Archive for the ‘Genetic Testing’ Category

WADSWORTH, Ohio For years, a Medina County woman has wondered about the son she gave up for adoption more than three decades ago.

What does he look like? What does he do for a living? Was he happy?

Well, thanks to the popular DNA genetic testing service 23andMe, she now has those answers and more.

Melanie Pressley was just 18 when she got pregnant with her first child a boy. Her boyfriend at the time wasnt supportive and wanted her to get an abortion. Pressley refused and continued on with the pregnancy.

But eventually, she knew she couldnt keep him.

I just knew, financially, I wouldn't be able to do it. And the other thingI wanted him to have a mother and father, so I decided at that point it was best to put him up for adoption, said Pressley.

With the support of her family, she went through the adoption process with an agency based in Akron.

On June 17, 1988, she gave birth to her son at the then-Timken Mercy Hospital in Canton. She didnt name him because she wanted his adoptive parents to have that honor.

She said that day, she wasnt allowed to hold him, but the next day, her sister asked a nurse if they could hold the baby.

She said, I will take you into a private room so that she can hold him, and she said, Take all the time you need. And at that point, when I was holding him, my sister took a picture and that was the only picture that I had of him for thirty three years. That was the only picture that I had of him, said Pressley.

Pressley has had three more kids since then and is happily married, but she said every day, and especially every time June 17 rolled around, she thought about the son she gave up for adoption.

There was still always a little bit of that sadness in me on that day. And that's basically the easiest way to describe it, said Pressley.

In Winchester, Virginia, 307 miles away from her Wadsworth home, it turns out Pressleys son was thinking of her too.

He was adopted by the Vossler family and named Greg. They lived in Stow for about seven years after he was adopted, and then moved to Winchester.

Maybe nine or 10 or somewhere around that age range, they shared with me the story that I was adopted and that the woman who gave me up for adoption thought I could have a better life elsewhere, said Vossler, who still lives in Winchester.

Vossler said his curiosity wasnt immediate.

Some years later, he found descriptions of his birth parents that were provided from accounts from the hospital, but there werent any names, birth dates, or ages.

Never was really curious. I'd always joke saying, you know, I don't see a celebrity that looks like me, or, No one who's a king or queen in some faraway land resembles me. And I always said that was just my joke. You know, whenever somebody asked, it was just my way of having that quick response in my back pocket, I'd never really given it some serious thought, said Vossler.

But he said it was always in the back of his mind through college, getting married, and raising two sons.

The reason I named my first son Gregory was because he was my first blood relative that I knew. So I wanted to have that bond, said Vossler.

Then, in 2019, he decided he wanted to know more.

My wife and I were sitting and talking one night, and I'm like, I don't know any of my medical history, genetics, you know, where I'm from. And there was a 23andMe promotion or something going on. And so I took the test, said Vossler.

That same year, Melanies mom died, which pushed her to do what shes always wanted to.

It was always my wish that I wanted him to meet my mother, but she passed away. And the night that she passed away, we were all around the table, my nieces, nephews, my sisters and everybody. And we were going around just kind of saying things and it got to me and I had just started crying and I said, I need to find my son, said Pressley.

But that moment didnt come until May 2021, when one of Melanie's daughters bought her a 23andMe test as a birthday gift.

The results came back in just days and with them a match to a potential son named Greg Vossler.

Instantly sent a message, and my first message was, I believe we're related, said Pressley. The next message was, I believe I am your birth mother. And from there it just blew up.

One of the very first questions I asked him, which was big for me, was, Are you happy? And he came back that he wasoh my goshthat he's married, he has two boys. I mean, it was just like spilling everything, said Pressley.

Messages on 23andMe turned into emails and finally texts.

Vossler said they vetted each other thoroughly to make sure the connection was real.

We were very investigative with each other, you know, the hospital where I was born changed the name. So I said, Well, do you remember the hospital where I was born? And she said the name that it was back in 1988. And I was like, OK, alright we got there, and there were a few additional things that I had asked and she answered, she passed the test, said Vossler.

You're just sitting there and it's not something that you can ever prepare for mentally, and the way I would constantly describe it was just a surreal moment, said Vossler.

But when Vossley asked if he could call Pressley, she told him she didnt want to hear his voice until she could see him in person.

So in June, Vossler, his wife Chelsea, and their sons drove to Wadsworth for a weekend.

Both Vossler and Pressley were worried that the connection wouldnt happen, and that it was somehow all a farce, but they were happily mistaken.

Vosslers wife took a photo of when the two saw each other for the first time.

I am so thankful for her for doing that because It was the very first time and it was awesome, said Pressley.

Vossler said he and Pressley talked for four hours straight that first day. He also met 17 members of his new extended family, including two of his siblings, his aunts, and grandfather.

Everyone's emotional, everyone's shaking hands or hugging. And, you know, Hey, I'm your half brother, your half sister. And her oldest sister, who was instrumental in allowing Melanie to have that first picture, came up and grabbed my face. The first time in 33 years that she's seen me, said Vossler.

It's an amazing feeling. And it just goes to show that there's always room for families to grow and always room for more love within each other, said Vossler.

Pressley and Vossler are continuing to nurture their newfound bond. Pressley and her husband, Tim, plan to travel to Virginia this weekend to meet the Vossler family.

Vossler and his family have also been invited to his half-sisters wedding this fall and plans to attend.

I am just excited with the ball moving and I am just going to soak up every moment and just enjoy it. Enjoy the little ones also with every opportunity that we get to see them, said Pressley.

Now, the picture that Pressleys sister took of them 33 years ago in the hospital isnt the only one this mother and son have together.

Life has a funny way of giving you what you need, not what you want. And I guess life just realized that we needed this connection and our families needed each other, said Vossler.

Jade Jarvis is a reporter at News 5 Cleveland. Follow her on Facebook, Twitter, and Instagram.

Download the News 5 Cleveland app now for more stories from us, plus alerts on major news, the latest weather forecast, traffic information and much more. Download now on your Apple device here, and your Android device here.

You can also catch News 5 Cleveland on Roku, Apple TV, Amazon Fire TV, YouTube TV, DIRECTV NOW, Hulu Live and more. We're also on Amazon Alexa devices. Learn more about our streaming options here.

More:
Wadsworth woman finds son she put up for adoption 33 years ago through 23andMe - News 5 Cleveland

BALTIMORE & HOUSTON--(BUSINESS WIRE)--Tesis Labs, a leader in targeted genetic sequencing, and Personal Genome Diagnostics Inc. (PGDx), a leader in cancer genomics, today announced a new collaboration to maximize the power of genetic sequencing and bioinformatics. Through this collaboration, the companies intend to combine resources and expertise to create new genomics solutions that could combat cancer and improve outcomes for patients, and advance market access initiatives to accelerate adoption in the market.

The National Institutes of Health estimates that by 2040, there will be 29.5 million new cancer cases and nearly 16.4 million deaths worldwide per year. This new strategic collaboration brings together highly specialized clinical laboratory and biotechnology teams, enabling their expertise, creativity, and passion for delivering the latest genetic and bioinformatic insights to advance cancer predisposition, profiling, and treatment.

We are excited to partner with PGDx and leverage our aligned vision and collective expertise to enable new and creative clinical opportunities, stated Ron King, Tesis Labs CEO. Genetic sequencing and genetic biomarkers are revealing new opportunities for medicine. Our clinical expertise and approaches to unlocking the power of genetic sequencing are bringing new insights to cancer research, profiling and treatment.

We are thrilled to partner with Tesis Labs, a company that shares our passion for expanding the reach of genetic sequencing through decentralized testing, said Megan Bailey, Chief Executive Officer of PGDx. We look forward to working with Tesis Labs to further progress advancements in genomic insights and patient-centered oncology care.

Tesis uses a genetically integrated medical platform for targeted genetic sequencing and comprehensive genetic data collection to support many medical specialties. The companys existing labs are in Denver, Lafayette, Colo., and Houston.

PGDx currently offers three pan-cancer NGS kitted solutions elio tissue complete, an FDA cleared kit, elio plasma complete, a comprehensive liquid biopsy solution, and elio plasma resolve, which has received FDA breakthrough device designation that provide researchers and clinicians with the ability to identify biomarkers and profile tumors through advanced genomic sequencing within their own hospital systems and laboratories.

About Tesis Labs

Tesis Labs' genetically integrated medical platform has revolutionized targeted genetic sequencing. Our mission is to change medicine by providing physicians, hospitals, and researchers with the tools to help patients treat and overcome major chronic conditions such as heart disease, lung disease, cancer, and diabetes through advanced genetic testing. Tesis offers healthcare providers and physicians access to our unique genetic testing and precision medicine, enabling them to create personalized care plans for treating chronic diseases individually and across generations. We also enable medical device companies and pharmaceuticals to bring new products to market and create a robust repository of genetic data and research. Visit http://www.tesislabs.com to learn more.

About Personal Genome Diagnostics

Personal Genome Diagnostics (PGDx) empowers the fight against cancer by unlocking actionable information from the genome. We are committed to improving clinical insight, speed of results, and healthcare economics by delivering a portfolio of regulated tissue-based and liquid biopsy genomic products for health systems worldwide. PGDx was established by researchers from Johns Hopkins University who are pioneers in cancer genome sequencing and liquid biopsy technologies. PGDxs elio Platform has enabled the development of standardized tissue-based and liquid biopsy next-generation sequencing (NGS) kits for laboratories worldwide, featuring automated bioinformatics that ensures consistent results and quality of testing. By automating the data analysis process, PGDx is enabling the scalability of precision medicine with a fast, reliable, and accurate diagnostics platform. For additional information, visit http://www.pgdx.com.

Read more here:
Tesis Labs and Personal Genome Diagnostics Announce Collaboration to Advance Cancer Profiling and Treatment - Business Wire

Get instant alerts when news breaks on your stocks. Claim your 1-week free trial to StreetInsider Premium here.

DELRAY BEACH, Fla.--(BUSINESS WIRE)--Genetics Institute of America announced today that it has undergone an Accreditation Inspection by the College of American Pathologists (CAP) and passed with no deficiencies.

A team from the College of American Pathologists performed a general laboratory and molecular pathology accreditation inspection on Tuesday, August 10th. The purpose of this inspection is to help laboratories maintain accuracy of test results and ensure accurate patient diagnosis. CAP inspections are a part of the accreditation and inspection cycle.

This successful CAP inspection validates our quality assurance and management practices and ensures that we are providing the best in physician and patient-centered genetic testing services, said Dr. Ana Perez-Miranda, Laboratory Manager for Genetics Institute of America.

Our mission at Genetics Institute of America is to save lives, change lives and give back, said Holly Magliochetti, CEO and Founder. Our Team knows that the work we do has a multi-generational impact, and this CAP accreditation is a very important step to continue to uphold the most stringent clinical laboratory testing standards in molecular and Next Generation Sequencing.

