IVF. She has also several publications to her credit and has been providing fertility services at KIMS Fertility Centre, Secunderabad for more than a decade. Here, shes shedding light on some of the latest technological interventions in the field of fertility and IVF that you need to know about.
1. ICSI
Think of ICSI or intracytoplasmic sperm injection as a technique that is a notch more advanced than traditional IVF. Explains Dr Vyjayanthi: In IVF, we mix the sperm and egg in a dish in the lab, and the sperm gets inside the egg on its own to facilitate the process of fertilisation. Whereas in ICSI, one single sperm is injected into the egg using a big machine called micro-manipulator.
While in both cases the embryo is fertilised outside the womb, in a lab, the difference might not seem like much to laypeople. But in certain cases, ICSI can be a godsend. ICSI is mainly meant for men who have a very low sperm countanything less than 10 million per ml. In these men, fertilisation doesnt happen with straightforward IVF, she adds. For men with azoospermiawhere there is no sperm in the ejaculate and sperm has to be extracted surgically from the testesICSI process is used to make the embryo.
But male factor isnt the only indication for the use of ICSI. Dr Vyjayanthi suggests that in couples presenting with unexplained fertility (where all tests are normal, and yet the couple cant conceive), this technique can help achieve pregnancy too.
That said, with ICSI you also need to move ahead with caution and choose the doctor and clinic. Because it is a highly technical process, it involves a lot of expertise of the embryologist. So he/she has to be really very good to get good results with ICSI, she stresses.
2. IMSI
Also known as intracytoplasmic morphologically selected sperm injection, IMSI is the more technologically advanced version of ICSI. Here, the sperm is magnified six thousand times as opposed to ICSI where we magnify the sperm four hundred times to be able to put the most viable sperm inside the egg, explains Dr Vyjayanthi.
Much like ICSI, IMSI is employed for couples where the male partner has poor quality sperm to get better results. Whenever we surgically retrieve sperm from the testes, we prefer IMSI so as to make a better sperm choice, she adds.
3. Egg freezing
Egg freezing isnt unheard of. With celebrities like Diana Hayden opting for egg freezingand using their frozen gametes to get pregnantthere is much that has been said and done about this technique. But before you write off egg freezing as a celebrity-driven trend, know that it has plenty of real-world benefits.
Egg freezing is usually done for two purposes. First, for oncology purposes where women who are unmarried and are going to undergo chemotherapy are advised to opt for it so as to preserve fertility, explains Dr Vyjayanthi. Then there is social egg freezing that most of us are already aware of. Women in their late 20s or early 30s who are unmarried can have their eggs frozen. But this has to be done at the right time to get the benefits. If you opt for it in your late 30s or early 40s, youve already missed the boat, she stresses.
4. Embryo freezing
Not just eggs and spermembryos can also be frozen to be used for later use. And when it comes to freezing technology in IVF, the sciencecalled vitrificationhas advanced enough in the past decade to guarantee 95 to 99% success (when it comes to embryo quality) upon thawing.
But is there any need for frozen embryos in IVF? Well, explains Dr Vyjayanthi: Frozen embryos are definitely beneficial for a specific group of women, especially women with polycystic ovaries who have lots of eggs. When these women are stimulated with drugs, they produce more eggs and run the risk of hyperstimulation. So when we freeze their embryos and put them back in the next cycle, that risk is reduced.
Embryo freezing also provides an efficient solution for surplus embryos. Lets assume someone has made four good embryos and we have implanted two. The remaining two can be frozen, so that they can come back again, later on, to use the embryos for later on to complete their family, the expert explains.
5. Genetic testing of embryos
To rule out the risk of hereditary diseases, genetic testing of embryos is donewith technology so advanced that the embryo is not disturbed or damaged one bit. Explains Dr Vyjayanthi: There are two types of genetic testing. PGT-A or pre-implantation genetic testing for aneuploidy, where the embryos are checked to see whether they are chromosomally normal or not. We offer this to women who have had frequent miscarriages and/or are of advanced maternal age.
