Archive for the ‘Genetic Testing’ Category

This market study on Genetic Testing Market covers the global and regional market with an in-depth breakdown of the inclusive growth prospects in the market. Also, it sheds light on the wide-ranging competitive landscape of the global Genetic Testing market. It defines about the recent innovations, applications and end users of the market.The report first introduces the market basics like definitions, classifications, applications, and industry chain overview, and then industry policies and plans, product specifications, manufacturing processes, cost structures, and so on.Global Genetic Testing market report lends a hand with businesses to thrive in the market by providing them with an array of insights about the market and the industry. Inputs from various industry experts, essential for the detailed market analysis, have been used very carefully to generate this finest market research report.

Genetic testing market is expected to gain market growth in the forecast period of 2021 to 2028. Data Bridge Market Research analyses the market to reach at an estimated value of 585.81 billion and grow at a CAGR of 11.85% in the above-mentioned forecast period. Increase in incidences of genetic disorders and cancer drives the genetic testing market.

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The major players who are leading the market throughout the globe are:

The Genetic Testing market report comprises of several market dynamics and estimations of the growth rate and the market value based on market dynamics and growth inducing factors. For generation of an excellent market research report, principal attributes such as highest level of spirit, practical solutions, dedicated research and analysis, innovation, talent solutions, integrated approaches, most advanced technology and commitment plays a key role. The report contains reviews about key players in the market, major collaborations, merger and acquisitions along with trending innovation and business policies. While preparing the winning Genetic Testing report, markets on the local, regional as well as global level are explored.

Genetic Testing Market Segmentation:

By Type (Predictive & Presymptomatic Testing, Carrier Testing, Prenatal & Newborn Testing, Diagnostic Testing, Pharmacogenomic Testing, Others)

By Technology (Cytogenetic Testing, Biochemical Testing, and Molecular Testing)

By Application (Cancer Diagnosis, Genetic Disease Diagnosis, Cardiovascular Disease Diagnosis, Others)

By Disease (Alzheimers Disease, Cancer, Cystic Fibrosis, Sickle Cell Anemia, Duchenne Muscular Dystrophy, Thalassemia, Huntingtons Disease, Rare Diseases, Other Diseases)

MAJOR TOC OF THE REPORT:-

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Competitive Landscape and Genetic TestingMarket Share Analysis

Genetic testing market competitive landscape provides details by competitor. Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, production capacities, company strengths and weaknesses, product launch, product width and breadth, application dominance. The above data points provided are only related to the companies focus related to genetic testing market.

The major players covered in the genetic testing market report are 23andMe, Inc., Abbott., Ambry Genetics., BGI, Biocartis, BIO-HELIX, bioMrieux SA, Blueprint Genetics Oy, Cepheid., deCODE genetics, GeneDx, Inc., Exact Sciences Corp, HTG Molecular Diagnostics, Genomictree., Illumina, Inc, Invitae Corporation, Laboratory Corporation of America Holdings, Luminex Corporation., ICON plc, Myriad Genetics, Inc, Natera, Inc., Pacific Biosciences of California, Inc, Pathway Genomics, QIAGEN, Quest Diagnostics Incorporated, F. Hoffmann-La Roche Ltd and Siemens Healthcare Private Limited among other domestic and global players. Market share data is available for Global, North America, Europe, Asia-Pacific (APAC), Middle East and Africa (MEA) and South America separately. DBMR analysts understand competitive strengths and provide competitive analysis for each competitor separately.

Significant Highlights of the Report:

Centered Study on Strategy, Development & market Scenario

Global Top Companies Share Analysis in Genetic Testing Market

Achieve strategic insights on competitor information to develop powerful industry growth

Identify emerging players and create effective counter-strategies to cross the competitive edge

Identify crucial and various product types/distribution channel offering provided by major players for Genetic Testing market growth

To provide a more accurate market forecast, all our reports will be updated before delivery taking into account the effects of COVID-19.

Global Genetic Testing Market Scope and Market Size

Genetic testing market is segmented on the basis of type, technology, application, disease and product. The growth amongst these segments will help you analyse meagre growth segments in the industries, and provide the users with valuable market overview and market insights to help them in making strategic decisions for identification of core market applications.

Genetic Testing Market Country Level Analysis:

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Genetic Testing Market Analysis 2021 with Top Companies, Production, Consumption, Price and Growth Rate 23andMe, Abbott, Ambry, Genetics BGI KSU |...