The U.S. federal government recognizes the CAP Laboratory Accreditation Program, begun in the early 1960s, as being equal-to or more-stringent-than the governments own inspection program. According to the CAP, they accredit the entire spectrum of laboratory test disciplines using the most scientifically rigorous customized checklist requirements. These checklists are developed from rigorous accreditation standards that are more stringent than or equal to the requirements of the Clinical Laboratory Improvement Program (CLIA). They are designed to cover regulatory compliance requirements and assist laboratories in achieving the highest standards of excellence for positively impacting patient care.

About the College of American Pathologists (CAP)

As the worlds largest organization of board-certified pathologists and leading provider of laboratory accreditation and proficiency testing programs, the College of American Pathologists (CAP) serves patients, pathologists, and the public by fostering and advocating excellence in the practice of pathology and laboratory medicine worldwide. Built on more than a half-century of experience, the CAPs Laboratory Accreditation Program has been the champion of laboratory excellence. We are recognized as the global leader in improving the quality of services using established performance standards. For more information, READ THE CAP ANNUAL REPORT at http://www.cap.org.

About Genetics Institute of America

Genetics Institute of America is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote longevity and quality of life outcomes by focusing on DNA, RNA and Proteins. Our modern CLIA certified, CAP accredited laboratory facility in Delray Beach, FL specializes in high complexity molecular testing and contains the most current technology, allowing us to provide leadership in both research and clinical laboratory testing. For more information, please visit http://GenlabUS.com.

View source version on businesswire.com: https://www.businesswire.com/news/home/20210812005857/en/

Holly Magliochettimedia@GenLabUS.com

Source: Genetics Institute of America

Read the rest here:
Genetics Institute of America Receives Accreditation from the College of American Pathologists - StreetInsider.com

China in vitro diagnostics(IVD) market is anticipated to grow over US$ 11 Billion by 2025 with an impressive double-digit growth rate in the forecast period 2018 2025.

The market is driven by number of factors such as rising incidences of chronic lifestyle diseases, public health awareness, demand of tests in rural areas stimulated by the healthcare reform plan, increasing demand from the middle class for highend products and an increase in the number of private hospitals and independent testing laboratories.

Get FREE Sample copy of this Report with Graphs and Charts [emailprotected]https://www.trendsmarketresearch.com/report/sample/3888

China In Vitro Diagnostics (IVD) Market Analysis 2012 2017 and Forecast 2018 2025: Clinical Chemistry,Immunoassay,Molecular Testing,SMBG,Point of Care Testing (POCT), Hematology, Coagulation, Microbiology, Genetic Testing, Infectious Diagnostics, Histology and Cytology presents an in-depth assessment of the in vitro diagnostics(IVD) market dynamics, opportunities, future roadmap, competitive landscape and discusses major trends. The report offers the most up-to-date industry data on the actual market situation and future outlook for in vitro diagnostics(IVD) in China. The research includes historic data from 2012 to 2017 and forecasts until 2025.

The report contains a granular analysis of the China in vitro diagnostics market segmentation by 11 applications and illustrative forecast to 2025.A comprehensive analysis has been done on market share of China in vitro diagnostics by application, end-user and company share by revenue.

The report also includes assessment of in vitro diagnostics regulation in China.Key trends in terms of partnerships and recent developments are analyzed with details. The report also explores detailed description of growth drivers,restraints, trends and opportunities of the China in vitro diagnostics market.

Market Segmentation by Application and Analysis (2012 2025)

Clinical Chemistry Immunoassay Molecular Testing SelfMonitoring of Blood Glucose (SMBG) Point of Care Testing (POCT) Hematology Coagulation Microbiology Genetic Testing Infectious Diagnostics Histology and Cytology

Checkout Inquiries to Purchase or Customize the Market @https://www.trendsmarketresearch.com/checkout/3888/Single

The Major Companies Dominating this Market for its Products, Services and Continuous Product Developments are:

Roche Diagnostics Abbott Laboratories Siemens Healthineers Sysmex Corporation Mindray Medical International Limited Beckman Coulter Inc Shanghai Fosun Pharmaceutical Group Thermo Fisher Scientific Inc Hologic Inc Qiagen Cepheid Bio-Rad Laboratories Inc Da An Gene Co. Ltd Shanghai Kehua BioEngineering Co. Ltd.

The Latest Industry Data Included in this Report:

China In Vitro Diagnostics Market Revenue & Forecast (2012 2025) China In Vitro Diagnostics Market Dynamics China In Vitro Diagnostics Market Segmentation by Application (2012 2025) China In Vitro Diagnostics Market Revenue Share by Application (2012 2025) China In Vitro Diagnostics Market, Company Share by Revenue, 2017 China In Vitro Diagnostics Market Share by End-User (Hospitals, Homecare, Research Institutes, Independent laboratories),2017 Assessmentof In Vitro Diagnostics Regulation in China Major Partnership Deals in China In Vitro Diagnostics Market Recent Developments in China In Vitro Diagnostics Market Overview of Key Companies in China In Vitro Diagnostics Market

Get up to 50% discount on this report [emailprotected]https://www.trendsmarketresearch.com/report/discount/3888

Read the original:
China In Vitro Diagnostics (IVD) Market growth graph to witness upward trajectory during 2021-2026 - The Market Writeuo - The Market Writeuo

Zolgensma is a novel drug that was approved by the US Food and Drug Administration (FDA) in May 2019 as an one-time gene therapy for children with spinal muscular atrophy (SMA), said the National University Hospital in an e-mail reply to The New Paper yesterday.

Valued at US$2.125 million (S$2.9 million)for each patient, it is said to be the most expensive drug in the world.

SMA is diagnosed through genetic testing. Besides treatment, patients are usually supported symptomatically, with physiotherapy to manage muscle weakness and prevent complications like contractures.

They are also supported by medical means such as appropriate seating and mobility devices, respiratory support, as well as regular therapy.

"Aside from Zolgensma, other options of treatment for SMA include the use of other drugs and supportive treatment.

"These alternative options for SMA include Spinraza, a recurring therapy given intrathecally every four months, and Risdiplam, an oral medication administered daily," said NUH.

Zolgensma is administered intravenously as a single dose over 60 minutes.

While it has a hefty price tag, the other treatments are also expensive. The Spinraza costs more than $1 million for the five or six injections required in the first year of treatment, and an annual amount of a little over $500,000 for three injections each year subsequently. The Risdiplam oral treatment costs around $460,000 a year.

Zolgensma manufacturer, US-based biopharmaceutical company Novartis Gene Therapies, has stated that the drug is designed to target the genetic root cause of SMA by replacing the function of the missing or non-working survival of motor neuron 1 (SMN1) gene with a new, working copy of a human SMN gene.

Child neurologist Wendy Liew of Dr Wendy Liew Paediatric and Child Neurology Centre said while none of the three FDA-approved treatments for SMA are available in Singapore, they can be imported under the Health Sciences Authority's (HSA) Special Access Route.

On HSA's website, it is stated that the named-patient application allows a licensed hospital or clinic to import and supply an unregistered therapeutic product that presents a life-saving treatment option to the patient whose condition would be clinically compromised without the requested therapy, and that there is no effective alternative therapy registered in Singapore.

TNP understands the approval of such applications usually takes 14 working days and needs to be done before buying the treatment for import.

When asked if any treatment is superior to the others, Dr Liew said: "There are many considerations (when selecting a treatment), such as the age of the patient, the route of administration, the expected benefit, the anticipated adverse effects and the cost of each treatment.

"At the moment, all three treatments have been proven to work, so it is hard to say that one is definitely better than the others."

See the original post:
Hefty price tag for treatment of spinal muscular atrophy - The New Paper

New Jersey, United States,-Verified Market Research recently released a new report titled Cannabis Testing MarketSize Report, Growth and Forecast 2021-2028, Breakdown Data by Company, Key Regions, Types and Applications. The report has been compiled using primary and secondary research methodology that will provide a precise and precise understanding of the Cannabis Testing market. Analysts used a top-down and bottom-up approach to assess the segments and properly assess their impact on the Cannabis Testing market. The report offers a market overview which briefly describes the market situation and major segments. It also mentions the best players represented in the Cannabis Testing market.

The 2021 report offers an in-depth analysis of each sector of this Cannabis Testing industry. Fill in historical Cannabis Testing data according to customer requirements. It offers Cannabis Testing market research globally and locally. The detailed segment and manufacturer information of Cannabis Testing helps guide future benefits and make important decisions for the growth of Cannabis Testing.

Get | Download Sample Copy with TOC, Graphs & List of Figures @https://www.verifiedmarketresearch.com/download-sample/?rid=22449

The report covers extensive analysis of the key market players in the market, along with their business overview, expansion plans, and strategies. The key players studied in the report include:

Shimadzu Corporation, Millipore Sigma, Restek Corporation, SC Laboratories Agilent Technologies Inc., Waters Corporation, PerkinElmer Inc., AB SCIEX LLC, CannaSafe Analytics and Steep Hill Labs.

Cannabis Testing Market Segmentation

Cannabis Testing Market, By Product And Software

Products Software (Cannabis LIMS)

Cannabis Testing Market, By Service

Potency Testing Pesticide Screening Heavy Metal Testing Genetic Testing Others

Cannabis Testing Market, By End-User

Laboratories Drug Manufacturers

In the next chapters, the research report reveals the development of the Cannabis Testing market segments. Analysts have segmented the market on the basis of product, application, end-users, and geography. Each segment of the Cannabis Testing market has been studied with in-depth insight. Analysts have evaluated the changing nature of the market segments, growing investments in manufacturing activities, and product innovation that are likely to impact them. In terms of geography, the report studies the changing political environment, social upliftment, and other government initiatives that are expected to contribute to the regional markets.

Get Discount On The Purchase Of This Report @ https://www.verifiedmarketresearch.com/ask-for-discount/?rid=22449

Cannabis Testing Market Report Scope

Geographic Segment Covered in the Report:

North America (USA and Canada) Europe (UK, Germany, France and the rest of Europe) Asia Pacific (China, Japan, India, and the rest of the Asia Pacific region) Latin America (Brazil, Mexico, and the rest of Latin America) Middle East and Africa (GCC and rest of the Middle East and Africa)

Key questions answered in the report:

For More Information or Query or Customization Before Buying, Visit @ https://www.verifiedmarketresearch.com/product/cannabis-testing-market/

Visualize Cannabis Testing Market using Verified Market Intelligence:-

Verified Market Intelligence is our BI-enabled platform for narrative storytelling of this market. VMI offers in-depth forecasted trends and accurate Insights on over 20,000+ emerging & niche markets, helping you make critical revenue-impacting decisions for a brilliant future.

VMI provides a holistic overview and global competitive landscape with respect to Region, Country, and Segment, and Key players of your market. Present your Market Report & findings with an inbuilt presentation feature saving over 70% of your time and resources for Investor, Sales & Marketing, R&D, and Product Development pitches. VMI enables data delivery In Excel and Interactive PDF formats with over 15+ Key Market Indicators for your market.