Yet another type of testing that is employed is PGD or preimplantation genetic diagnosis. This is used when either the male or female partner has a genetic disease in the family. So, we screen the embryos and implant only the normal ones, she adds.
While traditional PGT-A and PGD are tried-tested methods that have been used for years, the latest advancement in the field of genetic testing of embryos is minimally invasive. For the past few months we have been using PGT-A on spent culture media of the embryos. Simply put spent culture media is the solution in which the embryos are cultured in the lab for five days before being placed in the womb. While sitting in that media, embryos shed some cells which are then tested for chromosomal defects. The advantage with this technique is that it is non-invasive and causes no damage to the embryo, concludes Dr Vyjayanthi.
Read more:
Evolution Of IVF: 5 cutting-edge techniques you need to know about - Hindustan Times
Should You Invest in Invitae Right Now? – The Motley Fool
Genetic testing company Invitae (NYSE:NVTA) has seen its shares tumble from their highs despite aggressively ramping up its test volumes this year. The company is at the center of integrating genetics into healthcare, and this space still has so much potential.
However, sometimes a good story doesn't make for a good investment idea. Investors could buy the dip on Invitae, but they shouldn't ignore a major hang-up on its business model. Here is what you need to know.
Invitae generates revenue by administering genetic tests while steadily also building a genome information database over time. The more tests it administers, the larger and deeper its data is, which it can eventually leverage to create new opportunities to help patients and generate new revenue streams.
Image source: Getty Images
2021 has seen a big step forward in the number of genetic tests it administers. Its billable volume in the third quarter of 2021 surged 89% to 296,000 tests, driving revenue up 66% year over year to $114 million.
NVTA PS Ratio data by YCharts.
If the company is performing, why has the stock fallen? Growth stocks across the broader market were popular in early 2021, including Invitae, which sported a price-to-sales ratio of 24 -- well above where it's traded over most of the past five years. That valuation has since dropped dramatically to just over 8, and the shares have fallen more than 70%. This isn't just a dip -- this is a collapse. The result is a stock that is now much more reasonably priced.
However, Invitae has yet to progress toward generating free cash flow despite ramping up its business for more than five years in the public markets. The more Invitae generates in revenue, the more its free cash flow losses grow as well.
NVTA Revenue (TTM) data by YCharts.
Here's the problem. Invitae brought in $114 million in third-quarter revenue but spent almost as much ($93 million) on research and development and another $109 million on selling, general, and administrative costs. In other words, the costs to operate the business were 176% of revenue, which is worse than Q3 2020 when operating costs were 149% of revenue.
A young company often loses money as it invests for growth, but at some point the business needs to outgrow its expenses and begin generating free cash flow. Otherwise, the business model doesn't work.
It's too early to say that Invitae's business can't work, but years of losses have caused the company to repeatedly raise money by issuing new shares of stock. This is common for companies in their growth stage, and the key for investors is that as a company begins to generate cash flow, it no longer needs to issue shares to fund growth.
We can see below that the number of Invitae's outstanding shares has nearly quadrupled over the past five years. When a company issues new shares, the existing shares are worth less. Think of it as a pizza cut into four slices, and then cut two more times to make 16 slices. The pizza didn't get bigger; the slices just got smaller.
NVTA Shares Outstanding data by YCharts.
Investors need to consider the company's repeated equity raises before buying the stock. Dilution hurts investor returns because it lowers the amount of earnings per share (EPS). The company could be making more money, but if it keeps issuing shares, the stock might remain stagnant if the new shares keep EPS from growing.
Invitae has $1.2 billion in cash after burning through $148 million this past quarter, so the company shouldn't need to raise more funds in the near future. However, investors who buy the dip on Invitae will need to monitor how quickly the business is burning cash to determine whether shareholders remain at risk of dilution.
This article represents the opinion of the writer, who may disagree with the official recommendation position of a Motley Fool premium advisory service. Were motley! Questioning an investing thesis -- even one of our own -- helps us all think critically about investing and make decisions that help us become smarter, happier, and richer.