SPOKANE, Wash., Feb. 1, 2021 /PRNewswire/ --Paw Print Genetics, a division of Genetic Veterinary Sciences, Inc., has launched 46 new, highly desired disease and trait tests to their ever-growing menu of genetic assays. This menu now consists of nearly 300 different tests for over 350 different breeds of dog, the largest in the industry.

Among these are new tests for Labrador retrievers, Beagles, Collies and many other breeds. All tests offered at Paw Print Genetics are based on the published, medical literature, and developed and validated in their laboratory in Spokane, WA.

"We are very excited to provide these tests to our customer community of breeders, veterinarians and dog owners." stated Dr. Lisa Shaffer, CEO of Paw Print Genetics. "By offering the largest menu of tests available, Paw Print Genetics continues to be the leading provider of testing for genetic conditions in dogs. With our staff of geneticists and veterinarians, we provide genetic counseling services to fully support our customers in their testing."

These additional tests further Paw Print Genetics' mission to help breeders achieve optimal canine genetic health. Paw Print Genetics strictly follows the published standards and guidelines for canine clinical genetic testing laboratories.As such, all testing conducted by Paw Print Genetics is performed in duplicate with two independent methods, ensuring a 99.9% accuracy rate.

Learn more about these new test offerings here: https://www.pawprintgenetics.com/blog/2021/01/28/paw-print-genetics-launches-46-new-tests-dogs/

About Paw Print Genetics

Located in Spokane, Washington, Paw Print Genetics was founded in 2012 and is dedicated to raising the standard in canine genetic diagnostic testing, carrier screening, and customer support. Paw Print Genetics' mission is to achieve optimal canine genetic health by providing outstanding resources for dog owners, breeders, trainers, and veterinarians for pets, show dogs and working dogs. For more information, visit https://www.pawprintgenetics.com/

For more information regarding this topic, please contact Jessica Pieros at [emailprotected].

Contact: Jessica Pieros 509-483-5950 [emailprotected]

SOURCE Paw Print Genetics

Read more:
Paw Print Genetics Launches 46 New Tests for Inherited Diseases and Traits Found in Canines - PRNewswire

Mutations Commonly Linked to Breast Cancer Found to Pose No Increased Risk

Several genetic mutations previously linked to breast cancer and included on commercial genetic tests, including direct-to-consumer tests, were found not to increase a womans risk of disease, according to a population study of more than 64,000 women published online on January 20, 2021 in theNew England Journal of Medicinefrom several institutions, includingPenn Medicine. The findings show that risks associated with mutations for women in the general population are often lower than previous estimates, and, importantly, provide new insights informing the debate over whom should be recommended for genetic testing.

Penn Medicine authors on the paperwhich analyzed data from the CARRIERS study, or CAnceR RIsk Estimates Related to SusceptibilityincludeKatherine L. Nathanson, deputy director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in thePerelman School of Medicine at the University of Pennsylvania,andSusan M. Domchek,executive director of theBasser Center for BRCAat the Abramson Cancer Center. Fergus J. Couch, of the Mayo Clinic, was the papers senior author.

According to past estimates, seven to ten percent of women with breast cancer carry pathogenic variants in genes associated with an increased risk. However, that statistic is based largely on studies of high-risk women, including those with a family history or a young age at the time of their cancer diagnosis.

This studythe first to look at a large group of women of different ages from the general populationsuggests that the frequency of pathogenic variants in genes associated with breast cancer risk among women in the general population is five percent. Further, of the 28 breast cancer genes studied, only 12 had clear evidence of associated cancer risk.

Recommendations for genetic screening vary, from testing all patients for genes associated with breast cancer to testing affected and unaffected women based on risk stratification. Many commercially available hereditary genetic tests also include a slew of genes that now appear, based off these findings, to not increase risk, which has the potential to lead to the delivery of misinformation, as well as affect treatment decisions.

This multi-institutional, collaborative study shows us a clearer picture of risk and genetic drivers for women in the general population who dont fall under the high-risk category, Dr. Domchek said. As discussions continue regarding the role of population screening, the CARRIERS data support careful gene selection.

For more information, visit https://tinyurl.com/BCmutations

Continue reading here:
Mutations Commonly Linked to Breast Cancer Found to Pose No Increased Risk - UPENN Almanac

So whats so bad about a fast-growing, aggressive strain of bass thats easy to catch? Sounds like an anglers dream, doesnt it?

In several nearby states, that dream has become a nightmare, one that might someday haunt anglers in West Virginia. The nightmares name? Alabama bass.