Visualize Cannabis Testing Market using VMI @ https://www.verifiedmarketresearch.com/vmintelligence/

About Us: Verified Market Research

Verified Market Research is a leading Global Research and Consulting firm that has been providing advanced analytical research solutions, custom consulting and in-depth data analysis for 10+ years to individuals and companies alike that are looking for accurate, reliable and up to date research data and technical consulting. We offer insights into strategic and growth analyses, Data necessary to achieve corporate goals and help make critical revenue decisions.

Our research studies help our clients make superior data-driven decisions, understand market forecast, capitalize on future opportunities and optimize efficiency by working as their partner to deliver accurate and valuable information. The industries we cover span over a large spectrum including Technology, Chemicals, Manufacturing, Energy, Food and Beverages, Automotive, Robotics, Packaging, Construction, Mining & Gas. Etc.

We, at Verified Market Research, assist in understanding holistic market indicating factors and most current and future market trends. Our analysts, with their high expertise in data gathering and governance, utilize industry techniques to collate and examine data at all stages. They are trained to combine modern data collection techniques, superior research methodology, subject expertise and years of collective experience to produce informative and accurate research.

Having serviced over 5000+ clients, we have provided reliable market research services to more than 100 Global Fortune 500 companies such as Amazon, Dell, IBM, Shell, Exxon Mobil, General Electric, Siemens, Microsoft, Sony and Hitachi. We have co-consulted with some of the worlds leading consulting firms like McKinsey & Company, Boston Consulting Group, Bain and Company for custom research and consulting projects for businesses worldwide.

Contact us:

Mr. Edwyne Fernandes

Verified Market Research

US: +1 (650)-781-4080UK: +44 (753)-715-0008APAC: +61 (488)-85-9400US Toll-Free: +1 (800)-782-1768

Email: [emailprotected]

Website:- https://www.verifiedmarketresearch.com/

View original post here:
Cannabis Testing Market Size, Analysis, Competitive Strategies and Forecasts to 2028 - The Market Writeuo - The Market Writeuo

Some people involved in a class action against two fertility services over the use of a non-invasive test which may have incorrectly classifiedembryos as abnormalhave been told their embryos are still being stored.

The lawyer representing about 200 affected parties in Victoria's Supreme Court saidthe mistake hadresulted in some women choosing to beimplanted with another person's embryo, while others have lost precious months of fertility.

The class action launched lastDecember alleges Melbourne-based Monash IVF and Adelaide-based Repromed breachedtheir duty of care by failing to tell patients about the pitfalls of a type of testing that does not require a biopsy.

There are two ways to conduct such testing: the first method is through a biopsy, which involves taking a tissue sample from an embryo, a method that is considered invasive.

The second method is called non-invasive pre-implantation genetic testing and involves collecting DNA from the culture that the embryo has been growing in while in the laboratory.

The inaccuracy of the test used by the two services between May 2019 and October 2020 was discovered last October.

Patients were informed of the issue after manyhad already made the choice to donatethe embryos to science or destroy them.

Lawyer Michel Margalit said some clients had discovered last week that some oftheir embryos were still in storage.

Supplied

Those that had been donated could still be retrieved, but the others were lost forever.

"They acted on the advice that their embryos were abnormal or had been destroyed," Ms Margalit said.

"Some people obtained donor embryos and are now pregnant with children that aren't necessarily genetically related to them, or that had a whole host of other treatments, so it's a very painful time for our clients."

She said they were not told about the pitfalls of the experimental testing regime.

"In this case, there was an alternative a reliable test, a biopsy method and women were steered away from that method, to this non-invasive method and they just didn't know the mess they were walking into," she said.

Monash IVF and Repromed have now stopped using non-invasive pre-implantation genetic testing.

Repromed medical directorProfessor Kelton Tremellen said the test turned out to be not as accurate as the company had hoped.

He said some of the embryos that could now be used might still be abnormal.

Supplied: Repromed

"What we're trying to do is say, look, unfortunately, we've now recognised that the test is not as accurate as it was originally portrayed to us and that we want to give these individuals the opportunity to make a decision nowwhat they want to do with those embryos," he told ABC Radio Adelaide.

"Some people will say 'I simply don't want to use them, we've moved on'.

"Others will say, 'look, we'll accept the risk and transfer them and effectively consider them to be embryos that haven't been tested at all'."

He said he and other scientists had "lost sleep" worrying about the effect on patients.

"Rather than hide this stuff from patients, our staff have contacted them saying, 'look, those embryos are still in storage, we've now found out this test is not as accurate as we'd hoped, what would you like to do with them?'" he said.

"Rather than sweeping it under the carpet, we're trying to be open and socially responsible by having full disclosure."

Continue reading here:
IVF patients suing over inaccurate genetic tests find out some of their embryos were not discarded - ABC News

Small-cell lung cancer (SCLC) occurs almost exclusively in smokers and appears to be most common in heavy smokers. Historically, SCLC has been rare in never smokers. However, certain inherited mutations may increase the likelihood of developing SCLC.

It is very important to note that having inherited a genetic mutation does not mean a person will develop SCLC.

Although there are several different kinds of lung cancer, around 95% of lung cancers are either SCLCs or non-small cell lung cancers (NSCLCs).

What distinguishes SCLC from NSCLC is its rapid growth and the early development of widespread metastases. Although SCLC is initially very responsive to chemotherapy and radiation, the majority of patients will relapse within a few months to 1 year from initial therapy.

This article will look at whether SCLC is hereditary and whether a person can undergo genetic testing. It will also discuss the causes of and risk factors for SCLC.

SCLC occurs when certain cells in the lungs grow quickly and uncontrollably, forming a tumor.

Cancers begin to develop when genetic mutations affect the genes that control the growth and division of cells or repair DNA that is damaged.

The majority of lung cancer cases are due to genetic changes known as somatic mutations, which are not hereditary. A person acquires them during their lifetime.

The National Organization for Rare Disorders notes that the two main somatic mutations related to SCLC affect the genes TP53 and RB1.

The TP53 gene provides instructions for creating a protein called p53, and the RB1 gene provides instructions for making pRB. Both proteins are tumor suppressors, which means they regulate cell growth and division.

However, in 2021, a group of researchers published a scientific paper that looked at 87 people with SCLC.

After analyzing 607 genes from each individual, the researchers found genetic mutations that increased the likelihood of developing SCLC in 43.7% of the study participants. Around 10% of these are heritable genetic mutations.

The authors of the paper conclude that certain heritable genetic mutations could make some people more likely to develop SCLC.

It is of note that if a person inherits a genetic mutation, this can increase their risk of developing cancer. It does not mean, however, that they will definitely develop cancer.

In addition, the American Cancer Society states that, although genes can play a role in the development of lung cancer, few lung cancers occur due to inherited mutations alone.

Genetic testing is when healthcare professionals look for potential inherited genetic mutations that may increase a persons risk of developing certain kinds of cancer.

For some cancer types, a healthcare professional can also suggest genetic testing as a part of the diagnostic and staging process. This can help determine a persons outlook and whether particular treatment options might be helpful.

Currently, however, doctors do not use genetic testing to diagnose SCLC. The Memorial Sloan Kettering Cancer Center notes that healthcare professionals and researchers know less about the genetic mutations that can lead to SCLC than they do about other genetic changes.

Smoking is the primary cause of SCLC. Tobacco smoke contains cancer-causing chemicals, or carcinogens, which damage the DNA in cells.

According to a 2020 review, 85% of lung cancer cases are the result of smoking.

Other risk factors include exposure to:

There are several ways in which a person may be able to lower their risk of developing SCLC.

Smoking tobacco is such a common cause of SCLC that the most effective preventive strategy is to not begin smoking.

However, for those who do smoke, quitting can lower the likelihood of developing SCLC. If a person quits before cancer develops, the lung tissue can begin to gradually repair itself.

A 2018 study looked at a group of people who have smoked 21.3 packs of cigarettes per year on average. The researchers compared the lung cancer rates of those who currently smoke and those who had quit within the previous 5 years.

They found that the individuals in the latter group were 39.1% less likely to develop lung cancer.

Learn about 11 tips for giving up smoking here.

Other ways of lowering the risk of SCLC include reducing exposure to secondhand smoke, asbestos, and radon. However, this may sometimes be outside of a persons control.

At the moment, doctors do not use genetic testing to diagnose SCLC.

Instead, a person should contact a healthcare professional if they experience any of the following symptoms:

If a healthcare professional suspects the cause of the above symptoms is SCLC, they may perform the following diagnostic tests:

Cancer occurs due to genetic mutations that lead to an uncontrollable growth and division of cells.

A person can acquire these genetic mutations throughout their life. In some cases, certain hereditary genes can increase the risk of developing SCLC.

However, inherited genetic mutations are often not enough to cause cancer by themselves. Having inherited a genetic mutation does not mean a person will develop cancer. It means that it can increase the likelihood of that happening.

Smoking is the primary cause of SCLC. To help lower the risk of developing this type of cancer, a person should avoid smoking.

Read the original:
Is small-cell lung cancer hereditary? What to know - Medical News Today

NEW YORK Foundation Medicine and Flatiron Health announced this week that Foundations comprehensive genomic profiling tests will be available to order through Flatiron's OncoEMR platform. The integration will allow clinicians to electronically order, track, and receive Foundations test through OncoEMR, the companies said. Both Flatiron and Foundation are planning further integrations with the others comprehensive genomic profiling tests and electronic medical record systems, respectively.

Myriad Genetics this week said it has completed the sale of its Myriad RBM unit which specializes in providing laboratory research services to pharmaceutical companies to IQVIA subsidiary Q2 Solutions. When Myriad announced its intent to sell this business unit in May, it did not disclose the deal's financial details.

GenetronHealth said this week that it has entered a new partnership with the World Economic Forum under its Health and Healthcare Platform, where it is contributing its research insights, technologies, and industry experience. The platform's overall goal is to ensure worldwide equal access to the highest standards of health and healthcare.Genetroniscurrentlyparticipating in a sub-project,dubbedMoving Genomics to the Clinic, which seeks to promote the use of genetic testing in routine clinical practices by proving its utility and efficacy.

AccessHope, a City of Hope subsidiary, said this week that it has partnered with the Dana-Farber Cancer Institute to bring the latest cancer care expertise to patients and oncologists in the community. By partnering withAccessHope, Dana-Farber's experts will support oncologistswiththe latest advances in oncology,includingpersonalized treatments, clinical trials, promising investigational medications, and molecular testing. Patients in Massachusetts, Maine, New Hampshire, Vermont, Connecticut, Rhode Island, New York,and New Jersey, as well asthosein other parts of the country,can access these services through their employee benefits programs. City of Hope and Northwestern University's Robert H. Lurie Comprehensive Cancer Center are also foundational members ofAccessHope.

Molecular breath analysis startup Deep Breath Intelligencesaid this week that it has entered a collaboration with Lwenstein Medical, a sleep and respiratory medicine firm based inRheinland-Pfalz, Germany.Rotkreuz, Switzerland-based DBI said that it is applying artificial intelligence to identify breath biomarkers related to obstructive sleep apnea syndrome. DBIsaid ithas initiated a study on OSASin collaboration with Lwenstein Medical,using participantsbreath samples and applying DBIs patterned analytical algorithms to provide results.

