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Archive for the ‘Genetic Testing’ Category

Is personalized screening more effective than annual mammograms in detecting breast cancer? This study aims to find out – Duluth News Tribune

A new national study aims to answer that question, and women are being recruited to participate at no cost in a comparison of the effectiveness of the two screening methods.

Its called the WISDOM study Women Informed to Screen Depending On Measures of risk and its sponsors include Blue Cross Blue Shield of North Dakota and Sanford Health.

The study has a goal of recruiting 100,000 women who have not had breast cancer between the ages of 40 and 74.

So far, 27,000 women have enrolled, including 6,000 from Sanford Health in North Dakota, South Dakota and Minnesota.

Study participation through Sanford currently leads among health systems, said Dr. Andrea Kaster, a doctor at the Edith Sanford Breast Center and one of 10 investigators conducting the study.

Mammogram screening recommendations vary, but generally doctors recommend that women between the ages of 40 and 74 get yearly scans.

Thats what Sanford still recommends, Kaster said. The age to stop screening is based on a discussion between the patient and provider, she said, taking risk factors into consideration.

With so many recommendations for breast cancer screening out there, it can be hard for patients and providers to know what the right approach is for them, she said.

Clinical studies like WISDOM help us use the latest in imaging and genetics along with a patients personal history to determine how best to screen women for breast cancer," she added. "Through this study, I hope that we will be able to contribute to developing a more personalized approach to breast cancer screening.

Dr. Greg Glasner, chief medical officer at Blue Cross Blue Shield of North Dakota, said if personalized screening proves effective, it could spare many women from the anxiety caused by false positives.

The results of the study have the potential to impact existing standards of practice on screening and prevention, diagnosis and treatment of breast cancer, he said. Supporting the WISDOM study by encouraging eligible members to participate in the study is an important step in its success.

Blue Cross Blue Shield of North Dakota will cover the cost of services a member may receive through the study, with no cost sharing or impact to the members preventive benefit accumulations.

Similarly, the Sanford Health Plan covers the cost of genetic testing, assessments and other expenses associated with the WISDOM study for its members who are enrolled in the study and are asked to be tested.

Women who are interested in enrolling can go online to learn more by visiting http://www.thewisdomstudy.org or edith.sanfordhealth.org/research/wisdom.

The study will last five years, but partial results will be released before the studys conclusion.

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Is personalized screening more effective than annual mammograms in detecting breast cancer? This study aims to find out - Duluth News Tribune

Prenatal and New-born Genetic Testing Market 2019 Break Down by Top Companies, Countries, Applications, Challenges, Trends, Opportunities and Forecast…

A new market report by Verified Market Research on the Prenatal and New-born Genetic Testing Market has been released with reliable information and accurate forecasts for a better understanding of the current and future market scenarios. The report offers an in-depth analysis of the global market, including qualitative and quantitative insights, historical data, and estimated projections about the market size and share in the forecast period. The forecasts mentioned in the report have been acquired by using proven research assumptions and methodologies. Hence, this research study serves as an important depository of the information for every market landscape. The report is segmented on the basis of types, end-users, applications, and regional markets.

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Leading Prenatal and New-born Genetic Testing manufacturers/companies operating at both regional and global levels:

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Germline Testing In Advanced Cancer Can Lead to Targeted Tx – Medscape

From 7% to nearly 9% of patients with advanced cancer were found to harbor a germline variant with targeted therapeutic actionability in the first study of its kind.

The study involved 11,974patients with various tumor types. All the patients underwent germline genetic testing from 2015 to 2019 at the Memorial Sloan Kettering Cancer Center (MSKCC) in New York City, using the next-generation sequencing panel MSK-IMPACT.

This testing identified 2043 patients (17.1%) with variants in cancer predisposition genes, including 849 patients (7.1%) who had targetable genes by strict criteria and 1003 patients (8.6%) by less strict criteria.

"Of course, these numbers are not static," commented lead author Zsofia K. Stadler, MD, a medical oncologist at MSKCC. "And with the emergence of novel targeted treatments with new FDA indications, the therapeutic actionability of germline variants is likely to increase over time.

"Our study demonstrates the first comprehensive assessment of the clinical utility of germline alterations for therapeutic actionability in a population of patients with advanced cancer," she added.

Stadler presented the study results during a virtual scientific program of the American Society of Clinical Oncology (ASCO) 2020.

Testing for somatic mutations is evolving as the standard of care in many cancer types, and somatic genomic testing is rapidly becoming an integral part of the regimen for patients with advanced disease. Some studies suggest that 9% to 11% of patients harbor actionable genetic alterations, as determined on the basis of tumor profiling.

"The take-home message from this is that now, more than ever before, germline testing is indicated for the selection of cancer treatment," said Erin Wysong Hofstatter, MD, from the Yale School of Medicine, New Haven, Connecticut, in a Highlights of the Day session.

Now, more than ever before, germline testing is indicated for the selection of cancer treatment. Dr Erin Wysong Hofstatter

An emerging indication for germline testing is the selection of treatment in the advanced setting, she noted. "And it is important to know your test. Remember that tumor sequencing is not a substitute for comprehensive germline testing."

For their study, Stadler and colleagues reviewed the medical records of patients with likely pathogenic/pathogenic germline (LP/P) alterations in genes that had known therapeutic targets so as to identify germline-targeted treatment either in a clinical or research setting.

"Since 2015, patients undergoing MSK-IMPACT may also choose to provide additional consent for secondary germline genetic analysis, wherein up to 88 genes known to be associated with cancer predisposition are analyzed," she said. "Likely pathogenic and pathogenic germline alterations identified are disclosed to the patient and treating physician via the Clinical Genetic Service."

A total of 2043 (17.1%) patients who harbored LP/P variants in a cancer predisposition gene were identified. Of these, 11% of patients harbored pathogenic alterations in high or moderate penetrance cancer predisposition genes. When the analysis was limited to genes with targeted therapeutic actionability, or what the authors defined as tier 1 and tier 2 genes, 7.1% of patients harbored a targetable pathogenic germline alteration.

BRCA alterations accounted for half (52%) of the findings, and 20% were associated with Lynch syndrome.

The tier 2 genes, which included PALB2, ATM, RAD51C, and RAD51D, accounted for about a quarter of the findings. Hofstatter noted that, using strict criteria, 7.1% of patients were found to harbor a pathogenic alteration and a targetable gene. Using less stringent criteria, additional tier 3 genes and additional genes associated with DNA homologous recombination repair brought the number up to 8.6%.

For determining therapeutic actionability, the strict criteria were used; 593 patients (4.95%) with recurrent or metastatic disease were identified. For these patients, consideration of a targeted therapy, either as part of standard care or as part of an investigation or research protocol, was important.

Of this group, 44% received therapy targeting the germline alteration. Regarding specific genes, 50% of BRCA1/2 carriers and 58% of Lynch syndrome patients received targeted treatment. With respect to tier 2 genes, 40% of patients with PALB2, 19% with ATM, and 37% with RAD51C or 51D received a PARP inhibitor.

Among patients with a BRCA1/2 mutation who received a PARP inhibitor, 55.1% had breast or ovarian cancer, and 44.8% had other tumor types, including pancreas, prostate, bile duct, gastric cancers. These patients received the drug in a research setting.

For patients with PALB2 alterations who received PARP inhibitors, 53.3% had breast or pancreas cancer, and 46.7% had cancer of the prostate, ovary, or an unknown primary.

The discussant for the paper, Funda Meric-Bernstam, MD, chair of the Department of Investigational Cancer Therapeutics at the University of Texas MD Anderson Cancer Center, Houston, pointed out that most of the BRCA-positive patients had cancers traditionally associated with the mutation. "There were no patients with PTEN mutations treated, and interestingly, no patients with NF1 were treated," she said. "But actionability is evolving, as the MEK inhibitor selumitinib was recently approved for NF1."

Some questions remain unanswered, she noted, such as, "What percentage of patients undergoing tumor-normal testing signed a germline protocol?" and, "Does the population introduce a bias such as younger patients, family history, and so on?"

It is also unknown what percentage of germline alterations were known in comparison with those identified through tumor/normal testing. Also of importance is the fact that in this study, the results of germline testing were delivered in an academic setting, she emphasized. "What if they were delivered elsewhere? What would be the impact of identifying these alterations in an environment with less access to trials?

"But to be fair, it is not easy to seek the germline mutations," Meric-Bernstam continued. "These studies were done under institutional review board protocols, and it is important to note that most profiling is done as standard of care without consenting and soliciting patient preference on the return of germline results."

An infrastructure is needed to return/counsel/offer cascade testing, and "analyses need to be facilitated to ensure that findings can be acted upon in a timely fashion," she added.

The study was supported by MSKCC internal funding. Stadler reports relationships (institutional) with Adverum, Alimera Sciences, Allergan, Biomarin, Fortress Biotech, Genentech/Roche, Novartis, Optos, Regeneron, Regenxbio, and Spark Therapeutics. Meric-Bernstram reports relationships with numerous pharmaceutical companies.

American Society of Clinical Oncology (ASCO) 2020: Abstract 1500, presented May 30, 2020.

Follow Medscape Oncology on Twitter for more cancer news: @MedscapeOnc.

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Germline Testing In Advanced Cancer Can Lead to Targeted Tx - Medscape

New on the job |India Today Insight – India Today

The post-Covid world will be a new and changed one. And this new world will give way to new jobs and careers. The pandemic has left no sector or industry untouched; especially hit are entertainment, aviation, real estate, hospitality and tourism. However, there are those that have, in some ways, benefitted--healthcare, edutech, information technology and consulting, among others. Does that mean that these sectors are poised to soar further once this global crisis is over?

TECH JOBS

Opportunities in the field of digital technology, with an emphasis on enterprise management systems which deal with controlling, monitoring and managing information technology (IT), infrastructure and its applications, will be the way forward. Logistics, marketing and secondary value chains, such as human resources, finance, and customer relationship management (CRM), may also witness a rise within organisations. Everything is rapidly going digital, and candidates equipped with know-how in cloud computing, machine learning, artificial intelligence, data analytics, robotic process automation and digital marketing will have high-growth career prospects, says Sandeep Pachpande, chairman, ASM Group of Institutes, Pune.

GENETIC TESTING

The pandemic has made it clear that there is a severe shortage of doctors, medical equipment, devices and raw materials in the country, which are needed to deal with a crisis of this magnitude. Now, more than ever, jobs in pharmaceutical companies and healthcare will soar and, along with it, requirement for online counseling, psychological aid and telemedicine, since many may avoid visiting hospitals for a long time to come. People have become vigilant about health concerns and general well-being as a consequence of Covid. Therefore, genetic testing, a field that identifies mutations in genes, proteins and chromosomes, could emerge as an advantageous career. Our genes contain all the information we need to maintain optimum health and fitness to reach correct and early diagnostics. At a time where we are struggling with a single virus, research in this field has grown immensely, says Chandni Luthra, director, FutureMed, a company that helps patients with proactive and preventive health planning.

ALSO READ | Online transition

CONTENT CREATORS

It is a golden time for careers in the area of OTT (over-the-top) platformsNetflix, Amazon Prime and Disney+ Hotstar, among many othersdelivering content over the internet. Software engineers, project managers, UX designers and creative producers are currently seeing a lot of opportunities. Content curators can make the most of this time as consumption of online content has gone up since the lockdown. Studying the current trends and interests related to online streaming will come in handy for scriptwriters, lyricists and screenplay writers to gain a newer understanding of the struggles of people in a state of crisis.

FOOD SCIENTISTS

The E-grocery sector has certainly been on an upswing since the lockdown. Making daily food essentials available to customers is a Herculean task, and any disruption in supply chains can lead to loss of perishable products. Hence, the need for greater workforce, better planning and last-mile connectivity across areas will lead to a surge in recruitment of agricultural scientists, environmental engineers and supply chain officials in agriculture-technology companies to help farmers manage crops, plan harvest, deal with water shortage and reach a greater consumer base. Food scientists will be all the more indispensable with consumers becoming extra cautious about their consumption habits and switching to nutrition-focused diets.

A shift to online payments becoming more popular is encouraging fin-tech companies to come up with contactless payment solutions. People should also keep an eye out for roles such as financial analysts, strategists and business developers.

ONLINE FACULTY

The new trend in education is to learn at a click. This has given edutech companies a massive user base since many have opted to utilise their time upskilling and reskilling. As remote learning grows, demand for faculty members, teachers, education consultants and social media specialists grows with it. We have received tremendous response from learners across the nation since the lockdown, says Nikhil Barshikar, founder and managing director of Imarticus Learning, an edutech platform. The accessibility of online learning modules from any device is making it easier for aspirants to learn from home. This new phase in learning is here to stay.

The Covid crisis has made it clear that businesses can run in the absence of workers in traditional office set-ups, and that people will have to become more efficient and innovative with their work for long-term survival. Keeping this in mind, students will have to review and re-align their career focus to join the workforce of tomorrow. The future is all about multi-specialties, resilience and adaptability.

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New on the job |India Today Insight - India Today

Aerpio Hosting Key Opinion Leader Call on a Novel Mechanism for the Treatment of Glaucoma – GlobeNewswire

CINCINNATI, June 08, 2020 (GLOBE NEWSWIRE) -- Aerpio Pharmaceuticals, Inc. (Aerpio) (Nasdaq: ARPO), a biopharmaceutical company focused on developing compounds that activate Tie2 to treat ocular diseases and diabetic complications, today announced that it is hosting a key opinion leader (KOL) call on a novel mechanism for the treatment of glaucoma on Friday, June 12, 2020 at 11:30am Eastern Time.