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Should You Invest in Invitae Right Now? - The Motley Fool
New Laws Take Effect Jan. 1 in DC, Maryland and Virginia – NBC4 Washington
New laws go into effect in the D.C. area on Saturday, Jan. 1, 2022 related to plastic bags, leaf blowers, disposable utensils, car insurance and more. Heres a rundown.
Gas-Powered Leaf Blowers: In an effort to reduce noise, the use and sale of gas-powered leaf blowers will be banned in the District starting Jan. 1, 2022. A new law says any individual or company caught using one of the leaf blowers can be subject to fines of up to $500.
Violations can be reported to the Department of Consumer and Regulatory Affairs. Video and audio evidence of violations can be submitted but will not be required.
Rebates for electric equipment for residential and commercial use are available. Go here for more info and answers to frequently asked questions.
Disposable Utensils and Food Service Waste: D.C. restaurants will be banned from automatically handing out disposable utensils, napkins and condiment packets with orders, starting on Jan. 1, 2022. Restaurants and other food-serving entities must give out these items upon request or have them in a self-serve area so customers can take them. The requirements apply to in-person, online and mobile orders. Go here for more info.
Vaccination Entry Requirement: Later in the month, starting Jan. 15, D.C. will require people age 12 and older to provide proof of vaccination against COVID-19 in order to enter restaurants, bars and nightclubs. As News4 previously reported, the requirement will apply to movie theaters, concert venues, gyms, yoga studios and shared work facilities.Go here to see the order by Mayor Muriel Bowser.
Minimum Wage:The minimum wage in Maryland will increase.On Jan. 1, the rate will go up to $12.50 for people working for employers who have 15 or more employees. It will increase to $12.20 for those working for employers with 14 or fewer employees.
Organ Donation: Maryland residents who choose to be organ donors while registering for their drivers' licenses on or after July 1, 2022 will have the option to decide if they would like their organs to go to research and education or to transplantation and therapy. Motor vehicle administration locations must provide drivers with information about each choice. Any organs donated before July 1 from previously registered donors can only be used for transplantation or therapy.
Genetic Counselors: A new law requires the Maryland Board of Physicians to license genetic counselors and to establish a Genetic Counseling Advisory Committee within the board. Genetic counselors give patients and families information about genetic testing and how genetic conditions could affect them.
Minimum Wage: Statewide, the hourly minimum wage will increase to $11 an hour on Jan. 1, 2022.
Special ID for Undocumented Residents:Starting Jan. 3, undocumented residents of Virginia can apply for a special identification card at the Department of Motor Vehicles. Undocumented children are also eligible to receive an ID.The legislation was sponsored by Del. Elizabeth Guzmn.
In January 2021, undocumented drivers in Virginia became eligible to apply for a special driver's permit calleddrivers privilege card.According to estimates, over 300,000 people could benefit.Read more here.
Plastic Bag Tax: Locally, the city of Alexandria, Arlington County and Fairfax County adopted a 5-cent tax on disposable plastic shopping bags such as those found at grocery stores, convenience stores and drug stores. The tax will affect shoppers and will take effect in all three jurisdictions on Jan. 1, 2022.
Revenue collected will help fund "environmental cleanup, providing education programs designed to reduce environmental waste, and mitigating pollution and litter." The law does not ban plastic bags.
Local Elections Schedule: Statewide, municipal elections for city council and school board in Virginia will be moved from May to November, beginning with elections held after Jan. 1, 2022.
Virginia Residential Property Disclosure Act: Is your home at risk of flooding? Homeowners in Virginia who know that their property is a "repetitive risk loss structure" must disclose that fact to the purchaser of their home by using a form provided the Real Estate Board.
The state defines "repetitive risk loss structure" as any home that has two or more claims of more than $1,000 that were paid by the National Flood Insurance Program since 1978.
Inhalers in Public Schools: Virginia schools will change the way they treat students with asthma.