Enable Biosciences said this week it is partnering with the California Department of Public Health to survey state residents for the presence of antibodies against SARS-CoV-2. As part of the program, more than 200,000 households in California will be invited to submit dried blood samples collected at home using kits developed by Enable Bio andtheCDPH. The samples will then be tested by Enable Bio for the presence of antibodies against SARS-CoV-2 to distinguish antibody response fromviralinfection versusresponse fromvaccination. Test results will provide information about the spread of COVID-19 in California and the uptake of vaccines for the disease, South San Francisco, California-based Enable Bio said. The project is a collaboration betweenthe company,theCDPH, Stanford University, and Gauss Surgical. The first survey period concluded June 15 with the second and third enrollment periods slated tobeginat the start of 2022.

NeoGensaid this week that it has extended itsglobalanimal genomicspartnership withGencove. Thepartnership allowsNeoGento offerGencove'sSkimSeeklow-pass sequencing technology to customers in the agricultural sector, including those in the bovine, canine,poultry, and swine industries. UsingGencove'ssequencingimputationplatform,NeoGensaid it can deliver increased genomics data with improved accuracy and flexibility.

Bioceptsaid this week ithas been added to the Russell Microcap Index. Michael Nall, Biocept's president and CEO,called the nodexceptionally exciting, as a driver ofawarenessfor the cancer liquid biopsy firm within thelargerglobal investment community.

Immunoviasaid this week that its American subsidiary hasreceived a CLIA Certificate of Registration,which isan important step in the accreditation of its laboratory in Marlborough, Massachusetts, and a prerequisite to receiving clinical laboratory licensure fromtheMassachusetts Department of Public Health. Clinical laboratory licensure is required beforeImmunoviacan begin testing patients with itsImmrayPanCan-d test, the firm said.According to the Centers for Medicare and Medicaid Services, a Certificate of Registration allows a laboratory toconduct moderate and/or high complexity testing until it is inspected to determine its compliance with the CLIA regulations.

In Brief This Week is a selection of news items that may be of interest to our readers but had not previously appeared onGenomeWeb.

Continued here:
In Brief This Week: Foundation Medicine, Myriad Genetics, Genetron Health, and More - GenomeWeb

Dublin, July 05, 2021 (GLOBE NEWSWIRE) -- The "Genomic Cancer Panel and Profiling Markets by Cancer, by Application, by Tissue and by Gene Type with Screening potential Market Size, Forecasting/Analysis, and Executive and Consultant Guides 2021-2025" report has been added to ResearchAndMarkets.com's offering.

Cancer Gene Panels and Genomic Profiling are quickly changing the diagnosis and treatment of cancers. The market is moving out of a specialized niche and going mainstream as Oncologists begin routinely using information on the hundreds of genes related to cancer. The market is exploding as physicians use all the information they can get in the battle against cancer. While Pharmaceutical Companies see the potential to make nearly any therapy viable. The report has data on how test volumes have grown for the biggest players. Find out how this new way of understanding cancer will change cancer diagnostics forever.

Comprehensive panels, genomic profiling, high risk breast cancer panels. Learn all about how players are jockeying for position in a market that is being created from scratch. And some players are pulling way out in front and expanding globally. It is a dynamic market situation with enormous opportunity where the right diagnostic with the right support can command premium pricing. And the science is developing at the same time creating new opportunities with regularity. And the cost of sequencing continues to fall.

This report provides data that analysts and planners can use. Hundreds of pages of information including a complete list of Current 2021 United States Medicare Fee Payment Schedules to help understand test pricing in detail. Forecast demand for new testing regimes or technologies. Make research investment decisions. Existing laboratories and hospitals can use the information directly to forecast and plan for clinical facilities growth.

Key Topics Covered:

1 Market Guides

2 Introduction and Market Definition

3 Market Overview3.1 Players in a Dynamic Market3.1.1 Academic Research Lab3.1.2 Diagnostic Test Developer3.1.3 Instrumentation Supplier3.1.4 Distributor and Reagent Supplier3.1.5 Independent Testing Lab3.1.6 Public National/regional lab3.1.7 Hospital lab3.1.8 Physician Office Labs3.1.9 Audit Body3.1.10 Certification Body3.2 Oncogenomics3.2.1 Carcinogenesis3.2.2 Chromosomes, Genes and Epigenetics3.2.2.1 Chromosomes3.2.2.2 Genes3.2.2.3 Epigenetics3.2.3 Cancer Genes3.2.4 Germline vs Somatic3.2.5 Gene Panels, Single Gene Assays and Multiplexing3.2.6 Genomic Profiling3.2.7 The Comprehensive Assay3.2.8 Changing Clinical Role3.2.9 The Cancer Screening Market Opportunity3.3 Cancer Management vs. Diagnosis3.3.1 The Role of Risk Assessment3.3.2 Diagnosis3.3.3 Managing3.3.4 Monitoring3.4 Phases of Adoption - Looking into The Future3.5 Structure of Industry Plays a Part3.5.1 Hospital Testing Share3.5.2 Economies of Scale3.5.2.1 Hospital vs. Central Lab3.5.3 Physician Office Lab's3.5.4 Physician's and POCT3.6 Currently Available Large Comprehensive Assays3.7 Pricing Profiling vs. Whole Exome (or Genome) Sequencing3.7.1 Medicare Profile Pricing3.7.2 Whole Exome Sequencing

4 Market Trends4.1 Factors Driving Growth4.1.1 Level of Care4.1.2 Companion Dx4.1.3 Immuno-oncology4.1.4 Liability4.1.5 Aging Population4.2 Factors Limiting Growth4.2.1 State of knowledge4.2.2 Genetic Blizzard4.2.3 Protocol Resistance4.2.4 Regulation and coverage4.3 Instrumentation and Automation4.3.1 Instruments Key to Market Share4.3.2 Bioinformatics Plays a Role4.4 Diagnostic Technology Development4.4.1 Next Generation Sequencing Fuels a Revolution4.4.2 Single Cell Genomics Changes the Picture4.4.3 Pharmacogenomics Blurs Diagnosis and Treatment4.4.4 CGES Testing, A Brave New World4.4.5 Biochips/Giant magneto resistance based assay

5 Cancer Panels & Profiles Recent Developments5.1 Recent Developments - Importance and How to Use This Section5.1.1 Importance of These Developments5.1.2 How to Use This Section5.2 Dante Labs Acquires Cambridge Cancer Genomics5.3 Celemics, Strand Partner on Integrated Platform for NGS Analysis5.4 Myriad Genetics Recalibrates Breast Cancer Panel for All Ancestries5.5 Burning Rock Revenues Rise5.6 Caris Life Sciences to Expand Liquid Biopsy Testing5.7 OncoDiag Announces Multiplex Test for Bladder Cancer Recurrence5.8 Intermountain and Myriad Combine Test Offering5.9 Illumina, Geneseeq to Offer Cancer Testing Kits in China5.10 Exact Sciences to Offer End-to-End Cancer Testing5.11 Guardant Health Turns to Tumor Tissue Sequencing5.12 Tempus Inks Oncology Testing Collaboration With Bayer5.13 Biocartis Collaborating With GeneproDx, Endpoint Health on Tests for Idylla Platform5.14 Wales to Routinely Screen Cancer Patients With Yourgene Elucigene Test5.15 Metastatic Cancer Markers Identified in Clinical WGS Study5.16 Stitch Bio Bets on CRISPR Tech5.17 Bayer, LifeLabs Launch Free NTRK Genetic Testing Program5.18 Foundation Medicine Liquid Biopsy Gets FDA Approval for Multiple Companion Dx5.19 Progress, Challenges in Liquid Biopsy Reimbursement5.20 Israeli Startup Curesponse Raises $6M5.21 Invitae, ArcherDX Merge to Advance Precision Oncology Offerings5.22 MD Anderson Precision Oncology Decision Support to Use Philips' Informatics Solution5.23 NeoGenomics, Lilly Oncology Partner for Thyroid Cancer Testing Program5.24 Germline Results Guides Precision Therapy in Advanced Cancer5.25 FDA Clears Cancer Genomic Profiling Kit From Personal Genome Diagnostics5.26 ArcherDX, Premier Collaborate to Evaluate Genomic Sequencing Assay for Cancers5.27 Labs Reporting Cancer Risk Mutations from Tumor Testing5.28 Users Begin Integrating Genomics Data for Clinical Decision Support5.29 Fujitsu Improves Efficiency in Cancer Genomic Medicine5.30 Thermo Fisher's automated sequencer to offer same-day, pan-cancer test results5.31 Universal Genetic Testing for All Breast Cancer Patients5.32 Exact Sciences buys Genomic Health5.33 Multi-Gene Liquid Biopsy Breast Cancer Panel5.34 Thrive to Develop Earlier Detection of Multiple Cancer Types5.35 New Gene Panel Identifies High Risk Prostate Cancer5.36 Guardant Health Liquid Biopsy Test to be Covered by EviCore5.37 Biocept Partnership Offering for Liquid Biopsy Adds Several Key Services5.38 Natera Commercializes Tumor Whole Exome Sequencing from Plasma5.39 Inivata Completes 39.8M Series B Funding Round5.40 Bio-Rad Clinical ddPCR Test, Diagnostic System Get FDA Clearance5.41 CellMax, Medigen Biotech Partner in Colorectal Cancer Clinical Trials5.42 Biodesix Acquires Integrated Diagnostics5.43 Predicine, Kintor Pharmaceuticals Partner on Clinical Trials, CDx