The call will feature presentations by Dr. Paul Kaufman M.D. (University of Wisconsin) and Dr. Janey Wiggs, M.D., Ph.D. (Massachusetts Eye and Ear Infirmary and Harvard Medical School), who will discuss the current glaucoma treatment landscape and unmet medical needs, as well as the role of the Tie2 receptor in maintaining intraocular pressure. Drs. Kaufman and Wiggs will be available to answer questions at the conclusion of the event.

Aerpio's management team will also discuss its pipeline candidate, razuprotafib (formerly AKB-9778), for treating patients with glaucoma. Razuprotafib is a small molecule inhibitor that restores Tie2 activation in Schlemms canal and lowers intraocular eye pressure (IOP) via decreasing resistance to outflow from the eye. Razuprotafib has been formulated as a once or twice-daily topical eye drop and is entering a Phase 2 clinical trial in Q3:20, with top line data expected in Q1:21.

Aerpio recently announced positive and statistically significant intraocular eye pressure (IOP) reduction in a Phase 1b trial of 43 glaucoma patients, when razuprotafib was added to prostaglandin treatment. This data set is summarized here.

Paul Kaufman, M.D. is the Ernst H. Brny Emeritus Professor of Ocular Pharmacology and past Chair of the Department of Ophthalmology & Visual Sciences at the University of Wisconsin School of Medicine and Public Health, in Madison, Wisconsin. He is a physician-scientist, specializing in glaucoma and studying the mechanisms of aqueous humor formation and drainage, and the age-related loss of near vision. Dr Kaufman is a past President and past Executive Vice President of the Association for Research in Vision and Ophthalmology (ARVO), past President of the International Society for Eye Research (ISER), and has served on the US National Advisory Eye Council and numerous foundation and corporate scientific advisory boards. He has had continuous research funding from the US National Eye Institute for 40 years and from numerous private foundations, has authored over 375 original scientific articles and 75 book chapters, co-edited several textbooks including the most recent editions of Adlers Physiology of the Eye, and received numerous honors and awards including the Friedenwald Award from ARVO and the Balazs Prize from ISER. He was Editor-in-Chief of Investigative Ophthalmology & Visual Science from 2008 through 2012. Dr. Kaufman also holds an honorary Doctor of Medicine degree from Uppsala University in Sweden, where he was a post-doctoral research fellow.

Janey L. Wiggs, M.D., Ph.D. is a physician-scientist at the Massachusetts Eye and Ear Infirmary and Harvard Medical School. She is currently the Paul Austin Chandler Professor of Ophthalmology and is the Vice Chair for Clinical Research in Ophthalmology at Harvard Medical School. She also directs the CLIA-certified genetic testing laboratory at the Massachusetts Eye and Ear Infirmary and is a co-director of the Ocular Genomics Institute and co-director of the Glaucoma Center of Excellence. Dr. Wiggs received her B.A. and Ph.D. degrees in biochemistry from the University of California at Berkeley and her M.D. degree from Harvard Medical School. She did post-doctoral training in molecular genetics under the direction of Dr. Ted Dryja. Dr. Wiggs completed the ophthalmology residency at the Massachusetts Eye and Ear Infirmary and received fellowship training in glaucoma and also in medical genetics and is certified by the both the American Board of Ophthalmology and the American Board of Medical Genetics. Dr. Wiggs research program is focused on the discovery and characterization of genetic factors that contribute to the blinding eye disease glaucoma and is funded by the National Eye Institute (NEI) as well as other nonprofit foundations. She is investigating the genetic etiologies of both early-onset and adult forms of glaucoma and is the PI of the NEIGHBORHOOD consortium for gene discovery in primary open angle glaucoma and is a founding member of the International Glaucoma Genetics Consortium (IGGC). She has also participated in research programs funded by the US-INDO joint working group (NEI) and the NEI eyeGENE consortium. Dr. Wiggs was the inaugural chair of the Genetics Group for ARVO and is an ARVO gold fellow. She currently serves on the editorial boards of IOVS, JAMA Ophthalmology, Molecular Vision, Journal of Glaucoma, and Annual Reviews in Vision Science. She is a member of the scientific advisory boards for the Glaucoma Research Foundation, Research to Prevent Blindness and the Glaucoma Foundation, and is a past member of the Advisory Council of the National Eye Institute. She has received the Heed Award, the Heed/Knapp Award, the Research to Prevent Blindness Scholar Award, the AAO Honor Award, the Lew Wasserman Merit Award, the Alcon Research Award, the David L. Epstein award from the ARVO Foundation and was a winner of the NEI Audacious Goal competition. She is an elected member of the Glaucoma Research Society, the American Ophthalmological Society, the Academia Ophthalmologica Internationalis and the National Academy of Medicine.

About RazuprotafibRazuprotafib binds to and inhibits vascular endothelial protein tyrosine phosphatase (VE-PTP), an important negative regulator of Tie2. Decreased Tie2 activity contributes to vascular instability in many diseases including diabetes and more recently has been shown to contribute to the development of increased IOP and glaucoma. Razuprotafib activates the Tie2 receptor irrespective of extracellular levels of its binding ligands, angiopoietin-1 (agonist) or angiopoietin-2 (antagonist) and may be the most efficient pharmacologic approach to maintain normal Tie2 activation. Aerpio is studying a topical ocular formulation of razuprotafib in open angle glaucoma and exploring the utility of subcutaneous razuprotafib for diabetic complications, including diabetic nephropathy.

About Aerpio PharmaceuticalsAerpio Pharmaceuticals, Inc. is a biopharmaceutical company focused on developing compounds that activate Tie2 to treat ocular diseases and diabetic complications. Recently published mouse and human genetic data implicate the Angpt/Tie2 pathway in maintenance of Schlemms canal, a critical component of the conventional outflow tract. The Companys lead compound, razuprotafib (formerly AKB-9778), a first-in-class small molecule inhibitor of vascular endothelial protein tyrosine phosphatase (VE-PTP), is being developed as a potential treatment for open angle glaucoma, and the Company intends to investigate the therapeutic potential of razuprotafib in other indications. The Company is also evaluating development options for ARP-1536, a humanized monoclonal antibody, for its therapeutic potential in the treatment of diabetic vascular complications including nephropathy and diabetic macular edema (DME). The Companys third asset is a bispecific antibody that binds both VEGF and VE-PTP which is designed to inhibit VEGF activation and activate Tie2. This bispecific antibody has the potential to be an improved treatment for wet age-related macular degeneration and DME via intravitreal injection. Finally, the Company has exclusively out-licensed AKB-4924 (now called GB004), a first-in-class small molecule inhibitor of hypoxia-inducible factor-1 (HIF). GB004 is being developed by AKB-4924s exclusive licensor, Gossamer Bio, Inc. (Nasdaq: GOSS). For more information, please visit http://www.aerpio.com.

Forward Looking StatementsThis press release contains forward-looking statements. Statements in this press release that are not purely historical are forward-looking statements. Such forward-looking statements include, among other things, the Companys product candidates, including razuprotafib, ARP-1536 and the bispecific antibody asset, the clinical development plan therefor and the therapeutic potential thereof, the Companys plans and expectations with respect to razuprotafib and the development therefor and therapeutic potential thereof in addressing COVID-19 and the intended benefits from the Companys collaboration with Gossamer Bio for GB004, including the continued development of GB004 and the milestone and royalty payments related to the collaboration. Actual results could differ from those projected in any forward-looking statements due to several risk factors. Such factors include, among others, the continued development of GB004 and maintaining and deriving the intended benefits of the Companys collaboration with Gossamer Bio; ability to continue to develop razuprotafib or other product candidates, including in indications related to COVID-19; the inherent uncertainties associated with the drug development process, including uncertainties in regulatory interactions, the design of planned or future clinical trials, commencing clinical trials and enrollment of patients in clinical trials; obtaining any necessary regulatory clearances in order to commence and conduct planned or future clinical trials; the impact of the ongoing COVID-19 pandemic on the Companys business operations, including research and development efforts and the ability of the Company to commence, conduct and complete its planned clinical activities; and competition in the industry in which the Company operates and overall market conditions; and the additional factors set forth in our Annual Report on Form 10-K for the year ended December 31, 2019, as updated by our subsequent Quarterly Reports on Form 10-Q and our other subsequent filings with the SEC.

These forward-looking statements are made as of the date of this press release, and the Company assumes no obligation to update the forward-looking statements, or to update the reasons why actual results could differ from those projected in the forward-looking statements, except as required by law. Investors should consult all the information set forth herein and should also refer to the risk factor disclosure set forth in the reports and other documents the Company files with the SEC available at http://www.sec.gov.

Investors & Media:Gina MarekVP Financegmarek@aerpio.comOrInvestors:Irina KofflerLifeSci Advisorsikoffler@lifesciadvisors.com

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Aerpio Hosting Key Opinion Leader Call on a Novel Mechanism for the Treatment of Glaucoma - GlobeNewswire

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How COVID-19 Pandemic Will Impact Clinical Oncology Next Generation Sequencing Market Business Opportunity, And Growth 2020-2026 – Jewish Life News

Trusted Business Insights answers what are the scenarios for growth and recovery and whether there will be any lasting structural impact from the unfolding crisis for the Clinical Oncology Next Generation Sequencing market.

Trusted Business Insights presents an updated and Latest Study on Clinical Oncology Next Generation Sequencing Market 2019-2026. The report contains market predictions related to market size, revenue, production, CAGR, Consumption, gross margin, price, and other substantial factors. While emphasizing the key driving and restraining forces for this market, the report also offers a complete study of the future trends and developments of the market.The report further elaborates on the micro and macroeconomic aspects including the socio-political landscape that is anticipated to shape the demand of the Clinical Oncology Next Generation Sequencing market during the forecast period (2019-2029).It also examines the role of the leading market players involved in the industry including their corporate overview, financial summary, and SWOT analysis.

Get Sample Copy of this Report @ Clinical Oncology Next Generation Sequencing Market Size Report 2025 (Includes Business Impact of COVID-19)

Industry Insights, Market Size, CAGR, High-Level Analysis: Clinical Oncology Next Generation Sequencing Market

The global clinical oncology next generation sequencing market size was estimated at USD 627.2 million in 2018. Significant increase in the adoption of genome-focused pharmacology for cancer treatment is expected to provide growth avenues for the market. NGS serves as one of the highly advanced genomic techniques for the analysis of mutations that lead to cancer progression.The growth of the market is supplemented by decrease in the cost of genetic sequencing, advancements in the field of personalized medicine and oncology, rise in prevalence of cancer, globally, and increase in adoption of this technique over single-gene testing. Since this technique is more reliable than Sanger sequencing for diagnosis, the market is expected to witness substantial growth over the forecast period.

Breakthrough advancements in the development of genetic-based tests for oncology and other disorders during the past few years have significantly propelled market growth. Next generation sequencing technology offers a better understanding of tumor mechanism, thus enabling rational drug design. As a result, more products are expected to get commercialized in the near future.A rise in oncology-related spending is further expected to fuel market growth in the coming years. Government organizations are focused on encouraging patients to regularly undergo diagnostic examinations to reduce oncology-related healthcare expenditures. As per data estimates, healthcare expenditure is anticipated to rise significantly, thereby influencing the adoption of NGS diagnostics platforms.The biotechnology industry is marked by high competition and so is the NGS market for clinical as well as research applications. Prominent participants are actively involved in R&D to develop novel rapid, small, and less expensive platforms. Service providers are embracing the trend of increasing the amount of constructed sequence reads for each cycle run.Commercially available sequencing platforms analyze both DNA and RNA samples. Key players aim to increase the utility of high throughput technologies for clinical applications. The acquisition of smaller entities operating in the market is also one of the strategic initiatives adopted by players to maintain a competitive position. For instance, in May 2018, Illumina acquired Edico Genome to accelerate data analysis for its next generation sequencing platforms.

Technology Insights of Clinical Oncology Next Generation Sequencing Market

Targeted sequencing in clinical oncology accounted for the largest revenue share in 2018 and is expected to maintain its share over the forecast period. Targeted sequencing and resequencing encompasses shortest read lengths and is one of the conventional forms of commercially available sequencing technology. Moreover, focused panels for targeted cancer sequencing aid in the reduction of cost burdens owing to reduction in the amount of data to be analyzed. As targeted cancer sequencing evaluates a limited gene-set, it can be used to analyze variations in rare tumor sub-clones with greater sensitivity and deep coverage.The whole-genome sequencing segment is expected to grow at the fastest rate through 2025. Application of whole genome sequencing technology for comparisons between tumor tissue and normal tissue in clinical oncology is attributive to segment growth. Developed rapid, large-capacity sequencers such as HiSeq and MiSeq series find application in largescale whole genome sequencing.Workflow InsightsNGS workflow includes library preparation, sample enrichment, sample quality assurance, DNA tagging, sequencing, DNA quantification, genetic data assemble, data storage and analysis, and interpretation. Sequencing accounted for the largest share in the clinical oncology NGS market as it is the most important and crucial step in the entire process and involves the usage of sophisticated platforms. Continuous R&D has led to the introduction of novel, benchtop, or portable NGS sequencing platforms, thereby complimenting market growth. Moreover, NGS platforms are expected to witness lucrative growth throughout the forecast period owing to the expected increase in adoption and usage rates of whole-genome sequencing.