In the new year, local school boards are required to create and adopt policies to allow certain school employees to administer stock albuterol inhalers to students believed in good faith to be in need of such medication.Under the law, those administering the medication will be exempt from any liability.
Students with asthma or anaphylaxis, or both, will also be allowed to possess and self-administer "inhaled asthma medications or auto-injectable epinephrine."
Motor Vehicle Liability Insurance: There will be increases to liability insurance coverage amounts for policies effective between Jan. 1, 2022 and Jan. 1, 2025.
Coverage amounts will increase from $25,000 to $30,000 in "cases of bodily injury to or death of one person." And from $50,000 to $60,000 in "cases of bodily injury to or deathof two or more persons." Details on the amounts can be found here.
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New Laws Take Effect Jan. 1 in DC, Maryland and Virginia - NBC4 Washington
New population of white-handed gibbons discovered – Earth.com
The National Wildlife Rescue Center (NWRC) was established in 2013 in peninsular Malaysia by the Department of Wildlife and National Parks (PERHILITAN). The centers focus is on the rehabilitation of wildlife, including gibbons, for eventual release back into the wild.
The gibbons arrive at the rehabilitation center for various reasons. Some are kept illegally as pets, while others are found in plantations that have been displaced from their habitat.
Near the end of their rehabilitation, gibbons undergo a variety of assessments and procedures, such as genetic testing. This is partially an effort to identify subspecies for a successful and responsible reintroduction of the gibbons.
While checking the genetics of 12 captive white-handed gibbons at NWRC, experts made an exciting discovery. A team including Dr. Jeffrine J. Rovie-Ryan from University Malaysia Sarawak, and Millawati Gani and colleagues from the National Wildlife Forensic Laboratory of PERHILITAN, identified a genetically distinct population of gibbons new to science.
The researchers found unusual mutations in the gibbons DNA, which led them to the conclusion that these animals had been evolving in isolation.
Given the prolonged isolation, it is likely that the southern population has undergone some local speciation, but this finding should be regarded as preliminary and requires further investigation, explained Dr. Rovie-Ryan.
The gibbons in the study have not yet been released but are in pre-release at a semi-wild enclosure on Pulau Ungka (Gibbon Island) where they are being closely monitored. Without the dedicated work of PERHILITAN, and without genetic testing, this population of gibbons may have remained unknown for many years. With more research, additional information about the genetics of gibbons is likely to turn up.
The findings are published by Pensoft in the open access journal ZooKeys.
By Zach Fitzner, Earth.com Staff Writer
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New population of white-handed gibbons discovered - Earth.com
Elizabeth Carr, first person in the US conceived through IVF, turns 40 years old – wgbh.org
Forty years ago this week, a couple from the Central Massachusetts town of Westminster, Judith and Roger Carr, had a baby girl named Elizabeth. She was the first child in the United States to be conceived via in vitro fertilization. Elizabeth Carr joined Judie Yuill on GBH's All Things Considered to talk about her life, how it all began and how she remains involved in the in vitro community. This transcript has been edited for clarity and length.
Judie Yuill: So I should start by saying "Happy birthday." It was yesterday, right?
Elizabeth Carr: It was. The entire world knows I am now 40 years old.
Yuill: What is that like?
Carr: Well, you know, my inbox was flooded, and I got a lot of lovely messages. It's a little bit surreal every birthday.
Yuill: I bet it is. Now, tell us how your parents came to rely on in vitro fertilization.
Carr: So my parents basically had trouble staying pregnant. My mother had something called three ectopic pregnancies. And as such, she had to have her fallopian tubes removed, which meant that the normal way of having a child was impossible. And when she was at her OB-GYN, she went in for a routine checkup after her fallopian tubes were removed. And he said, "Well, I don't know if this might be something for you, but I just came back from a conference and learned about something that was successful in England called in vitro. Maybe you should check it out." And that was it.
Yuill: So you're from Westminster, but you were actually born in Virginia, in part because in vitro fertilization was illegal in Massachusetts at the time. Why was that?