6 Profiles of Key Players6.1 10x Genomics, Inc6.2 Abbott Diagnostics6.3 AccuraGen Inc6.4 Adaptive Biotechnologies6.5 Aethlon Medical6.6 Agena Bioscience, Inc6.7 Agilent/Dako6.8 Anchor Dx6.9 ANGLE plc6.10 ApoCell, Inc.6.11 ArcherDx, Inc6.12 ARUP Laboratories6.13 Asuragen6.14 AVIVA Biosciences6.15 Baylor Miraca Genetics Laboratories6.16 Beckman Coulter Diagnostics6.17 Becton, Dickinson and Company6.18 BGI Genomics Co. Ltd6.19 Bioarray Genetics6.20 Biocartis6.21 Biocept, Inc6.22 Biodesix Inc6.23 BioFluidica6.24 BioGenex6.25 BioIVT6.26 Biolidics Ltd6.27 bioMerieux Diagnostics6.28 Bioneer Corporation6.29 Bio-Rad Laboratories, Inc6.30 Bio-Reference Laboratories6.31 Bio-Techne6.32 Bioview6.33 Bolidics6.34 Boreal Genomics6.35 Bristol-Myers Squibb6.36 Burning Rock6.37 Cancer Genetics6.38 Caris Molecular Diagnostics6.39 Castle Biosciences, Inc.6.40 Celemics6.41 CellMax Life6.42 Cepheid (Danaher)6.43 Charles River Laboratories6.44 Chronix Biomedical6.45 Circulogene6.46 Clinical Genomics6.47 Cynvenio6.48 Cytolumina Technologies Corp6.49 CytoTrack6.50 Datar Cancer Genetics Limited6.51 Diagnologix LLC6.52 Diasorin S.p.A6.53 Enzo Life Sciences, Inc6.54 Epic Sciences6.55 Epigenomics AG6.56 Eurofins Scientific6.57 Exact Sciences6.58 Exosome Diagnostics6.59 Exosome Sciences6.60 Fabric Genomics6.61 Fluidigm Corp6.62 Fluxion Biosciences6.63 Foundation Medicine6.64 Freenome6.65 FUJIFILM Wako Diagnostics6.66 GeneFirst Ltd.6.67 Genetron Holdings6.68 GenomOncology6.69 GILUPI Nanomedizin6.70 Grail, Inc.6.71 Guardant Health6.72 HalioDx6.73 HansaBiomed6.74 HeiScreen6.75 Helomics6.76 Horizon Discovery6.77 HTG Molecular Diagnostics6.78 iCellate6.79 Illumina6.80 Incell Dx6.81 Inivata6.82 Integrated Diagnostics6.83 Invitae Corporation6.84 Invivogen6.85 Invivoscribe6.86 Janssen Diagnostics6.87 MDNA Life SCIENCES, Inc6.88 MDx Health6.89 Menarini Silicon Biosystems6.90 Millipore Sigma6.91 Miltenyi Biotec6.92 MIODx6.93 miR Scientific6.94 Molecular MD6.95 MyCartis6.96 Myriad Genetics/Myriad RBM6.97 NantHealth, Inc.6.98 Natera6.99 NeoGenomics6.100 New Oncology6.101 NGeneBio6.102 Novogene Bioinformatics Technology Co., Ltd.6.103 Oncocyte6.104 OncoDNA6.105 Ortho Clinical Diagnostics6.106 Oxford Nanopore Technologies6.107 Panagene6.108 Perkin Elmer6.109 Personal Genome Diagnostics6.110 Personalis6.111 Precipio6.112 PrecisionMed6.113 Promega6.114 Qiagen Gmbh6.115 Rarecells SAS6.116 RareCyte6.117 Roche Molecular Diagnostics6.118 Screencell6.119 Sense Biodetection6.120 Serametrix6.121 Siemens Healthineers6.122 Silicon Biosystems6.123 simfo GmbH6.124 Singlera Genomics Inc6.125 Singulomics6.126 SkylineDx6.127 Stratos Genomics6.128 Sysmex Inostics6.129 Tempus Labs, Inc6.130 Thermo Fisher Scientific Inc6.131 Thrive Earlier Detection6.132 Todos Medical6.133 Trovagene6.134 Variantyx6.135 Volition6.136 Vortex Biosciences

7 The Global Market for Cancer Gene Panels and Profiles7.1 Global Market Overview by Country7.2 Global Market by Cancer Type - Overview7.3 Global Market by Application - Overview7.4 Global Market by Tissue - Overview7.5 Global Market Germline & Somatic - Overview

8 Global Cancer Gene Panels & Profiles Markets - By Type of Cancer8.1 Comprehensive Panels & Profiles8.1.1 Table Comprehensive Testing - by Country8.1.2 Chart - Comprehensive Testing Growth8.2 Breast Cancer Gene Testing8.2.1 Table Breast Cancer Gene Testing - by Country8.2.2 Chart - Breast Cancer Testing Growth8.3 Colorectal Cancer Gene Testing8.3.1 Table Colorectal Cancer Gene Testing - by Country8.3.2 Chart - Colorectal Cancer Gene Testing Growth8.4 Gynecological Cancer Gene Testing8.4.1 Table Gynecological Cancer Gene Testing - by Country8.4.2 Chart - Gynecological Cancer Gene Testing Growth8.5 Blood Cancer Gene Testing8.5.1 Table Blood Cancer Gene Testing - by Country8.5.2 Chart - Blood Cancer Gene Testing Growth8.6 Prostate Cancer Gene Testing8.6.1 Table Prostate Cancer Gene Testing - by Country8.6.2 Chart - Prostate Cancer Testing Growth8.7 Lung Cancer Gene Testing8.7.1 Table Lung Cancer Gene Testing - by Country8.7.2 Chart - Lung Cancer Gene Testing Growth8.8 Other Cancer Gene Testing8.8.1 Table Other Cancer Gene Testing - by Country8.8.2 Chart - Other Cancer Gene Testing Growth

9 Global Cancer Gene Panels & Profiles Markets - By Type of Application9.1 Clinical Testing9.1.1 Table Clinical Testing - by Country9.1.2 Chart - Clinical Testing Growth9.2 Pharmaceutical Testing9.2.1 Table Pharmaceutical Testing - by Country9.2.2 Chart - Pharmaceutical Testing Growth9.3 Research Testing9.3.1 Table Research Testing - by Country9.3.2 Chart - Research Testing Growth

10 Global Cancer Gene Panels & Profiles Markets - By Tissue Type10.1 Solid Tissue10.1.1 Table Solid Tissue Testing - by Country10.1.2 Chart - Solid Tissue Testing Growth10.2 Liquid Tissue Testing10.2.1 Table Liquid Tissue Testing - by Country10.2.2 Chart - Liquid Tissue Testing Growth

11 Global Cancer Gene Testing Markets - Germline and Somatic11.1 Global Market Somatic11.1.1 Table Somatic - by Country11.1.2 Chart - Somatic Testing Growth11.2 Global Market Germline11.2.1 Table Germline - by Country11.2.2 Chart - Germline Testing Growth

12 Potential Market Opportunity Sizes12.1 Potential Cancer Screening by Country: Lung, Breast & Colorectal12.2 Potential Cancer Screening by Country: Prostate, Other Cancer & All Cancer12.3 Potential Market Size - Cancer Diagnosis12.4 Potential Market Size - Therapy Selection

13 Appendices

For more information about this report visit https://www.researchandmarkets.com/r/ybmn5m

Read more from the original source:
Insights on the Genomic Cancer Panel and Profiling Global Market to 2025 - GlobeNewswire

Global Animal Genetics Market 2021-2025 The analyst has been monitoring the animal genetics market and it is poised to grow by $ 1. 84 bn during 2021-2025, progressing at a CAGR of almost 7% during the forecast period.

New York, July 05, 2021 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Global Animal Genetics Market 2021-2025" - https://www.reportlinker.com/p06102913/?utm_source=GNW Our report on animal genetics market provides a holistic analysis, market size and forecast, trends, growth drivers, and challenges, as well as vendor analysis covering around 25 vendors.The report offers an up-to-date analysis regarding the current global market scenario, latest trends and drivers, and the overall market environment. The market is driven by the growing consumption of animal-derived food products and growing demand for genetic testing services to reduce livestock diseases. In addition, growing consumption of animal-derived food products is anticipated to boost the growth of the market as well.The animal genetics market analysis includes solution segment and geographic landscape.

The animal genetics market is segmented as below:By Geography North America Europe Asia ROW

By Solution Live animal Genetic testing services Genetic materials

This study identifies the growing focus on research and development in animal genomics as one of the prime reasons driving the animal genetics market growth during the next few years.

The analyst presents a detailed picture of the market by the way of study, synthesis, and summation of data from multiple sources by an analysis of key parameters. Our report on animal genetics market covers the following areas: Animal genetics market sizing Animal genetics market forecast Animal genetics market industry analysis

This robust vendor analysis is designed to help clients improve their market position, and in line with this, this report provides a detailed analysis of several leading animal genetics market vendors that include Animal Genetics Inc., AquaGen AS, Aviagen Inc., Cooperatie Koninklijke CRV u.a., Genetic Veterinary Sciences Inc, Genus Plc, Hendrix Genetics BV, Neogen Corp., Topigs Norsvin Holding B.V., and Zoetis Inc. Also, the animal genetics market analysis report includes information on upcoming trends and challenges that will influence market growth. This is to help companies strategize and leverage all forthcoming growth opportunities.The study was conducted using an objective combination of primary and secondary information including inputs from key participants in the industry. The report contains a comprehensive market and vendor landscape in addition to an analysis of the key vendors.

The analyst presents a detailed picture of the market by the way of study, synthesis, and summation of data from multiple sources by an analysis of key parameters such as profit, pricing, competition, and promotions. It presents various market facets by identifying the key industry influencers. The data presented is comprehensive, reliable, and a result of extensive research - both primary and secondary. Technavios market research reports provide a complete competitive landscape and an in-depth vendor selection methodology and analysis using qualitative and quantitative research to forecast the accurate market growth.Read the full report: https://www.reportlinker.com/p06102913/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

__________________________

Story continues

Continued here:
The Global Animal Genetics Market is expected to grow by $ 1.84 bn during 2021-2025, progressing at a CAGR of almost 7% during the forecast period -...

SAN DIEGO, July 02, 2021 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced today that Chief Medical Officer Dr. Alka Chaubey and current President of the Cancer Genomics Consortium Dr. Yassmine Akkari will present at the 6th Annual International Conference of the Board of Genetic Counseling India to be held virtually from July 2nd-4th 2021. Dr. Chaubey has been recognized to present as an invited speaker and will discuss how optical genome mapping (OGM) is enabling a revolution in cytogenetics during a session titled Genetic Counseling in the Omics Era on Saturday July 3rd at 9:25 am IST. Dr. Akkari will present her results using OGM for the genome analysis of Acute Myelogenous Leukemia (AML), and discuss how genetic counselors can introduce OGM to patients on July 3rd at 4:10 pm IST. Bionano Genomics is a Diamond Sponsor of the conference.

This conference aims to promote education among genetic counselors, specialists, doctors, health care providers and students, about current topics in genetics, genomics and genetic counseling. The Annual International Conference of the Board of Genetic Counseling India has over 2,000 delegates from across the globe and can be accessed at bgciconference.com

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a research use only platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools. Bionano provides genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visit http://www.bionanogenomics.com or http://www.lineagen.com.

Story continues

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations and Media Contact:Amy ConradJuniper Point+1 (858) 366-3243amy@juniper-point.com

See the original post:
Bionano Genomics Chief Medical Officer Dr. Alka Chaubey and Cancer Genomics Consortium President Dr. Yassmine Akkari to Present on Optical Genome...

Shahid Akhter, editor, ETHealthworld, spoke to Neeraj Gupta, Founder and CEO, Genes2me, to know more about the increased need for molecular diagnostics during the Cocvid-19 pandemic.

How has the molecular diagnostics market evolved in the last decade?The importance of Molecular Diagnostics have received significant recognition in last decade and with the emergence of Covid-19 pandemic in last 1 year, RTPCR tests have become common talking term in every house along with eruption in the Healthcare requirements. In order to cater huge requirements of RTPCR testing for Covid-19, numerous laboratories have adopted RTPCR and automated RNA Extraction platforms. Also, multiple Companies expanded their portfolio and ventured into IVD kits manufacturing as the demand increased for Made In India products.