Application Insights of Clinical Oncology Next Generation Sequencing Market

Next generation sequencing finds application in the field of clinical oncology for screening, companion diagnostics, and others. The adoption of NGS-based molecular diagnosis for oncology has increased as this technology allows concurrent sequencing of several target genes and provides rich diagnostic markers for the development of molecular diagnostic assays.Application of NGS technology in the field of oncology ensures early diagnosis so that treatment measures can be taken in time. Therefore, the arrival of NGS for cancer diagnosis has opened many new frontiers in the field. For instance, large-scale projects such as International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA) have issued data from thousands of tumors across major cancer types. This data can be used to have a comprehensive overview of cancerous cells and help enhance prognostic and therapeutic applications.The market for companion diagnostics is expected to grow significantly in the coming years owing to numerous benefits offered by the technique in the field of oncology. Currently, available companion diagnostic products are applicable for non-small cell lung cancer, melanoma, colorectal, ovarian, and breast cancers.End-use InsightsBy way of end use, the clinical oncology next generation sequencingmarket has been segmented into hospitals, clinics, and laboratories. Laboratories held a prominent share in the market for clinical oncology NGS and this trend is likely to continue over the forecast period. The hospitals segment is expected to register a significant CAGR through 2025. Rise in adoption of NGS services in hospitals to determine the rate of disease progression and scale-up the appropriate treatment regimen for cancer is anticipated to influence growth in this segment.

Provision of clinical services by leading players in the market such as Illumina, which includes CLIA certified tests for predisposition screening, is anticipated to boost revenue in the coming years. Clinics utilize NGS technology to identify novel cancer mutations, for genetic testing for hereditary cancer syndrome, for personalized oncology treatment, and for detection of circulating DNA for cancer.

Regional Insights of Clinical Oncology Next Generation Sequencing Market

North America occupied the largest share in the global market in 2018 owing to increased focus of government bodies on cancer treatment, rise in healthcare expenditure, and presence of adequate healthcare infrastructure. Moreover, high prevalence of cancer, growing demand for personalized medicine, well-developed healthcare facilities, and availability of novel diagnostics techniques, especially in the field of oncology, can be attributed to the estimated market share of the region. Additionally, growing morbidity and mortality due to cancer has increased the need for development of novel therapies, thereby driving this regional market.Asia Pacific is expected to be the fastest-growing region throughout the forecast period majorly due to continuous reforms in the healthcare and pharmaceutical industries in the region. Other factors contributing to this growth are untapped markets in emerging economies. The market is continuously driven by rise in cancer incidence across Asia Pacific. China dominates the cancer burden in the region, followed by India, Japan, Indonesia, and the Republic of Korea. The top three types of cancer with his incidences in the region are breast, lung, and prostate cancer.

Market Share Insights of Clinical Oncology Next Generation Sequencing Market

The global market is marked by the presence of high competition among market players. Illumina and Roche account for a substantial share owing to wide product offerings in the field of next-generation sequencing for cancer. Other prominent players operating in this market space include Agilent; Thermo Fisher Scientific; Myriad Genetics; Beijing Genomics Institute (BGI); Perkin Elmer, Inc.; Qiagen NV; Partek, Inc.; Pacific Bioscience, Inc.; Foundation Medicine; Oxford Nanopore Technologies Ltd.; Paradigm Diagnostics, Inc.; Caris Life Sciences; and Eurofins Scientific.

Segmentations, Sub Segmentations, CAGR, & High-Level Analysis overview of Clinical Oncology Next Generation Sequencing Market Research ReportThis report forecasts revenue growth at global, regional, and country levels and provides an analysis of latest industry trends in each of the sub-segments from 2014 to 2025. For the purpose of this study, this market research report has segmented the globalclinical oncology next generation sequencing market report on the basis of technology, workflow, application, end use, and region:

Technology Outlook (Revenue, USD Million, 2019 2030)

Whole Genome Sequencing

Whole Exome Sequencing

Targeted Sequencing & Resequencing

Workflow Outlook (Revenue, USD Million, 2019 2030)

NGS Pre-Sequencing

NGS Sequencing

NGS Data Analysis

Application Outlook (Revenue, USD Million, 2019 2030)

Screening

Sporadic Cancer

Inherited Cancer

Companion Diagnostics

Others

End-use Outlook (Revenue, USD Million, 2019 2030)

Hospitals

Clinics

Laboratories

Quick Read Table of Contents of this Report @ Clinical Oncology Next Generation Sequencing Market Size Report 2025 (Includes Business Impact of COVID-19)

Trusted Business InsightsShelly ArnoldMedia & Marketing ExecutiveEmail Me For Any ClarificationsConnect on LinkedInClick to follow Trusted Business Insights LinkedIn for Market Data and Updates.US: +1 646 568 9797UK: +44 330 808 0580

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How COVID-19 Pandemic Will Impact Clinical Oncology Next Generation Sequencing Market Business Opportunity, And Growth 2020-2026 - Jewish Life News

Better Genetic Testing Means Less Expensive And Emotionally Taxing Diagnosis – International Business Times

If a child is displaying unusual or rare symptoms and a doctor suspects that they may be genetic in origin, it can begin a cycle of testing that research has indicated could last aslong as 77 monthsor even longer. This is obviously a painstaking process, but doctors are under tremendous pressure to get the diagnosis right. A lot of time is spent analyzing testing options using the available knowledge of symptoms and previous literature in order to pinpoint the exact genetic test to order.

We must remember that there are about 20,000 genes in the human genome. Of which some 5,000 are recognized to be associated with at least one disease, if not more, and each disease can be associated with dozens of clinical symptoms. Imagine solving a puzzle with 5,000 to 20,000 pieces. But it is even more complicated than that. It becomes a puzzle within the puzzle. The way the genome is set up is that each gene is broken up into different pieces in and of itself. On top of that, there may be important variants within any of those pieces. Genetic testing has traditionally been a lot like fishing in a huge lake.

Historically, genetic testing has been disjointed with so much trial and error. The problem comes with continued negative results. It forces ordering of additional testing in order to identify variants that could be the genesis of the problem. Imagine if an accomplished fisherman was charged every single time he or she threw a lure into a lake. The costs would quickly add up.

Genetic testing becomes a repetitive cycle that causes families emotional and financial stress. The averagenumber of genetic testsa person with a rare disease goes through is four, with some patients having to undergo more than 10. These tests are extremely expensive and some can be quite invasive. Studies have shown theaverage cost of diagnosisreaching $21,099. All of this is referred to as a diagnostic odyssey, where an unfortunate result is delays in diagnoses that can effectively close the treatment window in cases where early treatment improves the prognosis.

Tests developed 10 to 15 years ago are still being run today by laboratories. However, genomic technologies have become more available and accessible recently and it is now possible to look at everything at once using whole genome testing. This new approach to genetic testing is not so much like fishing in a huge lake anymore. This new approach provides the most useful diagnostic data with a single test that is easier on patients and families and provides the shortest time to a diagnosis and the best chance at implementing treatments and eliminating the diagnostic odyssey.

Morestudiesare showing the clinical utility of sequencing the whole genome as acost-effective solution, saving as much as seven times the average cost of standard care. Clinicians ordering a single whole genome sequencing test right off the batprovide patients a better chance of not having to endure the long, cumbersome, and costly process ofmultiple single-gene tests. With whole genome sequencing , a patient needs only one sample and one turnaround time for the greatest chance to arrive at the correct diagnosis.

Just as important, with whole genome sequencing, negative test results do not require once again starting from scratch. If a new gene associated with the patient's suspected disease is reported the next day, and that patient had a variant in that gene, a clinician can make the connection through data reanalysis rather than by bringing the patient back in for a new sample.

Specifically, advances in whole genome sequencing bypass the mechanical step of isolating genes first. Analysis of the large amounts of data generated is made possible by the use of sophisticated algorithms applied via software that identifies variants that labs do not typically see when one starts by isolating genes. Variants can then be ranked by looking at genes that most closely match the patient's clinical symptoms or known inheritance patterns. For the first time, a broad set of variants can be looked at through two lenses: one that shows the severity of the identified changes, and the other that matches the changes with the clinical symptoms of the patient.

These are the ways whole genome testing is revolutionizing the entire genetic testing industry by providing a comprehensive analysis with the shortest time to diagnosis and thus saving patients a lot of money and the emotional toll that comes with a long wait for a diagnosis.

Christine Stanley, PhD, is the Chief Director of Clinical Genomics for Variantyx

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Better Genetic Testing Means Less Expensive And Emotionally Taxing Diagnosis - International Business Times

‘Why our child?’: 10,000 couples to be tested for genetic mutations – Sydney Morning Herald

Cooper died on June 27, 2019. He had six months of bubble baths, music and nuzzling into his parents chests.

We ask ourselves: Why our child? Why is any child born with genetic conditions to parents who had no idea they even existed?', Mrs Tierney said.

Cooper Tierney died at 6 months old from mitochondrial disease caused by a genetic mutation on the gene REDFOX1.

This could happen to anybody. We never want to go through that again.

Earlier this year the Tierneys were among the first couples in Australia to undergo free genetic testing for more than 1300 genes linked to over 750 rare diseases parents can potentially pass on to their children.

Tuesday marks the official launch of the $20 million Mackenzies Mission trial.

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The landmark preconception carrier testing trial is unprecedented, screening 10,000 couples for conditions including, spinal muscular atrophy (SMA), cystic fibrosis, fragile X syndrome and Coopers mitochondrial complex 1 deficiency.

The trial is designed to pave the way for carrier testing for any couple who wants it, co-lead investigator Edwin Kirk said.

I am very hopeful and hugely optimistic that we will be able to make a huge difference for Australian couples, Dr Kirk said.

We are talking about potentially hundreds of children a year who are born with severe, sometimes lethal, conditions whose parents only find out they had an increased chance of that condition after the child is born.

Health Minister Greg Hunt has said he wants a national screening program within 10 years.

Jonathan and Rachael Casella hold their baby daughter Mackenzie who was diagnosed with SMA and died at seven months.

The federal government-funded trial is named after Rachael and Jonathan Casellas daughter, Mackenzie, who was diagnosed with the most severe form of SMA and died at seven months in October 2017.

Mackenzies story has driven all of us working on the project, Dr Kirk said.

This information enables couples who learn they share the same genetic mutation to make informed decisions about family planning and full reproductive choice. They are also spared a 'diagnosis odyssey'- the painful and protracted search for the cause of their childs mysterious illness in the hope of finding a treatment.

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Geneticists estimate everyone carries between three and five recessive genes for serious conditions. When both parents carry the same mutation, their child has a one in four chance of developing the corresponding genetic condition, and a one in two chance their child will be a carrier.

Would-be parents will be told they have a genetic mutation only if both individuals carry the same mutation for one of the conditions, roughly 1 per cent of the couples tested.

The trial is being coordinated by the Australian Genomics research network with laboratories in NSW, the ACT, Victoria and Western Australia.

Couples are recruited by participating GPs and other healthcare practitioners.

Investigators planned to eventually recruit pregnant women in their first trimester once they can be sure the COVID-19 pandemic will not delay test results.

The Tierneys jumped at the opportunity to participate in the pilot phase of the trial.

We are extremely thankful we were able to be part of this, Mrs Tierney said. It is very daunting looking into the unknown, but getting tested was the best thing we could have done for ourselves, for our children and for all the generations that come afterwards."

Cooper Tierney's parents hope his story will help inform other couples about the potential risk of genetic mutations.

Kate Aubusson is Health Editor of The Sydney Morning Herald.

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'Why our child?': 10,000 couples to be tested for genetic mutations - Sydney Morning Herald

Direct-to-consumer Genetic Testing Market In-deep Analysis and Clinical Aspect Review 2020-2026 – Cole of Duty

Final Report will add the analysis of the impact of COVID-19 on this industry.

Market Insight Reportshas released a new report on theDirect-to-consumer Genetic TestingMarket. This report offers a comprehensive evaluation of the market. It does so via in-depth insights, understanding market evolution by tracking historical developments, and analysing the present scenario and future projections based on optimistic and likely scenarios. The report gives the detailed statistics about the market industries and their framework. The data which has been studied for preparing the report considers the existing key players as well as upcoming key players of the market.

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Top Companies operating in the Global Direct-to-consumer Genetic Testing market profiled in the report : Quest Diagnostics, Laboratory Corporation of America, Myriad Genetics, African Ancestry, Gene by Gene, WeGene, MapMyGenome, Thermo Fisher, Color Genomics, Pathway Genomics, 23andMe, Helix

In addition, the Direct-to-consumer Genetic Testing Market report also caters the detailed information about the crucial aspects such as driving factors & challenges which will define the future growth of the market also the SWOT analysis that concludes the strengths, weaknesses, opportunities and threats impacting the segment of the overall market.