Carr: That's right. So essentially because IVF was a brand new, unknown technology that only had been successful in England. There was no public funding for IVF. And so any clinic that wanted to start and operate basically had to jump through a ton of hoops and had to be entirely privately funded. Actually, a former patient of my doctor, Georgiana Jones, is the reason that a clinic was even started at all. She actually donated just the right amount of money in order to form a clinic in Virginia.
Yuill: Now, sometimes people like you are referred to as "test tube babies," but that's not accurate, is it?
Carr: No, and it's a term I wish would go away forever and never come back. It's inaccurate because no test tubes are used at all. Actually, the term "in vitro" comes from the Latin under glass, which, you know, the procedure essentially is done in a petri dish. And so I always kind of laughed that the term test tube baby stuck because it's such a wildly inaccurate term.
Yuill: And I understand you're still very much a part of the in vitro community.
Carr: Yes, absolutely. So my day job is as a patient advocate at a pre-implantation genetic testing company called Genomic Prediction. Kind of by sideline, if you will, I have a book coming out in January about my life experience, and [I am] a patient advocate for organizations such as Resolve, the national infertility association.
Yuill: Now you've got to tell us the title of your book.
Carr: Oh, it's called "Under the Microscope" because my first "baby photo" is at 3 cells old under a Nikon microscope.
Yuill: That's pretty unique.
Carr: Yeah, absolutely. It's an interesting one to explain to friends. When they come over, they all go, "What are those three blobs?"
Yuill: That's your baby photo. That's right. Now what does your life seem like and look like now, 40 years later?
Carr: You know, it's pretty normal. You know, I just try and keep up with my 11-year-old son and my very busy and talented husband, who is a photographer and our dog. And we live a quiet life here in New Hampshire. I try to always make time for people who are struggling with infertility because I want to make sure that they know what options are out there. IVF is not the only option that's available, and it's so important for people to know about what they can do.
Yuill: But what's it like for you to know you played such a big role in helping people have the babies that they've been longing for?
Carr: My running joke is that I just showed up. I didn't do anything. My parents and the doctors and all of the people involved really did the heavy lifting. I am so humbled that I have the privilege of hearing people's very personal and painful stories when they're experiencing infertility. And to me, my parents and I have always lived by the philosophy that we wanted to tell our stories so that if it would help just one other person, then this lifelong lack of privacy essentially would be worth it.
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Elizabeth Carr, first person in the US conceived through IVF, turns 40 years old - wgbh.org
Brad Schaeffer of MedComp Sciences on Genetic Testing in the News – OCNJ Daily
MedComp Sciences is a company that provides DNA-based medical testing services to clinical healthcare providers. Brad Schaeffer is the Founder of MedComp Sciences and below he discusses a few instances of genetic testing and DNA making their way into the news.
For those who are unfamiliar, genetic testing refers to the process of sequencing human DNA to discover genetic mutations, anomalies, or differences.
The world of genetic testing is extremely varied, being used for everything from medical diagnostic purposes to solving cold cases. Recent breaking news stories have shone a light on the benefits and fascinating nature of this advancing science.
John Wayne Gacy was an infamous serial killer who operated in the Chicago area during the 1970s. Gacy was caught and arrested in 1978 when authorities discovered 29 bodies of young men and boys buried underneath his home. Until 2011, there were eight remaining unidentified victims. Gacy stacked these bodies one on top of the other. Due to his burial ritual, investigators could only determine who died first. Other than this, they didnt even have a timeline available to start tracking missing person cases.
Up until just a few days ago, Francis Wayne Alexander was one of those unidentified victims. After losing touch with Alexander in the late 1970s, his North Carolina-based family simply thought he had cut off communication with them and continued to live his life in Chicago.
After more than 40 years, Francis Wayne Alexander has now been confirmed as the fifth victim of Gacy following a breakthrough in testing the genetic evidence.