Why there is a need for Advanced Molecular Diagnostics and Genetic testing segment?There has been increased need for Advanced Molecular Diagnostics and Genetic Tests due to increase in occurrence of Rare Genetic Disorders and new Infectious Diseases (like SARS-COV-2, Mucormycosis, etc.). Also as new strains of SARS-COV-2 are frequently being reported, importance of Advanced Genetic Testing gains significance. Recently, Genes2Me have also developed Unique Mutation Classifier assay which can rapidly differentiate 40 variants between 16 SARS-CoV-2 strains allowing quick genetic screening of large sections of population.What has been the role of technology in enhancing India's testing condition during this pandemic?With the emergence of Covid-19, the need of Molecular Diagnostics have been recognised and grown in last 1 year with spread of network of RTPCR and Automated RNA Extraction Instruments across India. It has really helped in ramping the testing for Diagnosing positive cases on time. Genes2Me is also aggressively working to leverage this massive installed base of Genetic Testing platforms. Based on our expertise in Genomics and access to latest Technologies, we have been able to develop several assays for Infectious diseases, Oncology and Reproductive Health in India. Most of these test panels have been Import dependent from other countries. Similarly, Genes2Me team is aggressively working to develop diverse range of Research and Diagnostics Solutions for Nucleic Acid testing along with Next Generation Sequencing reagents for Genome sequencing.

Genes2Me is committed to continuously deliver Innovative and scientific solutions such as much needed Unique Mutation Classifier assay for SARS-COV-2 strain and easy self-use Antigen test kits solutions which is under R&D phase, besides many other products.

***

Read more from the original source:
Emergence of new strains of SARS-COV-2, paves the way for Advanced Genetic Testing: Neeraj Gupta, Genes2me - ETHealthworld.com

I am nominating Lily Apfel, LVN, for the Extraordinary Healer Award. I came to know Lily in 2015 when she was diagnosed with breast cancer at the age of 35. She was a LVN working at our gastroenterology clinic. She was under my care and received comprehensive treatment including surgery, chemotherapy and radiation. During the treatment, she showed great strength and handled the tough ordeals gracefully. Our staff loved her.

Half a year later, at one of her follow-up appointments, I recruited her, and she was extremely excited and has joined us since. For the ensuing years, she has taken important roles. I am a solo provider for this community, so our staff often take multiple roles to meet the complexity of oncology care. She is our liaison and go-to person on oncology-specialty oral drugs. She is our head person on genetic testing. She handles our tumor board logistics.

There are also other attributes that make her unique. She is a great patient advocate, especially for uninsured Hispanics in our community. Lily is fluent in Spanish, and she is almost the only person these patients depend on to get their oncology care coordinated and drugs covered. She would go beyond for those patients. Lily is also very active in her own community, which is different from where she is working. It is not uncommon to hear that she does house hospice visits.

Please consider her for this Extraordinary Healer Award. Our clinic and community are very fortunate to have her.

Editors Note: This is an essay submitted by Dr. Hengbing Wang for the 2021 Extraordinary Healer Award. Click here to read more about CUREs Extraordinary Healer Award for Oncology Nursing event on April 30, 2021.

For more news on cancer updates, research and education, dont forget tosubscribe to CUREs newsletters here.

More here:
Impacting Communities Around Her as a Patient and Nurse - Curetoday.com

Amyotrophic lateral sclerosis, better known as ALS or Lou Gehrig's disease, is a rare neurological disorder that that approximately 20,000 U.S. residents are living with during any given year. And while your chances of receiving an ALS diagnosis may be relatively low, the prognosis for people with ALS is dire. According to the Centers for Disease Control and Prevention (CDC), patients with ALS typically live just two to five years after first displaying symptoms, which typically include muscle weakness or stiffness, spasms, fatigue, and difficulty swallowing, among others.

Researchers know that these symptoms arise due to the disease attacking motor neurons in the brain and spinal cord which are needed for muscle movement, but the root cause of ALS is still unfortunately unknown. Experts say that both genetic and environmental factors likely play a role. In fact, there's one genetic factor that may give you an insight into your risk level. Read on to discover the one thing 90 percent of people with ALS have have in common.

RELATED:If You Notice This in the Morning, It May Be an Early Sign of Parkinson's.

According to the ALS Association (ALSA), roughly 90 percent of patients have "sporadic ALS," a type of ALS that is not inherited through genetic mutations. In these cases, the person diagnosed is the only person in their family with the disease. The onset of their disease typically occurs later than it does in patients with a known family history of ALS.

RELATED:If You Do This at Night, It May Be an Early Sign of Parkinson's, Study Says.

The remaining 10 percent of ALS cases are considered "familial ALS" (FALS). "In these cases, more than one person in the family has ALS and sometimes family members have frontotemporal dementia as well. People with FALS often start showing symptoms at earlier ages than in sporadic ALS," writes Deborah Hartzfeld, MS, a certified genetic counselor (via the ALSA).

This statistic can spur confusion for some about one's odds of developing ALS depending on family history. While nine out of 10 people with ALS will have no known family history, you're much more likely to develop ALS if you've got a family history of the disease than if you do not.

The FALS gene mutation is most often autosomal dominant, meaning only one parent must have it in order to pass it onto their children. It also means that the affected parent has one copy of the gene with a mutation and one without, meaning they have a 50 percent chance of passing it the mutation on to their offspring.

According to the ALS Association, "typically, although not always, there will be someone in each generation with ALS and/or dementia," which appears alongside ALS in one third of cases. It is worth noting that not everyone with the genetic mutation will go on to develop symptoms of ALS.

For more health news sent directly to your inbox, sign up for our daily newsletter.

Though 90 percent of ALS cases are not the result of an inherited genetic mutation, genetic screening can help you better understand your risk if you do have a family history. This will typically require either a blood or saliva test, and can take several months to get results. The results can only be interpreted if the person in your family diagnosed with ALS is also able to participate in testing.

However, the ALSA points out that even with genetic testing, you cannot rule out the possibility of passing on familial ALS. "Not having an identified genetic mutation does not eliminate a FALS diagnosis and other family members may still be at risk for developing ALS," the organization explains. Speaking with your doctor is the first and most important step to find out your personal riskespecially if you're presenting with any possible ALS symptoms.

RELATED:This Is The Single Best Way to Predict Your Heart Attack Risk, Experts Say.

Link:
90 Percent of People With ALS Have This in Common, Experts Say - Best Life

New Jersey, United States,-The report titled Predictive Genetic Testing And Consumer/Wellness Genomics Market is a comprehensive document containing valuable insights into market elements such as drivers, restraints, competitive landscape, and technology development. The report offers a comprehensive analysis of key segments and future growth prospects for a better understanding of the market. The current COVID-19 pandemic has seriously altered market dynamics and the global economy. The report includes an analysis of the impact of the pandemic on the global market. It also provides current and future impact studies. The report provides a comprehensive analysis of the dynamic changes in trends and demands due to the COVID-19 pandemic. The report also contains a post-COVID scenario and prospects for future growth.

Competitive analysis includes key players and the innovations and business strategies they have implemented. The report captures the best long-term growth opportunities for the industry and includes the latest process and product developments. The report provides basic information of the companies along with their market position, history, market capitalization, and revenue. The report includes the sales figures, market growth rate and gross profit margin of each player based on regional classification and overall market position. The report provides a separate analysis of recent business strategies such as mergers, acquisitions, product launches, joint ventures, partnerships and collaborations.

Get | Download Sample Copy with TOC, Graphs & List of Figures @https://www.verifiedmarketreports.com/download-sample/?rid=472815

Key Features of the Report:

The report covers extensive analysis of the key market players in the market, along with their business overview, expansion plans, and strategies. The key players studied in the report include:

Illumina BGI Genesis Genetics Myriad Genetics 23andMe Inc Color Genomics Inc Pathway Genomics ARUP Laboratories

The report provides valuable insights into the advancement of the Predictive Genetic Testing And Consumer/Wellness Genomics market and related approaches to the Predictive Genetic Testing And Consumer/Wellness Genomics market with an analysis of each region. The report also discusses the dominant aspects of the market and examines each segment.

Market Breakdown:

The market breakdown provides market segmentation data based on the availability of the data and information. The market is segmented on the basis of types and applications.

The report further studies the market segmentation based on the types of products offered in the market and their end-uses/uses.

Predictive Testing Consumer Genomics Wellness Genomics

By the application, this report covers the following segments:

Breast & Ovarian Cancer Cardiovascular screening Diabetic Screening & Monitoring Colon Cancer

Get Discount On The Purchase Of This Report @https://www.verifiedmarketreports.com/ask-for-discount/?rid=472815

Predictive Genetic Testing And Consumer/Wellness Genomics Market Report Scope

To understand the Predictive Genetic Testing And Consumer/Wellness Genomics market dynamics, the market is analyzed across major global regions and countries. Verified Market Reports provides customized specific regional and country-wise analysis of the key geographical regions as follows:

North America:USA, Canada, Mexico

Latin America:Argentina, Chile, Brazil, Peru, and Rest of Latin America

Europe:UK, Germany, Spain, Italy, and Rest of EU

Asia-Pacific:India, China, Japan, South Korea, Australia, and Rest of APAC

Middle East & Africa:Saudi Arabia, South Africa, U.A.E., and Rest of MEA

Key Elements Addressed in the Report:

Market Scenario:

The report highlights the essential features of the business sphere of the Predictive Genetic Testing And Consumer/Wellness Genomics industry. It covers development trends, factors driving the growth of the market, and segments influencing the growth of the market. It covers the product types, applications, types, deployments, and developments happening in the market.

Market Highlights:

The report provides an in-depth analysis of the market involving key elements, revenue estimations, cost analysis, import/export, production and consumption trends, CAGR, gross margin, and supply & demand patterns. The report further gives an idea about the development factors and advancement patterns of the Predictive Genetic Testing And Consumer/Wellness Genomics industry.

Analytical Tools:

The Predictive Genetic Testing And Consumer/Wellness Genomics Market is assessed through extensive primary and secondary research, which is further validated and verified by industry experts and professionals. The report examines key players operating in the market along with their market position, market share, revenue, gross margin, and business strategies. SWOT analysis and Porters Five Forces Analysis are conducted to examine and assess the market and its players. Moreover, the report also offers a feasibility study and investment return analysis to assist the readers in making strategic investment plans.

How will the report help your business grow?

? This document provides statistics on the value (in USD) and size (in units) of the Predictive Genetic Testing And Consumer/Wellness Genomics industry from 2021 to 2028.

? The report also details major competitors in the market that will have a greater impact on Predictive Genetic Testing And Consumer/Wellness Genomicss business.

? Comprehensive understanding of the fundamental trends affecting each sector despite the greatest threat, the latest technologies and opportunities that can create a global Predictive Genetic Testing And Consumer/Wellness Genomics market for both supply and demand.

? The report will help the client identify the key results of the major market players or rulers of the Predictive Genetic Testing And Consumer/Wellness Genomics sector.