Global Direct-to-consumer Genetic Testing Market Split by Product Type and Applications:

Market Segment by Type, covers:

Disease Risk and HealthAncestry or GenealogyKinshipLifestyleMarket Segment by Applications, covers:

On-line SalesDoctors OfficeRegional Analysis For Direct-to-consumer Genetic Testing Market:

North America (United States, Canada and Mexico)Europe (Germany, France, UK, Russia and Italy)Asia-Pacific (China, Japan, Korea, India and Southeast Asia)South America (Brazil, Argentina, Colombia etc.)Middle East and Africa (Saudi Arabia, UAE, Egypt, Nigeria and South Africa)

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Influence of the Direct-to-consumer Genetic Testing Market Report:

-Comprehensive assessment of all opportunities and risk in the Direct-to-consumer Genetic Testing market.

-Direct-to-consumer Genetic Testing market recent innovations and major events.

-Detailed study of business strategies for growth of the Direct-to-consumer Genetic Testing market-leading players.

-Conclusive study about the growth plot of Direct-to-consumer Genetic Testing market for forthcoming years.

-In-depth understanding of Direct-to-consumer Genetic Testing market-particular drivers, constraints and major micro markets.

-Favourable impression inside vital technological and market latest trends striking the Direct-to-consumer Genetic Testing market.

What are the market factors described in the report?

-Key Strategic Developments:This research includes R & D, new product launches, M & A, contracts, collaborations, partnerships, joint ventures, and global and regional scale.

-Key market features:Report, revenue, price, capacity, capacity utilization,total volume, production volume, production volume, consumption volume, import / export, supply / demand, cost, market share, CAGR, gross profit, etc. Evaluated the key market characteristics.In addition, this study provides a comprehensive survey of key market dynamics and their latest trends, along with relevant market segments and subsegments.

-Analytical Tools: TheGlobal Direct-to-consumer Genetic Testing Market Report contains accurately surveyed and evaluated data of the key industry players and their range in the market using several analytical tools.We analysed the growth of key players operating in the market using analytical tools such as Porters Five Forces Analysis, SWOT Analysis, Feasibility Studies, and Return on Investment Analysis

Note-All the reports that we list have been tracking the impact of COVID-19 the market. Both upstream and downstream of the entire supplychain has been accounted for while doing this. Also, where possible, we will provide an additional COVID-19 update supplement/report to the report in Q3, please check for with the sales team.

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Direct-to-consumer Genetic Testing Market In-deep Analysis and Clinical Aspect Review 2020-2026 - Cole of Duty

What gives the mighty mule its endurance? Researchers investigate – Horsetalk

A mule named Juancito at work on the Mitre Peninsula, in Tierra del Fuego, Argentina. Photo: Dario u, public domain, via Wikimedia Commons

Mules are renowned worldwide for their outstanding muscular endurance, but what gives them this ability to outshine their horse and donkey parents?

Hybrid vigor has long been recognised and widely exploited in animal and plant breeding programs to enhance the productive traits of hybrid progeny from two breeds or species.

However, its underlying genetic mechanisms remain enigmatic.

Researchers from Northwest A&F University in Yangling, China, set out to understand more about the molecular mechanisms at work in mules that provide this superior muscular endurance.

Their genetic testing of samples from crosses between donkeys and horses mapped a total of 68 genes in the muscle contraction pathway, eight of which were found to be significantly enriched in mules.

In the hybrid individuals and their parents, one of these enriched genes, TNNC2, was mainly expressed in the fast skeletal muscle. Its expression level was found to be two times higher in the mule than in the horse.

They said their work, in which muscle, brain, and skin samples from mules, hinnies and their parents were tested, revealed significant differences between mules and hinnies, as well as differences between mules and both of their parents.

Apart from skeletal muscle tissue, which is the main difference which separates mules from hinnies and their parents, there are also clear differences between these animals in both the brain and skin.

The findings, they say, provide new insights into the genetic mechanism underlying hybrid vigor in mules.

The work could provide the basis for future studies of the genetic and molecular mechanism of hybrid vigor in donkeys and horses.

Gao, S.; Nanaei, H.A.; Wei, B.; Wang, Y.; Wang, X.; Li, Z.; Dai, X.; Wang, Z.; Jiang, Y.; Shao, J. Comparative Transcriptome Profiling Analysis Uncovers Novel Heterosis-Related Candidate Genes Associated with Muscular Endurance in Mules. Animals 2020, 10, 980.

The study, published under a Creative Commons License, can be read here.

Continued here:
What gives the mighty mule its endurance? Researchers investigate - Horsetalk

Smith shares story of her battle with cancer – Waynesboro Record Herald

Editor's note: This is a feature from the Waynesboro Area Gala Cancer Auction Committee that shares a community member's fight against cancer. The articles were in advance of the 2020 auction, which has been canceled because of the COVID-19 pandemic.

Listen to your body. If its telling you somethings just not right, pay attention, Cindy Smith advises. A year ago, February 2019, her symptoms began. They might well have indicated irritable bowel or acid reflux, but neither scenario fit how she was feeling. By March she finally couldnt ignore the messages her body was sending her. When the sharp abdominal pains that at first occurred only briefly in the morning hit her midafternoon, she gave in and consulted gastroentrologist Andrew Lininger at WellSpan Health in Waynesboro. Within less than 24 hours, he called with the results of her CT scan that revealed a golf ball-sized growth in her abdomen. The colonoscopy that followed was unsuccessful because of a bowel blockage and within the week Cindy was meeting with Dr. Joshua Kesterson at Hershey Medical center. My doctors were wonderful, Cindy shared. I cant believe how quickly they acted and how compassionate they were.

On March 21, 2019 surgery performed at Hershey successfully removed Cindys ovaries, the large tumor and a few much smaller ones from her diaphragm everything Dr. Kesterson was able to find. Two weeks later, April 3, the diagnosis was confirmed stage three ovarian cancer that had spread to the area between her bladder and colon. Cindy was stunned. As she recalls the scene, When the doctor started explaining things he sounded like the teacher on the Charlie Brown cartoons Wa wa, wa wa, wa wa. It was unreal. I couldnt comprehend it was really happening. Id been so healthy my whole life. How? How did this happen? I couldnt make sense of it.

April 24 began a series of six three-treatment sessions, a total of 16 over the next five months. One of the repeated treatments took six hours and another lasted eight. Cindy opted for the most aggressive chemo that involved the insertion of two ports one on the front of her shoulder feeding directly into her blood stream and another on her stomach feeding directly into her abdominal cavity. The second was notorious for being very intense and painful, flooding the entire abdominal area with drugs. Most patients were able to endure less than half of the bag of medication, but Cindy quickly earned the handle of Rock Star by taking on the entire dosage with her worst discomfort during the infusion being an uncomfortable distention of her stomach. Three days later, when the steroids and anti-nausea medication wore off she crashed. I spent all of those months in a recliner totally exhausted, no appetite or taste buds to tolerate food. I lost 30 pounds. Sometimes I tried to do small chores in the kitchen, but twice I had to sit down, call for my husband Alan, and actually pass out with my head resting on the table. For the two days needed to complete each of her sessions at Hershey, Alan had a recliner delivered to Cindys sister Tamis house in Hummelstown just five miles from Hershey where they stayed along with their faithful dogs, Sofi and Gracie. The gauntlet finally ended on Aug. 14.

On Sept. 11 following her rebound to strength after the final treatment, CT scans and a CA125 blood test that checks for cancer markers revealed that Cindy was cancer free. Genetic testing that followed was good news for her daughters Tracye and Mandy because the strain isnt passed on, but not so good for Cindy. Her cancer is notorious for recurring and requires significant post treatment to discourage that. Maintenance therapy demands constant monitoring to achieve the proper balance that keeps the cancer at bay but doesnt deplete her hemoglobin and platelet counts.

Still, after all those months she was starting to feel like Cindy again sleeping in a real bed and taking a trip to the beach. But then her counts dropped so low, some essentially zero, that she was hospitalized for a few days. After transfusions and medication, she bounced back as her doctor made adjustments to find the right dosage. The newest and to date most effective maintenance drug for Cindys condition is called Zejula and fortunately she has been approved to receive it at no cost - a type of clinical trial situation. She recently successfully staved off a case of bronchial flu and is adjusting to her new, curlier hair. Her last CA125 blood test was excellent. A reading of 35 is indicative of no significant cancer and Cindys was 10. Lots of fingers are crossed that this continues.

As effusive as Cindys praise is for her doctors, the strides in treatment options and the loving support of family and friends, she credits her faith for being her mainstay through her ordeal. From the minute I got the diagnosis until this very day Ive handed my burden over to God. I trusted his hands and not my own strength. Ive never asked Why me? and am struck time after time with how blessed Ive been and how much more other people suffer. She continued, My whole perspective on life has changed. Little things like slow traffic or other minor inconveniences just dont upset me anymore. Not after this.

Cindys attitude, fortitude and spirit are an inspiration to others facing similar struggles. Since cancer has invaded her body she appreciates the unique burden she shares with other cancer victims. Its a constant battle, one that feels endless. Each checkup resurrects the fear that only an "all clear" result can allay. One of her doctors describes the ongoing follow-up as an umbilical cord keeping hope and reassurance alive. Cindy couldnt agree more.

Cancer touches an enormous number of individuals. Research and support for its victims need to continue until a cure is finally found. The Waynesboro Area Gala Cancer Auction has been highly successful in raising funds to sustain this cause for the past 38 years. Reluctantly, the auction committee has determined that the best course of action, given the ongoing circumstances and uncertainty associated with the coronavirus epidemic, is to cancel this years 39th auction that had been rescheduled for July 25. Please visit their website http://www.wagca.org for further details or to make a contribution to the cause. All monetary donations will still be distributed to area organizations this year.

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Smith shares story of her battle with cancer - Waynesboro Record Herald

Global Predictive Genetic Testing Market 2020: In-depth Study, Production Demand, Growth Strategies, Opportunities and Development Overview till 2025…

Adroit Market Research presents an updated and Latest Study on Predictive Genetic Testing Market 2020-2025. The report contains market predictions related to market size, revenue, production, CAGR, Consumption, gross margin, price, and other substantial factors. While emphasizing the key driving and restraining forces for this market, the report also offers a complete study of the future trends and developments of the market. The report further elaborates on the micro and macroeconomic aspects including the socio-political landscape that is anticipated to shape the demand of the Predictive Genetic Testing market during the forecast period (2020-2025).

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The report on the global Predictive Genetic Testing market also includes an in-depth analysis of the competitive landscape. It analyses key marketing and promotional strategies that are being adopted by key companies in the market. It also takes into account the existing development, historical events, and latest trends to provide the readers with a detailed understanding of the strategies adopted by leading companies. The market report mentions all factors and events impacting the growth of the market, such as mergers, acquisitions, joint ventures, strategic alliances, takeovers, and others. It also studies the overall intensity of the competition prevailing in the global Predictive Genetic Testing market.

Top Leading Key Players are:

Agilent, Technologies, Inc., BGI Genomics, F.Hoffman-La Roche Ltd., Genes In Life., Invitae Corporation, Illumina, Inc., 23andMe, Myriad Genetics, Inc., Pathway Genomics and Thermo Fisher Scientific, Inc.

Read complete report with TOC at: https://www.adroitmarketresearch.com/industry-reports/predictive-genetic-testing-market

Predictive Genetic Testing industry report also presents detailed insights into the regulatory framework of the global market. The Predictive Genetic Testing market report presents details regarding the key rules, regulations, plans, and policies in the market, which can influence several decisions and can have a significant impact on markets future growth prospects. It provides overview with growth analysis and historical & futuristic cost, revenue and demand. The research analysts provide an elaborate description of the value chain and its distributor analysis. The study meticulously unveils the market and contains substantial details about the projections with respect to industry, remuneration forecast, sales graph, and growth prospects over the forecast timeline.

Global Predictive Genetic Testing market is geographically segmented into Asia Pacific, the Middle East and Africa, Europe, Latin America, and North America. Amongst these, North America is anticipated to procure maximum share in the global Predictive Genetic Testing market revenue during the forecast period. This is because of the increasing adoption of Predictive Genetic Testing in several countries in the region. Asia Pacific, on the other hand, is likely to witness the highest market growth in the coming years. Persistent investments by public and private vendors for enhancing technologies of the market are expected to cause this growth.

Global Predictive Genetic Testing Market research report, besides ample understanding shared in the previous sections, the report also presents this comprehensive research report gauges for decisive conclusions concerning growth factors and determinants, eventually influencing holistic growth and lucrative business models in Global Predictive Genetic Testing Market. The report on this target market is a judicious compilation of in-depth and professional marketing cues that are crucially vital in delegating profit driven business decisions. Apart from these elaborate market specific information suggesting current market scenario, this market intelligence report also includes veritable insights on growth stimulating factors as well as cut throat competition amongst market players, based on which report readers can orchestrate growth specific decisions to harbor incremental growth in the target Global Predictive Genetic Testing Market.

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Genomics Market 2020: Global Industry Analysis By Size, Share, Growth, Trends And Forecast To 2026 – Cole of Duty

Trusted Business Insights answers what are the scenarios for growth and recovery and whether there will be any lasting structural impact from the unfolding crisis for the Genomics market.

Trusted Business Insights presents an updated and Latest Study on Genomics Market 2019-2026. The report contains market predictions related to market size, revenue, production, CAGR, Consumption, gross margin, price, and other substantial factors. While emphasizing the key driving and restraining forces for this market, the report also offers a complete study of the future trends and developments of the market.The report further elaborates on the micro and macroeconomic aspects including the socio-political landscape that is anticipated to shape the demand of the Genomics market during the forecast period (2019-2029).It also examines the role of the leading market players involved in the industry including their corporate overview, financial summary, and SWOT analysis.