In 2011 a large-scale effort was made to begin genetic testing the then eight unknown Gacy victims. Each victim was exhumed and genetically tested. Once the DNA profiles were gathered, the investigation team put out a nationwide call. The group asked for any individuals who had male relatives disappear in or around Chicago in the 1970s to come forward. The newfound genetic profiles could now be compared to relative DNA samples to determine if any of the victims matched.
Within weeks of this new effort, William Bundy, then 19-years-old, was identified through genetic testing as a victim of Gacy. In 2017 Jimmy Haakenson, who was only 16-years-old when he disappeared, was identified. And now Francis Wayne Alexanders family has received the closure they deserve.
Police have expressed their appreciation of this genetic testing. Alexander would have never been considered a victim of Gacys without this testing. Previously, the only information on Alexander available were a few traffic tickets, the last of which was issued in January 1976. He also didnt fit the typical victim profile, so its unlikely that even if his family did report him missing, they could have made any connection.
While Haakenson and Bundys families responded to the initial request to submit their DNA, Alexander was identified through a genetic testing organization called the DNA Doe Project. This organization worked closely with the sheriffs office to compare DNA profiles of unknown victims to profiles on genealogy websites. This would ideally match the unidentified victim to potential relatives, giving detectives a place to begin the investigation. Once a match is believed to be found, living relatives are asked to submit DNA samples to verify results.
In addition to identifying Gacys three unknown victims, DNA submissions helped solve at least 11 cold cases of homicides, none of which had any connection to Gacy. Several families were also able to find relatives who were still alive, although still considered missing.
According to a recent report by Qualiket Research, the global genetic testing market is expected to enjoy a substantial amount of growth in the next six years or so, growing from $7,985 million in 2020 to an impressive $15,127 million by 2027.
Brad Schaeffer of MedComp Sciences says that growing advancements in technology have increased the opportunity for market expansion and a focus by various governments to both create awareness and regulation of genetic tests.
Newborn and prenatal genetic testing has seen the most success, boasting the highest revenue in 2020. This trend is expected to continue over the next few years.
November 2020 also saw the expanded approval of cancer blood tests, also referred to as liquid biopsy, by the Food and Drug Administration. This type of genetic testing can detect genetic changes in tumor DNA through the blood, helping patients match potential treatments.
News revolving around genetic testing will continue to roll in, according to Brad Schaeffer of MedComp Sciences, especially as the industry and related technology grow. With new advances in methods and increased availability, its no wonder that such a projected increase in growth for the field and new applications is being predicted.
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Brad Schaeffer of MedComp Sciences on Genetic Testing in the News - OCNJ Daily
The market for Europe hereditary genetic testing is predicted to grow at a CAGR of 13.34% during the forecast period 2021-2031 – Yahoo Finance
Europe Hereditary Genetic Testing Market to Reach $19. 31 Billion by 2031. Market Report Coverage - Europe Hereditary Genetic Testing Market Segmentation.
New York, Nov. 02, 2021 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Europe Hereditary Genetic Testing Market - A Regional Analysis: Focus on Products, Sample Type, Applications, and Nordic and Baltic Region, Country Data (12 Countries), and Competitive Landscape - Analysis and Forecast, 2020-2031" - https://www.reportlinker.com/p06178588/?utm_source=GNW
Product Kits, Consumables, Services, Others Sample Type Tumor Tissue, Bone Marrow, Blood, Saliva, Others Application Oncology Genetic Testing, Cardiology Genetic Testing, Neurology Genetic Testing, Newborn Screening, Prenatal Screening and Preimplantation Testing, Rare Disease Testing, Direct-to-Consumer (DTC) Testing
Regional Segmentation
EU5: Germany, U.K., France, Italy, Spain Nordic Region: Finland, Sweden, Denmark, Norway Baltic Region: Estonia, Lithuania, Latvia
Market Growth Drivers
Increasing Awareness Toward Hereditary Genetic Testing Rising Prevalence of Genetic Disorders Increasing Research Funding in the Field of Genomics
Market Challenges
High Cost of Genetic Testing Stringent Regulatory Standards
Market Opportunities
Technological Advancements in the Hereditary Genetic Testing Process Growing Demand for Direct-to-Consumer (DTC) Testing Service
Key Companies Profiled
Agilent Technologies, Inc., Woble Helsinki Oy, Negen Oy, Devyser, CeGat GmbH, Beijing Genomics Institute (BGI), BerGenBio ASA, Eurofins Scientific SE, F. Hoffmann-La Roche Ltd, Illumina, Inc., Myriad Genetics, Inc., Alnylam Pharmaceuticals, Inc., Quest Diagnostics Incorporated, Thermo Fisher Scientific Inc.