Its a species of black bass native to the Mobile Bay watershed in Alabama, Mississippi and Georgia. Before modern genetic testing proved differently in 2010, Alabama bass were thought to be a subspecies of the Kentucky spotted bass, which look a lot like largemouth bass but are usually smaller.

What anglers like about Alabama bass is that theyre every bit as aggressive as their Kentucky cousins, but can grow considerably larger. For that reason, some anglers have taken it upon themselves to stock Alabama bass in waters outside the species home range.

I call those people junior biologists, said Mark Scott, fisheries chief for the West Virginia Division of Natural Resources. They move these fish without giving any thought to how they might harm native [bass] species.

Scott said examples of that harm can be found in lakes and rivers throughout the South.

Alabama bass have been moved all over the place, unfortunately, he added. And theyre causing problems.

They outcompete native largemouth populations, and once they become the dominant species, they tend to stunt, leaving only a lot of smaller fish. They also interbreed with smallmouth bass, creating an undesirable hybrid.

Mike Bednarski, Scotts counterpart in the Virginia Department of Wildlife, has seen the consequences firsthand.

Weve got Alabama bass in half a dozen waters statewide, Bednarski said.

Theyre firmly established in Lake Gaston on the North Carolina border, in Diascund Creek Reservoir [near Newport News], and in Claytor Lake. We also have found them in Philpott Lake, Martinsville Reservoir, and in the Chickahominy River.

Bednarksi said agency officials didnt even know the fish were there until an angler in Claytor Lake caught what he thought was a state-record spotted bass.

That fish was so large, we did some genetic testing on it and found out it was really an Alabama bass, Bednarski explained.

Subsequent testing revealed the other populations. It also spurred Bednarski and his colleagues to issue strong warnings to anglers about importing the non-native species.

Weve engaged angler groups like the BASS Federation and [the Bass Angler Sportsman Society], he said. Theyre some of strongest advocates we have for fisheries conservation, and theyve been great about helping us to get the word out.

Bednarksi said he hopes bass fisheries in Virginia can avoid the impacts suffered in other states.

Alabama bass have pretty much wiped out the largemouth fishery in Lake Norman [in North Carolina and Tennessee], he said. In Lake Chatuge, in Georgia, theyve pretty much lost their smallmouth population. In Lake Heartwell, also in Georgia, the largemouth population has pretty much been replaced by Alabamas.

Although theres no evidence that anglers have brought Alabama bass to West Virginia, Scott considers Virginias Claytor Lake population to be too close for comfort.

Claytor Lake is on the New River, Scott explained. If the Alabama bass make it out of Claytor Lake and into the river, they could start hybridizing with New River smallmouth. It would be a shame if the world-class smallmouth fishery here in West Virginia ended up affected by the actions of some of some junior biologists over in Virginia.

Bednarksi said that doesnt appear to have happened yet, and he said Virginia DWR biologists are monitoring the situation to see if it does.

Im really concerned about the smallmouth fisheries in both the New and James rivers, he said. Alabama bass have become a real threat.

Partly as a hedge against Alabama bass, West Virginia DNR officials plan to launch a study into a statewide black-bass genetics study later this year.

Bass fishermen have asked us about stocking the Florida strain of largemouth, Scott said. Were doing this study so well know what we have before we introduce a new strain. If any Alabama bass show up, well look at that, too.

In the meantime, Scott has a message for bass anglers.

Please dont move fish, he said. You think youre making an excellent choice, but you arent. If you move fish, the ones you move might outcompete a fish you dont want them to outcompete.

Moving fish, even between watersheds, is illegal in West Virginia. Just dont do it.

Read more:
WV fisheries officials fear spread of invasive Alabama bass - Charleston Gazette-Mail

Clinicians will soon be able to use gene panel testing to identify those most at risk from developing breast cancer, thanks to 2,000 DNA samples gathered in Ireland and which were used as part of an international study involving more than 113,000 women, Peter Doyle reports

There are nine specific genes associated with breast cancer risk, according to the results of an international project with significant Irish involvement. The University of Cambridge-led BRIDGES (Breast Cancer Risk after Diagnostic Gene Sequencing) study aimed to identify women at high risk of breast cancer and to develop sensitive and informative gene panel testing for the prediction of breast cancer risk.

During gene panel testing, specific genes linked to a particular genetic condition are examined at the same time.

BRIDGES investigators had used a panel of 34 putative susceptibility genes to perform sequencing on samples from 60,466 women with breast cancer and 53,461 controls.

In separate analyses for protein-truncating variants and rare missense variants in these genes, they also estimated odds ratios for breast cancer overall and tumour subtypes and evaluated missense-variant associations according to domain and classification of pathogenicity.