Get Sample Copy of this Report @ Genomics Market Size, Share, Growth, Market Research and Industry Forecast Report, 2027 (Includes Business Impact of COVID-19)

Industry Insights, Market Size, CAGR, High-Level Analysis: Genomics Market

The global genomics market size was estimated at USD 17.2 billion in 2019 and is anticipated to expand at a CAGR of 7.7% over the forecast period. Noninvasive cancer screening-based research is one of the major factors playing a pivotal role in reshaping the genomics industry. Researchers from diverse areas of expertise are engaged in the development and establishment of clinical uses for gene-based liquid biopsy tests.Liquid biopsy solutions identify cancer-causing DNA mutations thus enabling early detection of cancer. Several companies have begun leveraging on genomics for the development of DNA liquid biopsy tests in order to detect cancer at early stage. Increasing applications of genomics in medicine has gained attention from military organizations, resulting in a significant increase in adoption of genetic testing in their healthcare systems. Military practitioners are implementing Carrier Screening for Genetic Conditions guidelines, which recommends Spinal Muscular Atrophy (SMA) screening in pregnant women.

Implementation of human genomics studies across public health programs such as population screening and consumer wellness programs are expected to create lucrative opportunities for the market. These programs are primarily targeted at optimizing preventive care for common chronic diseases such as cancer and heart disease.Traditional genome editing technologies are time-consuming, inefficient, and labor-intensive and have a limited capacity of maintaining pace with the fast-progressing genome modification era. However, advent of CRISPR/Cas9 nuclease, ZFN, and TALEN is set to address these challenges by facilitating easy and precise genome editing.Clinical healthcare is being considered as a gateway for introducing new sequencing technologies for U.S. residents. This trend is propelled by healthcare giants focusing on providing medical genomics across clinical patient care delivery. Also, newly developed gene editing technologies can control and potentially cure specific diseases via detection of underlying mutations in an individual. Thus, innovations in the medical genomics industry are expected to offer profitable opportunities for the market in the near future.Application andTechnology Insights of Genomics Market

Functional genomics is expected to be the largest revenue generating segment by 2027 owing to the generation of large amount of sequencing data. Introduction of high-throughput technologies employed in gene and protein studies has contributed to the segment growth. Advancements in the genomics industry range from studying individual genes to complete genomes and proteomes within a comparatively shorter time durations, which is another factor driving the segment growth.Investigating communication and response in individual targets within the molecular networks has offered useful insights regarding biological functions at a cellular level. Pathway analysis has emerged as a pivotal aspect to strengthen life sciences research along with a fundamental understanding of molecular and cellular biology targeted toward drug development. Thus, the pathway analysis approach is set to gain significant traction post the emergence of personalized therapies and genomics.Integration of genomics in the field of personalized therapy enables an in-depth analysis of navigating signaling pathways and disease networks. This further aids in addressing challenges associated with the development of therapeutics and genetic assays. Various biological resource types including gene ontology, gene annotation databases, and pathway databases can be effectively employed for pathway-based analysis.Deliverable InsightsThere is an increase in the number of demonstrations pertaining to miniaturized instruments targeted toward genomics applications in recent years. These instruments are designed to offer enhanced specificity, sensitivity, and automated features as compared to conventional instruments.However, the development of microfabrication technology and integrated microfluidic genomics systems is now aimed at the development of point-of-care devices. Increasing use of impedimetric detection is one of the promising techniques for the instruments in the market. Moreover, companies such as Formulatrix, Inc. are introducing innovative instruments that help researchers prepare and process samples before subjecting them to analysis.Increasing adoption of cloud-based solutions for robust and effective management of parallelization along with distribution of input data and user code on a large number of computer nodes is expected to propel the software solutions sector. This is anticipated to further contribute to the segment growth.Cloud computing offers a very prominent advantage of performing tasks in different parallel computing nodes along with the processors, which results in a significant reduction in waiting time. Integration of cloud computing solutions in processing NGS related data is expected to have a significant impact on the genomics market growth.End-use InsightsA steep decline in sequencing costs coupled with technological enhancements in informatics, genetic solutions are now widely used across various sectors ranging from small labs to clinical settings. Key end-use segments consist of pharmaceutical and biotechnology companies, hospitals and clinics, academic and government institutes, clinical and research laboratories, and other end users.Among these, the pharmaceutical and biotechnology companies segment is expected to dominate the global market throughout the forecast period owing to increasing number of genetic research studies. These are chiefly aimed at the development of efficacious drugs with fewer side effects and improving drug discovery process. This is also attributed to expanding penetration of genomics across diseases associated with immune system, central nervous system, and cardiovascular system.

Moreover, biotechnology companies are effectively employing gene-editing tools to address challenges pertaining to personalized treatment of patients through development of genetically engineered and recombinant products. Other end users include agriculture research institutes, direct-to-consumers (DTC), and forensic centers. The others segment is anticipated to witness profitable growth owing to significant demand for DTC among consumers, government, and genomics companies.

Regional Insights of Genomics Market

North America is anticipated to emerge as the dominant region in the market owing to rising patient awareness, substantial investments in research by government organizations, and advanced healthcare infrastructure. Changing regulations for usage and reimbursement are expected to fuel the adoption of genetic tests in this region.Presence of key players such as Bio-Rad Laboratories, Inc.; Cepheid, Inc.; Agilent Technologies; and Danaher Corporation have also contributed to the revenue generated by this region. Whereas, companies such as Illumina, Genomic Health, and Bluebird Bio that are operating at the forefront for revolutionizing the genomics industry, are also headquartered in U.S. These companies serve as pioneers in the fields of genetic sequencing, genetic diagnostics, and gene therapy respectively.Asia Pacific is expected to witness the fastest growth in the coming years owing to increasing adoption and awareness for latest genomics technologies in the emerging countries of this region. These technologies are targeted toward detection, treatment, and prognosis of genetic disorders. China is playing a pivotal role in the regional market growth by initiatives such as introduction of the Precision Medicine Initiative (PMI) for the use of genomics in healthcare in 2017.

Market Share Insights of Genomics Market

Major players include F. Hoffmann-La Roche Ltd..; Agilent Technologies, Thermo Fisher Scientific, Inc.; Bio-Rad Laboratories, Inc.; 23andMe, Inc.; Illumina, Inc.; Myriad Genetics, Inc.; Foundation Medicine, Inc.; Danaher; Pacific Biosciences; Oxford Nanopore Technologies; and BGI.In June 2019, BGI partnered with Eluthia, a Germany-based biotechnology company, for the development and commercialization of reproductive genetic tests across Germany. Such alliances are set to intensify the market competition in the near future.

Segmentations, Sub Segmentations, CAGR, & High-Level Analysis overview of Genomics Market Research ReportThis report forecasts revenue growth at global, regional, and country levels and provides an analysis on the latest industry trends and opportunities in each of the sub-segments from 2019 to 2030. For the purpose of this report, this market research report has segmented the global genomics market report on the basis of application and technology, deliverables, end use, and region:

Deliverable Outlook (Revenue, USD Million, 2019 2030)

Products

Instruments & Software

Consumables & Reagents

Services

Core Genomics Services

NGS-based Services

Biomarker Translation Services

Computational Services

Others

Application & Technology Outlook (Revenue, USD Million, 2019 2030)

Functional Genomics

Transfection

Real-time PCR

RNA interference

Mutational analysis

SNP analysis

Microarray analysis

Epigenetics

Bisulfite sequencing

Chromatin immunoprecipitation-sequencing (ChIP & ChIP-Seq)

Methylated DNA immunoprecipitation (MeDIP)

High resolution melt (HRM)

Chromatin accessibility assays

Microarray analysis

Pathway Analysis

Bead-based analysis

Microarray analysis

Real-time PCR

Proteomics tools (2-D PAGE; yeast 2-hybrid studies)

Biomarker Discovery

Mass spectrometry

Real-time PCR

Microarray analysis

Statistical analysis

Bioinformatics

DNA sequencing

Others

End-use Outlook (Revenue, USD Million, 2019 2030)

Clinical & Research Laboratories

Academic & Government Institutes

Hospitals & Clinics

Pharmaceutical & Biotechnology Companies

Other End Users

Quick Read Table of Contents of this Report @ Genomics Market Size, Share, Growth, Market Research and Industry Forecast Report, 2027 (Includes Business Impact of COVID-19)

Trusted Business InsightsShelly ArnoldMedia & Marketing ExecutiveEmail Me For Any ClarificationsConnect on LinkedInClick to follow Trusted Business Insights LinkedIn for Market Data and Updates.US: +1 646 568 9797UK: +44 330 808 0580

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Genomics Market 2020: Global Industry Analysis By Size, Share, Growth, Trends And Forecast To 2026 - Cole of Duty

Eighth Annual Cancer Immunotherapy Month in June Celebrates Progress in Treatment and Advances in Research – Newswise

Newswise NEW YORK, June 1, 2020 The Cancer Research Institute (CRI), a nonprofit organization dedicated since 1953 to saving more lives by fueling the discovery and development of powerful immunotherapies for all types of cancer, announced today a series of public education and awareness offerings during its eighth annual Cancer Immunotherapy Month in June. The multimedia campaign aims to reach more than 5 million people globally to increase awareness of cancer immunotherapy (also known as immuno-oncology), clinical trials, and the urgent need for more funding to support lifesaving immunotherapy research.

Decades of scientific research on the immune system and its response to cancer have yielded a foundation for new treatments that can significantly extend or save lives for subsets of people with cancer who receive immunotherapy alone or in combination with other types of treatment, said Jill ODonnell-Tormey, Ph.D., CEO and director of scientific affairs at CRI. More research is needed to extend the benefits of immunotherapy to all cancer patients, and our goal is to raise awareness of the critical role patients, caregivers, advocates, scientists, and donors who support their research play in advancing immuno-oncology breakthroughs.

Over the past ten years, the FDA has approved immunotherapies to treat more than 20 types of cancer as well as cancers with a specific genetic mutation. This includes approvals for front-line therapy, where immunotherapy is given as the first course of treatment instead of conventional chemotherapy or radiation. Immunotherapy has also been shown to work synergistically with these and other treatments, offering more options for patients.

Cancer Immunotherapy Month aims to bring exciting advances like these into focus and to provide the public, including cancer patients and their caregivers, with trusted information to help them make the most informed treatment decisions in consultation with their medical team.

Important highlights of Cancer Immunotherapy Month include:

Im the Answer to Cancer Immunotherapy Patient StoriesEach week in June, CRI will featurevideo stories of patientssharing their cancer immunotherapy journeys, from diagnosis to treatment to living beyond treatment. Featured cancer types include esophageal, kidney, lung, and oral cancer.

Wear White for a Future Immune to CancerOn Friday, June 12,CRI invites the world to Wear White for a Future #Immune2Cancer to help raise awarenessabout the lifesaving potential of immunotherapy through the community-building power of social media. Getting involved is simple: wear white, snap and share a selfie on Twitter or Instagram, and use the hashtag #Immune2Cancer.

Live Stream Event: COVID-19 and Cancer Immunotherapy ResearchOn Thursday, June 18, at 3pm EDT, CRI immunotherapy experts Drs. Carl June, Miriam Merad, and E. John Wherry will join STAT news senior medical writer, Matthew Herper, for a livestream broadcast discussing how cancer immunotherapy research is aiding global efforts to treat COVID-19 patients and prevent future outbreaks. The discussion will be followed with a live Q&A session. Register at cancerresearch.org/covid-19-livestream.

Live Webinar Cancer Immunotherapy and You: Understanding Genomics and Genetic TestingOn Wednesday, June 24, at 12pm EDT, CRI will host a free, live webinar featuring Drs. Corrie Painter and Eliezer Van Allen of the Broad Institute of MIT and Harvard, who will discuss how genetic testing is helping inform cancer treatment decisions and how scientists are working to tap the full potential of genome-based medicine, followed by their answers to questions submitted by viewers. Register atcancerresearch.org/webinars.

Other Awareness, Educational, and Fundraising ActivitiesThroughout June, CRI will also provide daily immunotherapy highlights from the ASCO and AACR virtual meetings, share a series of 30 Outlooks from CRI scientists, patient community members, and donors about their vision for the future of cancer treatment, and offer an interactive cancer immunotherapy quiz. Cancer Immunotherapy Month activity will be shared across social media with the hashtag #CIM20. Finally, through June 30, all donations to CRI up to the first $300,000 will be matched dollar-for-dollar, helping to fuel more discovery to save more lives.

The Cancer Research Institute would like to thank the following generous sponsors of the eighth annual Cancer Immunotherapy Month:

# # #

About the Cancer Research Institute The Cancer Research Institute (CRI), established in 1953, is the worlds leading nonprofit organization dedicated exclusively to saving more lives by fueling the discovery and development of powerful immunotherapies for all types of cancer. Guided by a world-renowned Scientific Advisory Council that includes four Nobel laureates and 26 members of the National Academy of Sciences, CRI has invested $420 million in support of research conducted by immunologists and tumor immunologists at the worlds leading medical centers and universities, and has contributed to many of the key scientific advances that demonstrate the potential for immunotherapy to change the face of cancer treatment. To learn more, go tocancerresearch.orgor to see the full roster of Cancer Immunotherapy Month programs, go tocancerresearch.org/june.