Key Questions Answered in this Report: What is the current trend in the Europe hereditary genetic testing market? Based on products, which segment is anticipated to witness a massive rise in demand during the forecast period 2021-2031? Based on sample type, which segment is anticipated to witness a massive rise in demand during the forecast period 2021-2031? Based on types of testing, which segment is anticipated to witness a massive rise in demand during the forecast period 2021-2031? Based on countries, which country is anticipated to witness a massive rise in demand during the forecast period 2021-2031? What are the major drivers, challenges, and opportunities in the Europe hereditary genetic testing market? What are the key developmental strategies implemented by the key players to stand out in this market? Which leading companies are dominating the Europe hereditary genetic testing market, and what is the share of these companies in the Europe hereditary genetic testing market? What are the regulations pertaining to the Europe hereditary genetic testing market, and what initiatives have been implemented by different government bodies regulating the development and commercialization of Europe hereditary genetic testing? How is each segment of the Europe hereditary genetic testing market expected to grow during the forecast period, and what will be the revenue generated by each of the segments by the end of 2031? How is the market for Europe hereditary genetic testing expected to evolve during the forecast period 2021-2031? What is the market scenario for the Europe hereditary genetic testing market in different countries? What are the key trends of different regions in the Europe hereditary genetic testing market? Which country is expected to contribute to the highest sales in the Europe hereditary genetic testing market during the forecast period 2021-2031?
Market Overview
Genetic testing is a type of DNA testing used to determine changes in chromosome structure or DNA sequence.Genetic testing can also include measuring the outcomes of genetic modifications, such as mutation, RNA analysis as an output of gene expression, or biochemical analysis to measure specific protein output.
For cancer risk, genetic testing includes testing for inherited genetic variants that can be associated with a high to moderately increased risk of cancer in the patient and are responsible for inherited cancer susceptibility syndromes.
Hereditary genetic testing classifies changes in chromosomes, genes, and proteins.The outcome of hereditary genetic testing authorizes a suspected genetic condition that further helps to determine a persons chance of passing or developing a genetic disorder.
To date, more than 1,000 hereditary genetic tests have been used, and many others are being developed for testing.
Europe is one of the powerhouses for genomic science and research.Genetic testing data sharing is becoming an integral part as scientists join forces across borders for enabling genetic testing for the benefit of mankind.
Genetic testing can be performed for various purposes, which may or may not fall in medical science.Thus, regulatory needs depend on the context of the test being performed and for which purpose.
It can be either to detect monogenic diseases, medical-nonmedical purposes, predispositions or carrier tests, diagnostic and treatment purposes, predictive tests for late-onset diseases, drug response, family planning, forensics, population screening, and DNA profiling or research.
With several companies eagerly competing to establish dominance in the Europe hereditary genetic testing market, several emerging companies have undertaken significant activities to establish their position in the market. Although these companies are currently far behind the market leaders, some of them have made significant strides to grow into major players, owing to initiatives undertaken to expand their respective product portfolios and regional footprints.
BIS healthcare experts have found hereditary genetic testing to be one of the most rapidly evolving markets. The market for Europe hereditary genetic testing is predicted to grow at a CAGR of 13.34% during the forecast period 2021-2031. As per BIS research, hereditary genetic testing comprises the ecosystem of multiple services offered, products used, and the target population.