DNA samples collected from 2,000 Irish patients and controls as part of NUI Galways Breast Cancer in Galway Genetics Study (BIGGS) also contributed to the findings of the paper, which were published in the January 2021 edition of the New England Journal of Medicine (Breast Cancer Risk Genes Association Analysis in More than 113,000 Women; NEJM, doi: 10.1056/NEJMoa1913948).

Contributing author Prof. Michael Kerin, Chair of Surgery at NUI Galway, Director of the Cancer Managed Clinical Academic Network for Saolta University Health Care Group, along with Dr Nicola Miller, Lecturer in NUI Galways School of Medicine, has directed the BIGGS since 2008.

With this (BRIDGES) study we can identify members within families, who have a higher risk of getting breast cancer, and then can avail of breast cancer reduction strategies, such as risk reduction surgery, in order to ensure they dont get the disease, Prof. Kerin said.

Dr Miller added that the some of the funding for the research had originated from breast cancer charities.

This work highlights the importance of collaboration in breast cancer research in the generation of data of global significance, she said.

It helps to better define the genes associated with breast cancer risk. While we cant change the genes we inherit, this knowledge will benefit patients undergoing genetic testing for breast-cancer susceptibility. We gratefully acknowledge the ongoing support of the National Breast Cancer Research Institute for funding the Irish contribution of this study.

Prof. Michael Kerin. Photo: Kelvin Gilmor

Writing in the NEJM, BRIDGES investigators said that genetic testing for cancer susceptibility was an established part of medical practice.

But, until recently, testing was performed mainly in patients with a strong family history of cancer and involved a limited number of genes known to be associated with a high risk of cancer or with specific cancer syndromes.

With the advent of affordable sequencing, testing with larger panels of genes has become possible, they wrote.

However, for many genes on such panels, evidence of an association with cancer is often weak and accurate estimates of the cancer risks associated with variants are often not available.

To better define the set of genes associated with breast cancer risk, they designed a panel consisting of 34 known or suspected breast cancer susceptibility genes and which included genes provided on commercial panels.

The data from the study was subsequently used to estimate the risks of breast cancer overall and tumour subtypes associated with germline protein-truncating variants, and rare missense variants in these genes.

The primary analyses were burden analyses in which odds ratios and 95 per cent confidence intervals for breast cancer associated with the presence of any variant in a given category were estimated by means of logistic regression, investigators wrote.

The two main categories were protein-truncating variants and rare missense variants (i.e., variants with a population frequency of <0.001). Missense-variant associations were evaluated according to domain and classification of pathogenicity. Analyses were also conducted according to tumour subtype, age, and ancestry (European vs. Asian).

The results showed that protein-truncating variants in five genes (ATM, BRCA1, BRCA2, CHEK2, and PALB2) were associated with a significant risk of breast cancer overall.

There was more modest evidence of an association with breast cancer overall for protein-truncating variants in seven other genes: BARD1, RAD51C, RAD51D, PTEN, NF1, TP53, and MSH6.

For four of these genes (BARD1, RAD51C, RAD51D, and TP53), the Bayesian false-discovery probability was less than 0.05.

Commenting on the results, investigators said that they found strong evidence of an association with breast cancer risk (Bayesian false-discovery probability, <0.05) for protein-truncating variants in nine genes: ATM, BRCA1, BRCA2, CHEK2, PALB2, BARD1, RAD51C, RAD51D, and TP53.

The data, however, varied according to the location of study participants; while in the population-based studies, odds ratios decreased significantly with increasing age for six genes BRCA1, BRCA2, CHEK2, PALB2, PTEN, and TP5.

Among European women, approximately 6.8 per cent of the patients and 2 per cent of the controls had protein-truncating variants in any of the nine genes associated with breast cancer risk; in addition, 2.2 per cent of the patients and 1.4 per cent of the controls had missense variants in CHEK2, investigators noted.

The frequency of protein-truncating variants among Asian women (4.4 per cent of the patients and 1.3 per cent of the controls) was lower than the frequency among European women; this finding is attributable to the much lower frequency of the c.1100delC variant in CHEK2 among Asian women.

For carriers of protein-truncating variants in BRCA1, BRCA2, and PALB2, the estimated absolute risks by 80 years of age exceeded the 30 per cent threshold for high risk, as defined by National Institute for Health and Care Excellence guidelines.

Investigators said that their findings may be used to guide screening, as well as prevention with risk-reducing surgery or medication, in accordance with national guidelines.