Cancer Immunotherapy Month hashtag: #CIM20Wear White Day hashtag: #Immune2Cancer

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Eighth Annual Cancer Immunotherapy Month in June Celebrates Progress in Treatment and Advances in Research - Newswise

NGS-based RNA-seq Market By Business Function (Marketing and Sales, Legal, Finance, and Workforce Management), Component (Software and Services),…

The global NGS-based RNA-seq Market was valued at USD 0.89 billion in 2016 and is projected to reach USD 4.65billion by 2025, growing at a CAGR of 20.17% from 2017 to 2025.

Next-generation sequencing (NGS), also known as high-throughput sequencing, is the term used to describe a number of different modern sequencing technologies. The increasing focus on Genetic studies and gene based therapeutic technologies is expected to boost the growth of the market in coming years.

The Final Report will cover the impact analysis of COVID-19 on this industry:

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Sample Infographics:

Market Dynamics:1. Market Drivers1.1 Advantages of RNA-seq Over Microarray Technology1.2 Technological Advancements in RNA-seq Products1.3 Increasing Number of RNA-seq Grants1.4 Increasing Number of Research Activities Involving RNA-seq1.5 Rapid Growth in Precision Medicine

View Source Of Related Reports:

NGS-based RNA-seq MarketMicrobiome Sequencing Services MarketMycoplasma Testing MarketSingle-cell Analysis MarketDigital PCR and Real-time PCR (qPCR) MarketAnalytical Standards MarketProtein Expression MarketCell Based Assays MarketPreimplantation Genetic Testing Market-Cellular Health Screening/Health Testing Market

2. Market Restraints2.1 Lack of Skilled Professionals2.2 Standardization Concerns of RNA-seq in Diagnostic Testing

Market Segmentation:1. Global NGS-based RNA-seqMarket, by End User:1.1 Research Centers and Academic & Government Institutes1.2 Hospitals & Clinics1.3 Pharmaceutical & Biotechnology Companies1.4 Other End Users

2.Global NGS-based RNA-seqMarket, by Application:2.1 Expression Profiling Analysis2.2 Small RNA Sequencing2.3 De Novo Transcriptome Assembly2.4 Variant Calling and Transcriptome Epigenetics

3. Global NGS-based RNA-seqMarket, by Technology:3.1 Sequencing By Synthesis3.2 Ion Semiconductor Sequencing3.3 Single-Molecule Real-Time Sequencing3.4 Nanopore Sequencing

4. Global NGS-based RNA-seq Market, by Product and Services:4.1 Sample Preparation4.1.1 Sample Preparation, By Workflow Step4.1.1.1 Fragmentation, End Repair, and Size Selection4.1.1.2 Library Preparation and Target Enrichment4.1.1.3 Quality Control4.1.2 Sample Preparation, By Method4.1.2.1 Manual Sample Preparation4.1.2.2 Microfluidic Sample Preparation4.1.2.3 Robotic Liquid Handling Sample4.1.3 Sequencing Platforms and Consumables4.1.4 Sequencing Services4.1.5 Data Analysis, Storage, and Management

5. Global NGS-based RNA-seq Market, by Region:5.1 North America (U.S., Canada, Mexico)5.2 Europe (Germany, UK, France, Rest of Europe)5.3 Asia Pacific (China, India, Japan, Rest of Asia Pacific)5.4 Latin America (Brazil, Argentina, Rest of Latin America)5.5 Middle East & Africa

Competitive Landscape:The major players in the market are as follows:1. Illumina, Inc.2. Thermo Fisher Scientific Inc.3. Pacific Biosciences of California, Inc.4. Qaigen N.V.5. F. Hoffmann-La Roche AG6. Agilent Technologies, Inc.7. BGI (Beijing Genomics Institute)8. Oxford Nanopore Technologies, Ltd9. Perkinelmer, Inc.10. Eurofins Scientific11. Gatc Biotech AG12. Macrogen, Inc.These major players have adopted various organic as well as inorganic growth strategies such as mergers & acquisitions, new product launches, expansions, agreements, joint ventures, partnerships, and others to strengthen their position in this market.

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RESEARCH METHODOLOGY OF VERIFIED MARKET INTELLIGENCE:Research study on the NGS-based RNA-seqMarketwas performed in five phases which include Secondary research, Primary research, subject matter expert advice, quality check and final review.The market data was analyzed and forecasted using market statistical and coherent models. Also market shares and key trends were taken into consideration while making the report. Apart from this, other data models include Vendor Positioning Grid, Market Time Line Analysis, Market Overview and Guide, Company Positioning Grid, Company Market Share Analysis, Standards of Measurement, Top to Bottom Analysis and Vendor Share Analysis.

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NGS-based RNA-seq Market By Business Function (Marketing and Sales, Legal, Finance, and Workforce Management), Component (Software and Services),...

Should I get a prenatal genetic screening test and what can I expect? – Monitor

By: Cristela Hernandez, MD Maternal-Fetal Medicine

Pregnant women commonly ask their doctor, Will my baby be healthy? While the vast majority of babies are born healthy, all pregnancies are at risk for birth defects and genetic diseases. Two to three percent of babies are born with birth defects and 1 in 150 live births involve a chromosomal abnormality. Prenatal care involves screening for chromosomal abnormalities, genetic syndromes, and birth defects. Genetic screening is offered to all women during the first or second trimester of pregnancy. Subsequently, the doctor will review the mothers results to determine, with as much accuracy as possible, whether a specific birth defect or genetic condition is present in her baby. Certain conditions can increase the mothers risk, such as maternal age over 35, or a family history of birth defects and genetic disease. Keep in mind, that although many advances have been made, it is not possible to predict all birth defects or genetic disorders.

Prenatal genetic testing initially focused on the detection of Down Syndrome because it is the most common chromosomal abnormality, but testing has expanded to a broad range of other genetic disorders. Chromosomal abnormalities include extra or missing chromosomes such as Down Syndrome, which arises from an extra chromosome number 21. In addition, chromosomes can have abnormalities such as missing or duplicated fragments, or rearrangements from one chromosome to another. Other genetic disorders are caused by mutations in single genes, such as cystic fibrosis. Lastly, mutations in the mitochondrial DNA can also cause genetic disorders. The field of genetic disorders is complex and genetic counseling is very helpful when these abnormalities are encountered.

Prenatal genetic testing generally begins with a mothers blood test and a fetal ultrasound exam. It is considered a screening test and does not entail any risk to the pregnancy, but is not considered a final diagnosis. Diagnostic invasive testing includes chorionic villus sampling and amniocentesis, and these can provide a definitive diagnosis. Chorionic villous sampling may be performed in the first trimester and an amniocentesis in the second trimester. These procedures can rarely lead to a miscarriage, so benefits and risks should be carefully considered.

Birth defects can be identified with fetal ultrasound exams and newer technology now includes 3- dimensional imaging. If a birth defect is suspected, a detailed fetal ultrasound is recommended. A referral to a Maternal-Fetal Medicine specialist can be helpful to address the multiple issues involved.

All of this information, in response to a concerned mothers simple question, Will my baby be healthy? may seem overwhelming. It is important for every mother to discuss with her doctor the options in prenatal screening and her individual risk of having a genetic disease or birth defect. Prenatal genetic testing provides many benefits, including: reassuring parents when results are normal, identifying conditions which can be treated with fetal therapy before birth, and optimizing care for affected newborns. Such testing may prove very useful for the mother and doctors caring for her baby.

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Should I get a prenatal genetic screening test and what can I expect? - Monitor

Genetic Mutations Linked to Higher Breast Cancer Risk Are the Same for Black, White Women – Breastcancer.org

The genetic mutations that can increase breast cancer risk, including mutations in the BRCA1, BRCA2, and PALB2 genes, are the same for both black and white women, which means that currently available genetic tests are effective for black women, according to a study.

The research was published online on May 19, 2020, by the Journal of the National Cancer Institute. Read the abstract of Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women.

A germline variant is a change, or mutation, in a gene that is inherited from your parents and is in all your DNA.

Three of the most well-known genes that can mutate and raise the risk of breast and/or ovarian cancer are BRCA1, BRCA2, and PALB2. Women who inherit a harmful mutation, or abnormal change, in any of these genes from their mothers or their fathers have a much higher-than-average risk of developing breast cancer and/or ovarian cancer. Men with these mutations have an increased risk of breast cancer, especially if the BRCA2 gene is affected, and possibly of prostate cancer. Many inherited cases of breast cancer have been associated with mutations in these three genes.

The function of the BRCA and PALB2 genes is to keep breast cells growing normally and prevent any cancer cell growth. But when these genes contain mutations that are passed from generation to generation, they do not function normally and breast cancer risk increases. Abnormal BRCA1, BRCA2, and PALB2 genes may account for up to 10% of all breast cancers, or 1 out of every 10 cases.

Earlier studies looking at the genetic mutations linked to a higher risk of breast cancer included mainly white women, so it has been unclear if the same genetic mutations increased breast cancer risk by the same amount in black women.

Earlier research studies looking at genetic mutations linked to breast cancer in black women were very small, so the researchers could only conclude that mutations in the BRCA1 and BRCA2 genes were linked to a higher risk of breast cancer in black women.

So the researchers who did this study were concerned that current genetic tests might not be looking for the correct mutations linked to a higher risk of breast cancer in black women.

The study included 5,054 black women who had been diagnosed with breast cancer and 4,993 black women of the same ages who had not been diagnosed with breast cancer.

All the women had genetic testing that looked for mutations in 23 genes known to be linked to a higher risk of cancer.

Harmful mutations were found in:

Mutations in the BRCA1, BRCA2, and PALB2 genes were linked to a high risk of breast cancer.

Mutations in the RAD51D gene were linked to a high risk of estrogen-receptor-negative breast cancer.

Mutations in the CHEK2, ATM, ERCC3, and FANCC genes were linked to a moderate risk of estrogen-receptor-positive breast cancer.

Mutations in the RECQL gene were linked to a moderate risk of all types of breast cancer.

"This means that the [genetic tests] that are currently available to test women diagnosed with breast cancer or women at high risk due to their family history will be useful for African American women," said lead author Julie Palmer, Karin Grunebaum Professor in Cancer Research at the Boston University School of Medicine.

If you are a black woman who has been diagnosed with breast cancer or who hasnt been diagnosed but you have a strong family history of the disease, this study offers reassurance that current genetic tests will accurately find any mutations linked to a higher risk of breast cancer.

Statistics show that rates of genetic testing are much lower in black women diagnosed with breast cancer than in white women diagnosed with breast cancer.

In February 2019, the American Society of Breast Surgeons issued updated guidelines saying that genetic testing should be made available to everyone who has been diagnosed with breast cancer.

There are a number of reasons why someone diagnosed with breast cancer or who is at high risk because of family history might want to consider genetic testing:

If youve been diagnosed with breast cancer or are at high risk because of family history, you may want to talk to your doctor or a licensed certified genetic counselor about your diagnosis and/or your family history and ask if having a genetic test makes sense for you. A licensed certified genetic counselor or your doctor can help you understand the test and accurately interpret the results.

For more information on genetic testing, including types of genetic tests and how results are reported, visit the Breastcancer.org Genetic Testing pages.

For more information on genes and genetic mutations linked to breast cancer, as well as all the risk-lowering steps you can take if you have a genetic mutation, visit the Breast Cancer Risk Factors: Genetics page in the Breastcancer.org Lower Your Risk section.

To discuss being at high risk for breast cancer with other people, join the Breastcancer.org Discussion Board forum High Risk for Breast Cancer. If you've tested positive for a mutation linked to breast cancer and would like to talk about this with others who have also tested positive, join the forum Positive Genetic Test Results.

Written by: Jamie DePolo, senior editor

Published on June 2, 2020 at 10:18 AM

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Genetic Mutations Linked to Higher Breast Cancer Risk Are the Same for Black, White Women - Breastcancer.org

The Global Preimplantation Genetic Testing Market is expected to grow from USD 418.13 Million in 2018 to USD 946.13 Million by the end of 2025 at a…

NEW YORK, June 5, 2020 /PRNewswire/ --The Global Preimplantation Genetic Testing Market is expected to grow from USD 418.13 Million in 2018 to USD 946.13 Million by the end of 2025 at a Compound Annual Growth Rate (CAGR) of 12.37%.

Read the full report: https://www.reportlinker.com/p05871267/?utm_source=PRN

The positioning of the Global Preimplantation Genetic Testing Market vendors in FPNV Positioning Matrix are determined by Business Strategy (Business Growth, Industry Coverage, Financial Viability, and Channel Support) and Product Satisfaction (Value for Money, Ease of Use, Product Features, and Customer Support) and placed into four quadrants (F: Forefront, P: Pathfinders, N: Niche, and V: Vital).

The report deeply explores the recent significant developments by the leading vendors and innovation profiles in the Global Preimplantation Genetic Testing Market including are ABBott Laboratories, Agilent Technologies, Inc., Oxford Gene Technology, Perkinelmer, Inc., Thermo Fisher Scientific Inc., Beijing Genomics Institute, Combimatrix Corporation, Emerson Electric Co., Invicta Genetics, and Progenesis.