The optimistic scenario of the market can be witnessed if the COVID-19 recovery is swift across key countries in Europe.The scenario assumes an increasing demand for technology, products, services, and growth in the end-user base across regions.
Furthermore, the scenario also assumes more product and service launches for genetic testing, especially in the Nordic and Baltic regions. Additionally, the companies in the market are investing more in rare disease and reproductive genetics, which is one of the bolstering factors for optimistic growth.
The following report presents the reader with an opportunity to unlock comprehensive insights with respect to the Europe hereditary genetic testing market and helps in forming well-informed strategic decisions. The market research study also offers a wide perspective of the different types of hereditary genetic testing products and services available in the market and their impact on the diagnostic and genomics industry by providing critical insights into the direction of its future expansion.
The Europe hereditary genetic testing market has been growing since its inception. Several European countries, including Germany, France, the U.K., Italy, Spain, Denmark, Finland, Sweden, Norway, Estonia, Lithuania, and Latvia, are working persistently to enhance the adoption of precision medicine solutions, including hereditary genetic testing market, across Europe region. Acknowledging the unique role of hereditary genetic testing is a significant step toward the establishment of a suitable and effective regulatory approval procedure, coupled with an effective pricing strategy and reimbursement policy. However, country-specific technology evaluation and reimbursement policies in Europe may result in different coverage for many genetic testing technologies across Europe. For instance, in France, Germany, Italy, and the U.K., HER2 testing is publicly funded. However, in Spain, the majority of NGS testing is funded by hereditary-based test manufactures. Therefore, companies are trying to work closely with the payers and other decision-makers to increase the adoption on a country-by-country, and in few cases, hospital-by-hospital basis, which generally limits accessibility and results in a poor adoption rate.
Germany accounted for the maximum share of the market within the Europe region in 2020.The country has one of the biggest pharmaceutical markets in Europe.
Further, it is among the largest exporter of medicinal products and ranks among the top pharmaceutical producers globally.The growth in this region can be primarily attributed to the rising pharmaceutical R&D expenditure, increasing geriatric population coupled with growing disease prevalence, and the rising focus to eradicate rare diseases across the region.
However, the region also faces high competition from the Asian economies that offer cheap manufacturing materials and low cost of labor.
Within the research report, the market is segmented based on products, sample type, applications, and region.Each of these segments has been further categorized into sub-segments to compile an in-depth study.
Each of these segments covers the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.
Competitive Landscape
The Europe hereditary genetic testing market is largely dominated by companies such as Woble Helsinki Oy, Negen Oy, Devyser, CeGaT GmbH, Beijing Genomics Institute (BGI), BerGenBio ASA, Eurofins Scientific SE, F. Hoffmann-La Roche Ltd, Illumina, Inc., Laboratory Corporation of America Holdings, Myriad Genetics, Inc., Alnylam Pharmaceuticals, Inc., Quest Diagnostics Incorporated, and Thermo Fisher Scientific Inc.
Companies such as LabCorp, Illumina, Myriad, and Quest Diagnostics are the leading suppliers of genetic testing products and services in the Europe market.When compared to the other European countries, the Nordic and Baltic region is mainly dominated by Bluprint Genetics (Quest Diagnostics) and Eurofins.
In addition, regional players such as Devyser, CeGat GmbH, and Negen Oy offer products in the markets.
Among the Nordic and Baltic regions, the Nordic region contributes more to the Europe hereditary genetic testing market.The country which performs the largest number of genetic tests in the Nordic region is Finland.
A lot of investment in research for characterization of the population for rare diseases has been made in Finland by Blueprint Genetics.
Countries Covered EU5 Germany U.K. France Italy Spain Nordic Region Finland Sweden Denmark Norway Baltic Region Estonia Lithuania LatviaRead the full report: https://www.reportlinker.com/p06178588/?utm_source=GNW
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The market for Europe hereditary genetic testing is predicted to grow at a CAGR of 13.34% during the forecast period 2021-2031 - Yahoo Finance