For More Information or Query or Customization Before Buying, Visit @https://www.verifiedmarketreports.com/product/predictive-genetic-testing-and-consumer-wellness-genomics-market-size-and-forecast/

Visualize Predictive Genetic Testing And Consumer/Wellness Genomics Market using Verified Market Intelligence:-

Verified Market Intelligence is our BI-enabled platform for narrative storytelling of this market. VMI offers in-depth forecasted trends and accurate Insights on over 20,000+ emerging & niche markets, helping you make critical revenue-impacting decisions for a brilliant future.

VMI provides a holistic overview and global competitive landscape with respect to Region, Country, and Segment, and Key players of your market. Present your Market Report & findings with an inbuilt presentation feature saving over 70% of your time and resources for Investor, Sales & Marketing, R&D, and Product Development pitches. VMI enables data delivery In Excel and Interactive PDF formats with over 15+ Key Market Indicators for your market.

Visualize Predictive Genetic Testing And Consumer/Wellness Genomics Market using VMI @https://www.verifiedmarketresearch.com/vmintelligence/

About Us: Verified Market Reports

Verified Market Reports is a leading Global Research and Consulting firm servicing over 5000+ global clients. We provide advanced analytical research solutions while offering information-enriched research studies.

We also offer insights into strategic and growth analyses and data necessary to achieve corporate goals and critical revenue decisions.

Our 250 Analysts and SMEs offer a high level of expertise in data collection and governance using industrial techniques to collect and analyze data on more than 25,000 high-impact and niche markets. Our analysts are trained to combine modern data collection techniques, superior research methodology, expertise, and years of collective experience to produce informative and accurate research.

Our research spans over a multitude of industries including Energy, Technology, Manufacturing and Construction, Chemicals and Materials, Food and Beverages etc. Having serviced many Fortune 2000 organizations, we bring a rich and reliable experience that covers all kinds of research needs.

Contact us:

Mr. Edwyne Fernandes

US: +1 (650)-781-4080UK: +44 (753)-715-0008APAC: +61 (488)-85-9400US Toll-Free: +1 (800)-782-1768

Email: sales@verifiedmarketreports.com

Website: https://www.verifiedmarketreports.com/

Go here to see the original:
Predictive Genetic Testing And Consumer/Wellness Genomics Market Size and Growth 2021-2027 | Top Manufacturers Illumina, BGI, Genesis Genetics,...

Genetic testing, or more specifically pharmacogenomics, plays an important role by enabling healthcare providers to more accurately predict which treatments will work well, as well as which drugs may lead to unwanted side effects.

In the case of cancer treatments, it is also possible to look at the genome of the tumour itself to see which therapies are most likely to be effective. The Clinical Pharmacogenetics Implementation Consortium (CPIC) is an international group dedicated to facilitating the use of pharmacogenomic testing for patient care. One such example of this is dihydropyrimidine dehydrogenase (DPD) enzyme deficiency screening, by way of DPYD gene testing. Yourgene Health are proud to be supporting the international roll out of this screening to the benefit of millions of patients undergoing treatment for cancer.

Fluoropyrimidines such as 5-Fluorouracil (5-FU) and its prodrugs capecitabine and tegafur are chemotherapy agents widely used in the treatment of patients with gastrointestinal (GI), head/neck, breast, and other forms of solid tumour cancer. Only a fraction of a fluoropyrimidine drug is transformed into active cytotoxic agents. The dihydropyrimidine dehydrogenase (DPD) enzyme is necessary to catabolise most of these agents to inactive products, thus limiting the circulating levels of fluoropyrimidines. When DPD enzyme activity is deficient, patients treated with standard dosing of fluoropyrimidines are at significantly increased risk of severe toxicities or even death. The DPYD gene encodes for the synthesis of the DPD enzyme. DPD enzyme deficiency is strongly correlated with certain variants in the DPYD gene.

Fluoropyrimidines-based chemotherapy is used to treat over two million patients every year across the world. 3-8% of individuals are believed to be carriers of one or more known risk variants in DPYD gene. Carriers of a causative variant are at up to an 88% risk of severe toxicity if treated with a standard dose. DPYD testing helps identify those individuals who are at increased risk of these toxic side effects. These patients can be offered alternative therapies or lower treatment doses. The CPIC has issued guidance on dosage modifications recommended for a select number of genotypes and their associated activity score. Pre-emptive genotyping of all patients for these specific variants has proven highly precise in predicting an adverse drug response, with a specificity of ~95%.

Late last year NHS England announced that all at-risk cancer patients (approximately 38,000 each year) will now routinely be tested for DPYD variants. The Elucigene DPYD assay is already in use across multiple laboratories in several English Genomic Laboratory Hubs, including Liverpool and Cambridge.

The assay is also being used to provide nation-wide testing in Wales following a successful pilot programme with All Wales Medical Genomics Service (AWMGS), and for Scotland in within the Genetic Consortium Laboratories. In Wales alone, the test is used to screen approximately 200 patients each month. If the screen positive rate of 6% identified in the pilot continues, we anticipate 144 cancer patients will be prevented from having toxic chemotherapy reactions over the next year.

Please note: This is a commercial profile

2019. This work is licensed under aCC BY 4.0 license.

Editor's Recommended Articles

See the original post:
DPYD genotyping to improve patients' therapy response - Open Access Government

This piece originally appeared on the Good Notes blog.

Virtual health care is here to stay. Many believe the era of telehealth was launched by the coronavirus pandemic. It wasnt, but the health crisis certainly accelerated it. Prior to the pandemic, 2% of University of Utah Health providers had seen patients virtuallynow, 90% have. From March 2020 to March 2021, our providers held 400,000 virtual telehealth sessions. That amounts to between 6,000 and 8,000 sessions a week.

Telehealth will continue to evolve. It already involves more than live transmission of a patients face onto a providers device while the patient describes his or her state of health and asks questions. As diagnostics continue to improve, patients will be able to do more within their own homes. Wearable medical devices are increasingly integrated with remote care delivery. Remote labs continue to emerge, changing how patients monitor their health. Think of swabs that patients collect in the comfort of home and drop into a mailbox for analysis. This exists for genetic testing companies like 23andMe. We did it with COVID-19 tests. Coronavirus testing advanced quite rapidly so that someone at home could do a self-swab and send it back to a central lab.

For more complex lab diagnostics, imagine the day when a lab technician comes to your home to collect samples for testing or perform imaging tests like an X-ray. The idea is to flip the supply chain upside down: Instead of the patient coming to the hospital, lab or imaging center, why not the hospital, lab, or imaging center going to the patient?

The premise of all these things is making health care more convenient, easier to access, and ultra-consumer-centered. Delivery in the home, or wherever it may be convenient for the patient, is a rapidly expanding trend. Video visits are just one component of it. Certain visits still need hands-on evaluation, often with a video component. From my perspective as an orthopaedist, we had to develop a structure for telehealth sessions to be effective. We now have a short video we send to patients ahead of time that tells them the multiple steps they should take before treatment. For a new patient appointment, I need the patient to make certain videos and take certain photographs of themselves to send in, before I see them virtually. My colleagues and I intend to streamline virtual visits even more because its incredibly cost-effective and time-effective for the patient.

Telehealth also means better access to care and treatment at U of U Health for our patient base geographically spread across the Mountain West and beyond. We have one of the most rural populations of a major academic medical center anywhere in the country. Virtual care gives us a chance to reach out, talk to, and evaluate patients across broad geography without them needing to leave their homes or burn carbon fuels. It gets us even closer to University of Utah Healths goal of providing our regional population with access to world-class patient-centered care.

With telehealths initial success and great potential, its still not for everyonenor effective for every condition. Many patients remain skeptical about virtual visits, thinking their physician may not get an accurate picture or full understanding of their health issue. There are also patients who just find comfort and reassurance from in-person conversations. We need to give patients choice. As long as it is clinically appropriate, telehealth works wellespecially when we match the right circumstances to a patients preference.

Our data shows that whats wanted is as varied as our patient populations. A core group of more digitally literate patients quickly recognized the benefits of virtual care. Most of these patients connect to us with their smartphones. They are motivated to learn quickly because digital technology connects with their physicianand helps them bring in family members from dispersed locations to participate in health care visits. Yet theres a huge swath of our patient population that hasnt had enough digital experience to be comfortable talking device to device.

The telehealth option is increasingly widespread. Its not just at U of U Health, an academic health organization with state-of-the-art digital equipment, where the reconfigured world of patient care is underway. Traditional health care business models of all sizes are expanding home-based clinical care. Coalitions have formed among health care groups to support policy changes that designate the home as a site of clinical service.

With vaccinations and the number of COVID cases falling during the last couple of months, theres been an appropriate decrease in virtual care within our system. But it has not returned to pre-COVID levels. It is here to stay. So our mission in approaching the new normal is to pivot and be especially strategic about virtual care to ensure that we use it to meet the needs of our patients. Whenever possible, we also want to offer the deep resources of our academic tertiary health care system. We need to maintain exceptional value with high standards of quality and experience for patients and providers.

More:
Here to stay: The era of telehealth | @theU - @theU

The Latest Direct to consumer Genetic Testing Market report helps to identify the growth factors and business opportunities for the new entrants in the Global Direct to consumer Genetic Testing industry with a detailed study of Market Dynamics and technological innovations and trends of the Global Direct to consumer Genetic Testing Market. The report covers all leading vendors operating in the market and the small vendors which are trying to expand their business at a large scale across the globe. That report presents strategic analysis and ideas for new entrants using a historic data study. The study report offers a comprehensive analysis of market share in terms of percentage share, gross premium, and revenue of major players functioning in the industry of the Global market. Thus, the report provides an estimation of the market size, revenue, sales analysis, and opportunities based on the past data for current and future market status.

This research report offers PESTEL analysis, Porters Five Force Analysis, and Ecosystem analysis of the Global Direct to consumer Genetic Testing Market. Furthermore, the research report covers all the major countries and regions which have a good market scale of different vendors in those regions. Also, the report forecasts the market size of the Global Direct to consumer Genetic Testing Market in Compound Annual Growth Rate in terms of revenue during the forecast period. The research report also offers in-depth analysis about the Agreements, collaboration, and partnership among different vendors across the globe to expand the business of the Global Direct to consumer Genetic Testing Market.

Request for a sample copy of the report to get extensive insights into Direct to consumer Genetic Testing market and Get Upto 30% Discount at https://www.in4research.com/sample-request/48195

Top listed Players for Global Direct to consumer Genetic Testing Market are:

How has the competitive landscape of this industry been categorized?