On the basis of Technology, the Global Preimplantation Genetic Testing Market is studied across Comparative Genomic Hybridization, Fluorescence in Situ Hybridization, Next-Generation Sequencing, Polymerase Chain Reaction, and Single-Nucleotide Polymorphism.

On the basis of Offering, the Global Preimplantation Genetic Testing Market is studied across Instruments Services, Reagents and Consumables, and Software and Services.

On the basis of Procedure Type, the Global Preimplantation Genetic Testing Market is studied across Preimplantation Genetic Diagnosis Off-Line Procedure Type and Preimplantation Genetic Screening.

On the basis of Application , the Global Preimplantation Genetic Testing Market is studied across Aneuploidy, Gender Identification, HLA Typing, Single Gene Disorders, Structural Chromosomal Abnormalities, and X-Linked Disorders.

On the basis of End User , the Global Preimplantation Genetic Testing Market is studied across Contract Research and Manufacturing Organizations, Hospitals, Diagnostic Labs, and Service Providers, and Research Laboratories & Academic Institutes.

For the detailed coverage of the study, the market has been geographically divided into the Americas, Asia-Pacific, and Europe, Middle East & Africa. The report provides details of qualitative and quantitative insights about the major countries in the region and taps the major regional developments in detail.

In the report, we have covered two proprietary models, the FPNV Positioning Matrix and Competitive Strategic Window. The FPNV Positioning Matrix analyses the competitive market place for the players in terms of product satisfaction and business strategy they adopt to sustain in the market. The Competitive Strategic Window analyses the competitive landscape in terms of markets, applications, and geographies. The Competitive Strategic Window helps the vendor define an alignment or fit between their capabilities and opportunities for future growth prospects. During a forecast period, it defines the optimal or favorable fit for the vendors to adopt successive merger and acquisitions strategies, geography expansion, research & development, new product introduction strategies to execute further business expansion and growth.

Research Methodology:Our market forecasting is based on a market model derived from market connectivity, dynamics, and identified influential factors around which assumptions about the market are made. These assumptions are enlightened by fact-bases, put by primary and secondary research instruments, regressive analysis and an extensive connect with industry people. Market forecasting derived from in-depth understanding attained from future market spending patterns provides quantified insight to support your decision-making process. The interview is recorded, and the information gathered in put on the drawing board with the information collected through secondary research.

The report provides insights on the following pointers:1. Market Penetration: Provides comprehensive information on sulfuric acid offered by the key players in the Global Preimplantation Genetic Testing Market2. Product Development & Innovation: Provides intelligent insights on future technologies, R&D activities, and new product developments in the Global Preimplantation Genetic Testing Market3. Market Development: Provides in-depth information about lucrative emerging markets and analyzes the markets for the Global Preimplantation Genetic Testing Market4. Market Diversification: Provides detailed information about new products launches, untapped geographies, recent developments, and investments in the Global Preimplantation Genetic Testing Market5. Competitive Assessment & Intelligence: Provides an exhaustive assessment of market shares, strategies, products, and manufacturing capabilities of the leading players in the Global Preimplantation Genetic Testing Market

The report answers questions such as:1. What is the market size of Preimplantation Genetic Testing market in the Global?2. What are the factors that affect the growth in the Global Preimplantation Genetic Testing Market over the forecast period?3. What is the competitive position in the Global Preimplantation Genetic Testing Market?4. Which are the best product areas to be invested in over the forecast period in the Global Preimplantation Genetic Testing Market?5. What are the opportunities in the Global Preimplantation Genetic Testing Market?6. What are the modes of entering the Global Preimplantation Genetic Testing Market?

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The Global Preimplantation Genetic Testing Market is expected to grow from USD 418.13 Million in 2018 to USD 946.13 Million by the end of 2025 at a...

Impact of Corona on Direct-Access Genetic Testing Market : What is the expected revenue for 2026? – Cole of Duty

The report attempts to offer high-quality and accurate analysis of the global Direct-Access Genetic Testing Market, keeping in view market forecasts, competitive intelligence, and technological risks and advancements, and other important subjects. Its carefully crafted market intelligence allows market participants to understand the most significant developments in the global Direct-Access Genetic Testing market that are impacting their business. Readers can become aware of crucial opportunities available in the global Direct-Access Genetic Testing market as well as key factors driving and arresting market growth. The research study also provides deep geographical analysis of the global Direct-Access Genetic Testing market and sheds light on important applications and products that market players can focus on for achieving strong growth.

Major players profiled in the report:

23andMeMyHeritageLabCorpMyriad GeneticsAncestry.comQuest DiagnosticsGene By GeneDNA Diagnostics CenterInvitaeIntelliGeneticsAmbry GeneticsLiving DNAEasyDNAPathway GenomicsCentrillion TechnologyXcodeColor GenomicsAnglia DNA ServicesAfrican AncestryCanadian DNA ServicesDNA Family CheckAlpha BiolaboratoriesTest Me DNA23 MofangGenetic HealthDNA Services of AmericaShuwen Health SciencesMapmygenomeFull Genomes

To know How COVID-19 Pandemic Will Impact This Direct-Access Genetic Testing Market/Industry -Request sample copy of this report:https://www.reporthive.com/request_sample/2334146

You can thoroughly assess the strengths and weaknesses of your competitors using our competitive analysis. In the report, you also have access to comprehensive production and shipment analysis from point of origin to end user purchase. Furthermore, you are informed about latest industry developments to help you stay ahead of your competitors. Our analysts are always on their toes to continuously track and analyze any changes or developments in the Direct-Access Genetic Testing industry. The report is filled with statistical presentations, market figures related to revenue, volume, CAGR, and share, and global and regional market forecasts.

The report includes a detailed segmentation study of the global Direct-Access Genetic Testing market, where all of the segments are analyzed in terms of market growth, share, growth rate, and other vital factors. It also provides the attractiveness index of segments so that players can be informed about lucrative revenue pockets of the global Direct-Access Genetic Testing market. The extensive evaluation of segments provided in the report will help you to direct your investments, strategies, and teams to focus on the right areas of the global Direct-Access Genetic Testing market.

Segmentation by Type:

Help-Seeking ADReminder ADProduct Claim AD

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Market Overview:Readers are informed about the scope of the global Direct-Access Genetic Testing market and different products offered therein. The section also gives a glimpse of all of the segments studied in the report with their consumption and production growth rate comparisons. In addition, it provides statistics related to market size, revenue, and production.

Production Market Share by Region:Apart from the production share of regional markets analyzed in the report, readers are informed about their gross margin, price, revenue, and production growth rate here.

Company Profiles and Key Figures: In this section, the authors of the report include the company profiling of leading players operating in the global Direct-Access Genetic Testing market. There are various factors considered for assessing the players studied in the report: markets served, production sites, price, gross margin, revenue, production, product application, product specification, and product introduction.

Manufacturing Cost Analysis:Here, readers are provided with detailed manufacturing process analysis, industrial chain analysis, manufacturing cost structure analysis, and raw materials analysis. Under raw materials analysis, the report includes details about key suppliers of raw materials, price trend of raw materials, and important raw materials.

Market Dynamics:The analysts explore critical influence factors, market drivers, challenges, risk factors, opportunities, and market trends in this section.

We follow industry-best practices and primary and secondary research methodologies to prepare our market research publications. Our analysts take references from company websites, government documents, press releases, and financial reports and conduct face-to-face or telephonic interviews with industry experts for collecting information and data. There is one complete section of the report dedicated for authors list, data sources, methodology/research approach, and publishers disclaimer. Then there is another section that includes research findings and conclusion.

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Impact of Corona on Direct-Access Genetic Testing Market : What is the expected revenue for 2026? - Cole of Duty

Illinois Man Kyle D. McLean Admits Role in $4.6 Million Health Care Fraud Related to Genetic Testing – STL.News

(STL.News) An Illinois man today admitted his role in a scheme to defraud the Medicare Program in connection with fraudulent orders for genetic tests, U.S. Attorney Craig Carpenito announced.

Kyle D. McLean, 36, of Arlington Heights, Illinois, pleaded guilty by videoconference before U.S. District Judge Brian R. Martinotti to a superseding information charging him with one count of conspiracy to defraud the United States in connection with a scheme to commit health care fraud. McLean and five co-defendants were previously charged by indictment in September 2019 in connection with the conspiracy and a related scheme.

According to documents filed in this case and statements made in court:

McLean and certain of his conspirators operated Privy Health Inc., a company that acquired DNA samples and Medicare information from hundreds of patients through various methods, including offering $75 gift cards to patients, all without the involvement of a treating health care professional. Privy partnered with another company, Ark Laboratory Network LLC, which purported to operate a network of laboratories that facilitated genetic testing. Matthew S. Ellis, a physician based in Gainesville, Florida, and a co-defendant charged in the indictment, served as the ordering physician who authorized genetic testing for hundreds of patients across the country that he never saw, examined, or treated. These included patients from New Jersey and various other states where Ellis was not licensed to practice medicine. Through this process, Ellis, McLean, and others submitted and caused to be submitted fraudulent orders for genetic tests to numerous clinical laboratories. These orders falsely certified that Ellis was the patients treating physician and, in some cases, falsely indicated that a patient had a personal or family history of cancer. In 2018 alone, Medicare paid clinical laboratories at least approximately $4.6 million for genetic tests that Ellis ordered as part of this scheme.

The charge to which McLean pleadedguilty carries a maximum penalty of five years in prison and a fine of $250,000, or twice the gross grain or loss from the offense. Sentencing is scheduled for Oct. 9, 2020.

A co-defendant, Kacey C. Plaisance, of Altamonte Springs, Florida, previously pleaded guilty and is scheduled to be sentenced on September 17, 2020.

U.S. Attorney Carpenito credited the U.S. Department of Health and Human Services, Office of Inspector General, under the direction of Special Agent in Charge Scott Lampert; and special agents of the U.S. Attorneys Office for the District of New Jersey with the investigation leading to todays guilty plea.

The government is represented by Senior Trial Counsel Bernard J. Cooney of the Health Care Fraud Unit of the U.S. Attorneys Office in Newark.

The charge and allegations against the remaining defendants are merely accusations, and they are presumed innocent unless and until proven guilty.

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Illinois Man Kyle D. McLean Admits Role in $4.6 Million Health Care Fraud Related to Genetic Testing - STL.News

Mining company blasts through 46000-year-old cultural site in Australia – The Architect’s Newspaper

Multinational iron ore mining company Rio Tinto is under fire for blasting through a 46,000-year-old Aboriginal cultural site in Western Australia last monthespecially since the company reportedly knew about the cave dwellings significance as far back as 2014.

On May 24, Rio Tinto, in trying to expand their Brockman 4 iron ore mine in the Pilbara region, destroyed two cave systems, Juukan 1 and 2, that showed evidence of continual human habitation dating back 46,000 years. The sites owners, the indigenous Puutu Kunti Kurrama and Pinikura (PKKP) peoples, reportedly only learned of the demolition on May 15; it was allowed to move ahead as an agreement had already been signed in 2013, one year before an archeological survey to the area was conducted.

What did that survey find? Archeologists reportedly recovered over 7,000 high-quality artifacts, including tools, grinding stones, and 4,000-year-old pleated hair braids that genetic testing linked to still-living Aboriginal peoples. Still, despite the discovery that the Juukan Gorge dwellings were more culturally, historically, and scientifically important than first thought, the demolition was still allowed to proceed under the Aboriginal Heritage Act. In 2013, Rio Tinto secured a permit based on the premise that the caves were of low historic value, and following the provisions set out by the act, were thus free from legal culpability for excavating, destroying, damaging, concealing or in any way altering any Aboriginal site.

Rio Tinto also remains in possession of the items recovered in 2014, and in 2016, even put out a documentary laying out PKKP concerns over the areas preservation, somewhat undermining the companys claim that this was unavoidable. The results of the final archeological report were never made public until summaries were recently provided to the press.

The chief executive of Rio Tinto iron ore, Chris Salisbury, apologized in an interview with Radio National this morning, calling it a misunderstanding, but as ABC News pointed out, the company knew the caves likely had archeological significance as far back as December of 2008.

For their part, the PKKP reportedly tried to stop the destruction but were told by Rio Tinto that the explosives had already been laid and that it was too late.

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Mining company blasts through 46000-year-old cultural site in Australia - The Architect's Newspaper

Studies of Brain Activity Aren’t as Useful as Scientists Thought – Duke Today

Hundreds of published studies over the last decade have claimed it's possible to predict an individuals patterns of thoughts and feelings by scanning their brain in an MRI machine as they perform some mental tasks.

But a new analysis by some of the researchers who have done the most work in this area finds that those measurements are highly suspect when it comes to drawing conclusions about any individual persons brain.

Watching the brain through a functional MRI machine (fMRI) is still great for finding the general brain structures involved in a given task across a group of people, said Ahmad Hariri, a professor of psychology and neuroscience at Duke University who led the reanalysis.

Scanning 50 people is going to accurately reveal what parts of the brain, on average, are more active during a mental task, like counting or remembering names, Hariri said

Functional MRI measures blood flow as a proxy for brain activity. It shows where blood is being sent in the brain, presumably because neurons in that area are more active during a mental task.

The problem is that the level of activity for any given person probably wont be the same twice, and a measure that changes every time it is collected cannot be applied to predict anyones future mental health or behavior.

Hariri and his colleagues reexamined 56 published papers based on fMRI data to gauge their reliability across 90 experiments. Hariri said the researchers recognized that the correlation between one scan and a second is not even fair, its poor.

They also examined data from the brain-scanning Human Connectome Project -- Our fields Bible at the moment, Hariri called it -- and looked at test/retest results for 45 individuals. For six out of seven measures of brain function, the correlation between tests taken about four months apart with the same person was weak. The seventh measure studied, language processing, was only a fair correlation, not good or excellent.

Finally they looked at data they collected through the Dunedin Multidisciplinary Health and Development Study in New Zealand, in which 20 individuals were put through task-based fMRI twice, two or three months apart. Again, they found poor correlation from one test to the next in an individual.

The bottom line is that task-based fMRI in its current form cant tell you what an individuals brain activation will look like from one test to the next, Hariri said. The new analysis, appears June 3 in Psychological Science

This is more relevant to my work than just about anyone elses! Hariri said, his voice rising. This is my fault. Im going to throw myself under the bus. This whole sub-branch of fMRI could go extinct if we cant address this critical limitation.

Hariri has been using fMRI data as part of a long-term study of 1,300 undergraduate Duke students. By combining brain scans, genetic testing and psychological assessments, Hariri is searching for biomarkers of individual differences in the way people process thoughts and emotions, such as why one person comes away from a traumatic event with PTSD or depression and another does not.

We cant continue with the same old hot spot research, Hariri said. We could scan the same 1,300 undergrads again and we wouldnt see the same patterns for each of them.

One possible solution to the reliability problem, using existing technology, would be to collect data for a full hour or longer in the scanner, not just five minutes. Hariri also said developing new tasks from the ground up with the explicit purpose of reliably measuring individual differences in brain activity is another strategy. In the meanwhile, Hariri and his team have shifted their focus to MRI measures of brain structure, which are highly reliable.

Its not as if we havent known these issues of reliability, but this paper brings them together more sharply, said Russell Poldrack, the Albert Ray Lang Professor of Psychology at Stanford University, who had a 15-year-old fMRI paper among those that were reanalyzed.

This is a good wakeup call, and its a marker of Ahmads integrity that hes taking this on, said Poldrack, who was not involved in the meta-analysis but said he has had suspicions about fMRI reliability for a few years now.

Connectivity mapping seeing how areas of the brain are connected to address a task more than just what areas are active is going to be the way forward, Poldrack predicted. Hariri agreed that identifying patterns of activity throughout the brain rather than in one or two areas may improve reliability.

In the meantime, the sociology behind a dramatic debunking of a scientific tool is going to be interesting to watch, Hariri and Poldrack both said.

Theres three things you can do, Poldrack said. You can just up and quit, you can stick your head in the sand (and act as if nothing has changed), or you can dig in and try to solve the problems.

This analysis was supported by the U.S. National Science Foundation. The Dunedin Study is supported by the U.S. National Institute on Aging (R01AG049789, R01AG032282) and the UK Medical Research Council (P005918), the New Zealand Health Research Council and the New Zealand Ministry of Business, Innovation and Employment (MBIE). The Human Connectome Project is supported by 16 centers of the U.S. National Institutes of Health via the Blueprint for Neuroscience Research.

CITATION: What is the Test-Retest Reliability of Common Task-fMRI Measure? New Empirical Evidence and a Meta-Analysis, Maxwell L. Elliott, Annchen R. Knodt, David Ireland, Meriwether L. Morris, Richie Poulton, Sandhya Ramrakha, Maria L. Sison, Terrie E. Moffitt, Avshalom Caspi, Ahmad R. Hariri. Psychological Science, June 3, 2020. DOI: 10.1177/0956797620916786

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Studies of Brain Activity Aren't as Useful as Scientists Thought - Duke Today

Genetic genealogy companies Ancestry, 23andMe begin COVID-19 research – Detroit Free Press

Ancestry and 23andMe offer direct-to-consumer DNA tests.(Photo: Reviewed.com/Jackson Ruckar)

It's a question that has vexed researchers from the beginning of the coronavirus outbreak: Why do some people get severely ill and die from COVID-19, while others have mild symptoms or none at all?

Now, scientists at two direct-to-consumer genealogy DNA companies hope to use the genomesthey've collected from millions of people over the years to see if they can find a genetic explanation toanswer that question.

Both 23andMe and Ancestry have launched COVID-19 studies, asking U.S. adult customers who've already submitted DNA samples to answer online questions about how the virus affected or didn't affect them.

"From the early days ... I think it was clear to all of us that some people were getting very, very sick when they were affected with coronavirus, and some people had hardly any symptoms at all," said Dr. Catherine Ball,chief scientific officer at Utah-based Ancestry."It turns out that there are plenty of people who have no symptoms. The spectrum of human response to the same pathogen is unusual.

"And even with a bunch of comorbidities and other problems, it's still remarkably divergent in different people, even if they have the same age and have the same overall health. And soto geneticists, that looks like there's a genetic factor in whether people become infected in the first placeor have serious or mild symptoms."

With 16 million people who've already spit in vials and sent them to Ancestryfor genetic testing to find blood relatives who might be closely or distantly related or learn how much of their DNA suggests their relatives came from Africa or Asia or were Native American or European, Ball said the companyknew it had a potentially useful data pool to tap for COVID-19 research.

"We clearly want to take the opportunity to unleash that power to be able to see if there are genetic signals, and be able to help researchers and people making drugs and therapeutics and vaccines dosmarter work faster," she said.

Dr. Catherine Ball, chief scientific officer for Utah-based Ancestry.(Photo: Ancestry)

Of those 16 million DNA customers through Ancestry, so far about 500,000people have already taken an online survey to participate in the company'scoronavirus research.

At 23andMe, principal scientist Adam Auton said the California-based company's COVID-19 genome-wide association study launched in April.

About 10 million of itsgenotype customers are eligible for the study, he said.Of them, about 80%have consented to participate in research, and600,000 customers have opted into the COVID-19 study.

"It is a really quite tremendous response to the study and I think shows that people really do want to try and contribute to help understand and fight this disease," said Auton.

Both Ancestry and 23andMeacknowledge that the bigger the sample size, the better their research will be.

"Never ask a scientisthow much data she needsbecause she always needs more," Ball said. "We're really hoping to get a minimum of a million respondentsbecause we need to have a decent number of people who have tested positive to give us a statistical signal."

So far, about9,000 people in 23andMe'sCOVID-19 study reported that theytested positive for coronavirus.

"That's a pretty substantial number," Auton said. "However, it's the nature of genetic studies that we really need very large numbers of people to be able to draw connections between the genetic information and people's health information."

A worker at 23andMe performs DNA testing on samples provided by customers.(Photo: 23andMe)

Since the pandemic began,about 1.6million people in the United States, a country of 330 million, have tested positive for COVID-19. As the virus continues to spread,and more people get coronavirus diagnoses, the companies suspect that the number of people who will go on to enroll in their studies also is likely to rise.

"We understand this is an evolving situation," Ball said. "And while we can't shelter in place forever, at some point, as we're opening up our cities and states, more people will start contracting the virus."

Anyone who may have already filled out anonline COVID-19 survey on Ancestry.com or 23andMe.com, saying they had not yet had the virus, can go back and revise their answers later to reflect that they've contracted it.

To expand its research of people who've had COVID-19 even more, Auton said 23andMeis now offering tomail a free DNA test kit to any U.S adult who was hospitalized with COVID-19, but has not yet submitted a DNA sample to the company.

"We are essentially asking if people have been hospitalized with COVID-19, and they have recovered, if they would like to participate inour research. They can come to our website and we'll offer them a free kit,"Auton said.

The contents of a 23andMe kit.(Photo: 23andMe)

"We're very much interested in trying to get the word out so that people to hear about this because really every data point is going to be pretty valuable."

23andMe has emailed customers in areas hardest hit so far in the pandemic including those in Michiganto let them know about its study, Auton said.

"The best thing that we can do to make a difference for COVID is to really publish the results that we find and make them available to the research and scientific communities," he said.

23andMe haspublishedmore than 150 studies in peer-reviewed scientific journals, "the majority of which come from collaboration with the broader academic and the scientific community," Auton said,since it launched in 2006with its direct-to-consumer DNA kit.

But the company ran afoul of the U.S. Food and Drug Administration in 2013, when the agency ordered 23andMeto halt the release of genetic health information to customers, saying the company had yet to prove its tests were"analytically or clinically validated."

After revamping, the company passed FDA muster in 2017, and got authorization tooffergenetic healthreports that outlinedrisk for 10conditions, including late-onset Alzheimers disease andParkinsons disease.

Ancestry is new to the health genetics business. It launched AncestryHealth in 2019, with the disclaimer that its tests are physician-ordered and not diagnostic, but offer "health insights" into whether a person might be a carrier for cystic fibrosis or sickle cell anemia or whether there's a genetic variant associated with a higher risk for breast cancer or colon cancer.

Ball said Ancestry also will seek to publish its COVID-19 research findings, too.

"We will be doing our very best to publish our findings as quickly as possible, and making them as useful to clinicians and other researchers as quickly as possible," she said.

Ancestry DNA(Photo: Melissa Rorech)

Both companies are looking for research partners for the coronavirus studies. Ancestry has had nibbles from universities, biotech and pharmaceutical companies, but Ball said, right now, the focus is on safeguarding the privacy of its customers.

"We typically do not share data out with third parties," Ball said. "That's an unusual activity for us.

"We will not be sharingpersonal data. Everything will be de-identified. So names, email addresses, your address, your ZIP code, your phone number, all that stuff will be stripped and will not be shared. We do want to still be very conservative because it is people's genetic data."

At 23andMe, individual-level data is never shared with a third party "without explicit additional consent from participants," Auton said.

"The information that we're talking about here, where we would be working with the academic community, is all aggregated at a very high level. So it's really just information about whether a specific genetic variant is associated with the disease. It doesn't contain any information about the individuals in the study."

Ball urged people to consider participating in this research for the common good.

"The people who came to AncestryDNA were interested in finding out about their ancestors, their past and their history," she said."This is our chancein this moment of history ... to take 5-10 minutes ... and do our best to help our community of friends or familyand the people who we don't even know who will be coming along later.

"It's our chance to contribute to the benefit of everybody. And I think right now, it'san opportunity that resonates with a lot of people."

Auton said the research could lead to therapies or treatments for people sickened by COVID-19.

"Hopefully, that can make a difference," he said.

Contact Kristen Jordan Shamus: 313-222-5997 or kshamus@freepress.com. Follow her on Twitter @kristenshamus.

Read or Share this story: https://www.freep.com/story/news/health/2020/05/26/genes-dna-ancestry-23-andme-coronavirus-covid-19/5223568002/

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Genetic genealogy companies Ancestry, 23andMe begin COVID-19 research - Detroit Free Press

Did Neanderthals draw? This B.C. researcher is going to test DNA in old cave art to find out – CBC.ca

Victoria cave researcher, Genevieve von Petzinger,is suddenly ina pretty good positiontofind what she calls the Holy Grail of her field.

The University of Victoriapaleoanthropologist, who specializes in European cave art, has been awarded a National Geographic grant to test genetic material found in cave wall paint in Spain to try tofind out who forgot to sign their work at least 40,000 years ago.

A DNA test, which would reveal genetic mutations due to evolution, could help pinpoint the time perioda painting was made and may helpdetermine if the art was actuallythe handiwork of humans or Neanderthals who lived about130,000 to 40,000 years ago.

"'It would just be so fascinating to see the identity," said PetzingerTuesday on On The Island."The million dollar question is, did Neanderthals paint?"

And there is already someindication, according to von Petzinger, thatthis extinct species was, in fact, artistic.

Von Petzingersaid, a few years ago, some of her colleagues tested samples of minerals they foundcovering cave drawings and determined the minerals to be 65,000 years old, which von Petzinger said indicated the art underneath was older and, therefore, drawn byNeanderthals.

But, she said, this dating methodwas hotly debated by others in the field.

"It was quite the big drama going back and forth," said von Petzinger, who then thought maybe genetic testing could bea way to get a definitive answer.

Genetictesting can even pinpoint the artist's gender and, saidvon Petzinger, possibly lead to findinga living descendent.

"This would be a world first," she said, her voice brimming with excitement.

Von Petzingersaid she is incredibly grateful to colleagues, the Spanish government and National Geographic for being willing to believe in her "crazy idea."

But it's not without precedent.

She said other researchers havehad success testing genetic material found in dirt on the floor of caves in Croatia and she is "cautiously optimistic"she will have similar success with paint substances.

There is a bit of a snag though.

The money is in place, and all the players are on board, but it could be awhile before von Petzinger can board a plane.

She said her tentative plan is to be back in the caves, where she previously spentasignificant amount of time doing field work, by summer 2021.

The COVID-19 pandemic has thrown a wrench into field work for many academics, but von Petzinger said she is staying connected with colleagues online andit isa great time for scientists to slog through statistical analysis work they might as well get done while they can't get out.

And it could be because of her line of work, but von Petzingeris cautiously optimistic about the current state of the world aswell.

"This pandemic is certainly a pretty scary thing, but our ancestors have survived some pretty scary things themselves," she said. "Our species is very resilient."

To hear the complete interview withGenevieve von Petzingeron On The Island tap here.

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Did Neanderthals draw? This B.C. researcher is going to test DNA in old cave art to find out - CBC.ca

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