Direct to consumer Genetic Testing Market Segmentation by Type, Application, and Region as follows:

By Type:

By Application:

Geographically, this report is segmented into several key Regions along with their respective countries, with production, consumption, revenue, and market share and growth rate of Direct to consumer Genetic Testing in the following regions:

For more Customization, Connect with us at https://www.in4research.com/customization/48195

Valuable Points Covered in Direct to consumer Genetic Testing Research Study are:

Reasons to Access Direct to consumer Genetic Testing Market Report:

Buy Full Research Report at https://www.in4research.com/buy-now/48195

FOR ALL YOUR RESEARCH NEEDS, REACH OUT TO US AT:

Contact Name: Rohan

Email: contactus@in4research.com

Phone: +1 (407) 768-2028

Original post:
Direct to consumer Genetic Testing Market Research Insight 2021 Complete Overview & Qualitative Analysis by Major Companiess like 23andMe,...

Nonacus, a provider of genetic testing products for precision medicine and liquid biopsy, and the University of Birmingham have partnered to develop a non-invasive test for bladder cancer. The test, which is expected to be available by mid-2022, will use highly sensitive liquid biopsy technology developed by Nonacus, and a panel of biomarkers validated by Dr. Rik Bryan and Dr. Douglas Ward from the Universitys Bladder Cancer Research Centre, to diagnose the disease from urine samples.

Bladder cancer is the seventh most common cancer in the developed world. In the UK, over 100,000 people a year are referred to hospital clinics that investigate for bladder cancer, usually after passing blood in their urine (haematuria). The first stage of investigation is usually cystoscopy, which involves inserting a camera into the bladder. Of these 100,000 patients, around 12% are subsequently diagnosed with bladder cancer, normally after a second invasive procedure to extract a biopsy.

Dr. Bryan, Director of the Bladder Cancer Research Centre, commented: While blood visible in the urine should always be investigated, over 80% of people who have a cystoscopy at a haematuria clinic are diagnosed with non-malignant conditions or have no abnormality. Unfortunately, the remaining 20% will need a further invasive procedure to confirm a diagnosis. What is required is a highly sensitive and specific, non-invasive test that can rapidly determine those who need a biopsy and those who do not, and a urine test is the obvious place to start.

While the liquid biopsy approach is attractive, the low levels of tumor DNA in a background of DNA from normal tissues require highly sensitive analytical techniques to obtain accurate results. However, researchers at the University started their work in the knowledge that Nonacus had successfully pioneered commercial non-invasive prenatal tests to identify low levels of fetal DNA in maternal blood samples. Moreover, the company was developing methods to allow confident and sensitive calling of mutations from as little as 10ng of DNA.

The researchers used deep sequencing of tumor DNA to identify mutations that are present in the majority of urothelial bladder cancers (UBCs). Their work, which was funded by Cancer Research UK and an MRC Confidence in Concept grant, involved sequencing 23 genes from tumor samples collected from 956 newly diagnosed, treatment-nave patients. This deep sequencing of genes identified 451 unique mutations that were present in over 96% of tumors. The researchers also demonstrated that these mutations were identifiable in urine samples collected at the same time as tumor sampling.

As the researchers have shown, mutated DNA in a urine sample can be extracted from cancer cells shed into the urine from the lining of the urinary tract or can be found as cell-free DNA fragments2. However, extracting DNA from the cancer cells provides more reliable amounts of DNA for the test, especially when only small volumes of urine may be available. Coupling the mutation panel with the unique molecular identifiers and the proprietary target capture technology provided by the Nonacus Cell3 Target will provide a much more sensitive test than the existing PCR-based approach. The researchers are already working on validating this combination in a further 600 cases (including non-cancer cases) and they expect to publish data on sensitivity and specificity within six months.

Nonacus intends to launch the new bladder cancer test within 12 months, and the final product will include access to bioinformatics software to help with analysis. The company expects the test will provide high sensitivity for all stages and grades of disease and will ensure the test is available worldwide to laboratories, hospitalsand clinics.

Promisingly, the original research also determined the influence of the mutations on cancer progression, time to recurrence, and overall and disease-specific survival in patients with non-muscle-invasive bladder cancer (NMIBC), and disease-specific survival in patients with muscle-invasive bladder cancer (MIBC), raising the possibility that the test could be used to stratify patients according to risk.

Chris Sale, CEO of Nonacus, commented: We expect this partnership to deliver better care and outcomes for patients by reducing the number of invasive procedures, providing earlier diagnosis and speeding up access to treatment for people with bladder cancer.

Tony Hickson, Chief Business Officer at Cancer Research UK, said: "As funders of much of the world-class, cutting-edge cancer research happening in the UK, we offer unique opportunities to commercial partners looking for early involvement in new discoveries. Having Nonacus on board to help transform promising findings in the lab into a new non-invasive test to diagnose bladder cancer is a testament to how commercial collaborations have the potential to transform the lives of patients. We are looking forward to seeing the next steps as the test is developed and rolled out to the UK and beyond.

Allen Knight, Chair of Trustees, Action Bladder Cancer UK, said: This really is very exciting and has the potential to make an incredible difference for patients and for Bladder Cancer treatment. Currently, urine tests do not accurately pick up bladder cancer, and invasive tests are required to confirm a diagnosis. A urine test that can rapidly determine who needs these tests will be a very welcome development. Many patients, myself included, find cystoscopies very uncomfortable at best, and they can have lasting side effects. This research could pave the way for routine screening, common in other cancers, but unavailable at present for Bladder Cancer."

For more of the latest science news, straight to your inbox, become a member of SelectScience for free today>>

Read the original here:
Birmingham University and Nonacus partnership - SelectScience

DUBLIN--(BUSINESS WIRE)--The "Global Genetic Testing Market 2021-2025" report has been added to ResearchAndMarkets.com's offering.

The genetic testing market is poised to grow by $5.39 billion during 2021-2025, progressing at a CAGR of about 12%.

The market is driven by the rising prevalence of genetic diseases and disorders, rising approval of advanced genetic testing products, and increasing affordability due to reduction in the cost of genetic testing.

The report on the genetic testing market provides a holistic analysis, market size and forecast, trends, growth drivers, and challenges, as well as vendor analysis covering around 25 vendors. The report offers an up-to-date analysis regarding the current global market scenario, latest trends and drivers, and the overall market environment. The genetic testing market analysis includes product segment and geographic landscape.

This study identifies the advancements in next-generation sequencing as one of the prime reasons driving the genetic testing market growth during the next few years. Also, the growing adoption of direct-to-consumer genetic tests in early disease diagnosis and the growing adoption of pharmacogenetic testing in reducing adverse drug events will lead to sizable demand in the market.

The publisher's robust vendor analysis is designed to help clients improve their market position, and in line with this, this report provides a detailed analysis of several leading genetic testing market vendors that include Abbott Laboratories, Agilent Technologies Inc., bioMerieux SA, Bio-Rad Laboratories Inc., F. Hoffmann-La Roche Ltd., Illumina Inc., Myriad Genetics Inc., QIAGEN NV, Quest Diagnostics Inc., and Thermo Fisher Scientific Inc.

Also, the genetic testing market analysis report includes information on upcoming trends and challenges that will influence market growth. This is to help companies strategize and leverage all forthcoming growth opportunities.

The study was conducted using an objective combination of primary and secondary information including inputs from key participants in the industry. The report contains a comprehensive market and vendor landscape in addition to an analysis of the key vendors.

Key Topics Covered:

Executive Summary

Market Landscape

Market Sizing

Five Forces Analysis

Market Segmentation by Product

Segmentation by Application

Customer Landscape

Geographic Landscape

Vendor Landscape

Vendor Analysis

Appendix

For more information about this report visit https://www.researchandmarkets.com/r/pwg97i

See the original post:
Global Genetic Testing (Equipment & Consumables) Market 2021-2025: Rising Approval of Advanced Genetic Testing Products and Increasing...

Researchers evaluated the clinical utility of genetic testing with MammaPrint 70-gene signature to determine how well this assay works in comparison with clinical assessment to determine the need for chemotherapy in women with breast cancer involving 0 to 3 lymph nodes. The phase 3 MINDACT findings, which included the survival outcomes of patients with an ultralow risk 70-gene signature, were presented during the 2021 American Society of Clinical Oncology Annual Meeting.

The 70-gene signature can identify patients with an ultralow risk of distant recurrence. These 1000 MINDACT patients had an excellent 8-year breast cancerspecific survival (BCSS) above 99%, regardless of clinical risk, and low rates of distant metastasis, explained Josephine Lopes Cardozo, MD, of the Netherlands Cancer Institute.

The median follow-up for disease assessment was 8.7 years. Of the 6693 patients enrolled in the study (ClinicalTrials.gov Identifier: NCT00433589), 1000 patients (15%) were identified as having an ultralow risk using 70-gene signature profiling and 67% of these patients were older than age 50. A majority of the patients were estrogen receptorpositive (99%), lymph nodenegative (80%), had grade 1 or 2 tumors (96%), and tumors below 2 cm in size (81%).

Continue Reading

Systemic therapy was administered in 83% of the study population; 69% of patients received endocrine therapy (ET), 14% received ET in combination with chemotherapy, and 16% did not receive adjuvant systemic therapy (AST). The trials primary endpoint was distant metastasis-free interval (DMFI).

At a median duration of 8 years, excellent DMFI and BCSS was observed in the low-risk and ultralow-risk group of patients. The 8-year DMFI for low-risk and ultralow-risk groups was 94.5% (95% CI, 93.6-95.3) and 97.0% (95% CI, 95.8-98.1), respectively. The 8-year DMFI in the ultralow-risk group who had not received AST was 97.8% (95% CI, 95.3-100). The 8-year DMFI in the ultralow-risk group who had received ET only was 97.4% (95% CI, 96.1-98.7). Based on the preliminary results after adjusting for tumor and treatment characteristics, DMFI for ultralow-risk vs low-risk groups had a hazard ratio (HR) 0.66 (95% CI, 0.46-0.95). The 8-year BCSS for genomic low-risk and ultralow-risk patients was 98.2% (95% CI, 97.7-98.7) and 99.6% (95% CI, 99.1-100), respectively.

We can confirm that the 70-gene signature can identify patients with ultralow risk of distant recurrence and these patients could be candidates for further de-escalation of treatment, further reducing overtreatment and the risk of side effects, concluded Dr Cordozo.

Disclosure: This research was supported by a grant from the EORTC Breast Group and the Netherlands Cancer Institute. Several study authors declared affiliations with biotech, pharmaceutical, and/or device companies. Please see the original reference for a full list of authors disclosures

Read more ofCancer Therapy Advisorscoverage of the 2021 ASCO Annual Meeting by visiting the conference page.

Reference

Cardozo JL, Drukker C, Schmidt M, et al. Outcome of patients with an ultralow risk 70-gene signature in the MINDACT trial. J Clin Oncol. 2021;39:(suppl 15; abstr 500). doi:10.1200/JCO.2021.39.15_suppl.500

View original post here:
MammaPrint 70-Gene Signature Identifies Ultralow-Risk Patients With Outstanding Prognosis in Breast Cancer - Cancer Therapy Advisor

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MORE FROM MICHIGAN: Sign up for our weekly newsletter

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

For more lifestyle news, follow us: Twitter:lifestyle_ie|Facebook:IE Lifestyle| Instagram:ie_lifestyle

Here is the original post:
Genetic health conditions every woman should know about - The Indian Express