The results of this study define the genes that are most clinically useful for inclusion on panels for the prediction of breast cancer risk, as well as provide estimates of the risks associated with protein-truncating variants, to guide genetic counselling, they explained.

The absolute risk estimates place protein-truncating variants in BRCA1, BRCA2, and PALB2 in the high-risk category and place protein-truncating variants in ATM, BARD1, CHEK2, RAD51C, and RAD51D in the moderate-risk category.

But they cautioned that because breast cancer risk was influenced by other genetic and lifestyle factors, in addition to family history, the incorporation of this information into risk models would be required to give appropriate estimates.

Despite the size of this study, the evidence of an association with breast cancer risk for several of the genes we analysed (e.g., FANCM, MSH6, and NF1) remains equivocal, and even for the genes that had a clear association with risk, the confidence intervals for the risk estimates are wide, they concluded.

Incorporation of pedigree data and combined analyses with other studies may improve the precision of these estimates. In the meantime, these results may help to guide the clinical reporting of results generated by multigene-panel testing and the counselling of women who are undergoing genetic testing for breast cancer susceptibility.

Prof. Kerin also said that he wanted to thank all the patients who have allowed investigators to use their tissue and blood samples in these studies.

One of the things that strikes me as a clinician is that almost never have I been refused participation in a research study, by any patient that I ask, and believe me I ask them all, he said.

And most people are very glad to be able to contribute something that helps people other than themselves.

Read more:
Using gene testing to assess the risk of breast cancer - Irish Medical Times

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The Predictive Genetic Testing And Consumer/Wellness Genomics Market is segmented based on key manufacturers, product types and prime applications

Vital Manufacturers profiled in this report are:

IlluminaBGIGenesis GeneticsMyriad Genetics23andMe, IncColor Genomics IncPathway GenomicsARUP Laboratories

Predictive Genetic Testing And Consumer/Wellness Genomics market fragmentation by Product Types:

Predictive TestingConsumer GenomicsWellness Genomics

Major Application mentioned in this report are:

Breast & Ovarian CancerCardiovascular screeningDiabetic Screening & MonitoringColon CancerOther

Regions included in Predictive Genetic Testing And Consumer/Wellness Genomics market are North America (USA, Canada and Mexico), Europe (Germany, France, UK, Russia and Italy), Asia-Pacific (China, Japan, Korea, India and Southeast Asia), South America (Brazil, Argentina, Colombia), Middle East & Africa (Saudi Arabia, UAE, Egypt, Nigeria and South Africa).

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Here is the original post:
Predictive Genetic Testing And Consumer/Wellness Genomics Market (Effects of COVID-19) Prospect 2021-2027 | Illumina, BGI, Genesis Genetics KSU | The...

by: Caroline Carithers, WKRG, Nexstar Media Wire

MOBILE, Ala. (WKRG) After decades of research, a new species of whale has been discovered in the Gulf of Mexico.

Recently, the National Oceanic and Atmospheric Administration discovered that the Brydes whales that live in the Gulf are actually a new species now called Rices whale.

A couple of incidents of stranded whales allowed scientists to study them, but the breakthrough came in January 2019, when a 38-foot-long whale washed ashore in the Florida Everglades, according to Live Science. The stranding provided plenty of accurate samples that helped lead scientists to the discovery.

Unfortunately, the Rices whale is severely endangered. Scientists estimate around 33 of them are left on the planet. Most are concentrated in the northern Gulf of Mexico.

Almost overnight, there is this new critically endangered species literally in the northern Gulf of Mexico, said Mackenzie Russell, the stranding coordinator for the Alabama Marine Mammal Stranding Network.

Since the 1960s, researchers have noticed subtle differences in the Brydes whales that live in the Gulf of Mexico compared with those that live elsewhere.

Just something a little bit different from kind of a standard of what we thought a Brydes whale was, said Russell. That had to do with skull morphology, the anatomy of the skull, and then these different feeding behaviors.

The Brydes whale is known to eat mainly at the surface of the water, while the Rices whale dives deep to find food.

It grows to be about 55 feet, potentially up to 30 tons, so theyre huge, as you can imagine, Russell said. And just like other baleen whales, they filter feed. They actually have plates called baleen that they filter feed through.

In 2016, two fishermen found a lower jaw bone of a whale and brought it to the Dauphin Island Sea Lab. Researchers there are now doing genetic testing and believe the bone could belong to the new species.

Go here to see the original:
Endangered whale living in Gulf of Mexico found to be new species - WJW FOX 8 News Cleveland

Zion Market Research The report titled Global Direct-To-Consumer (DTC) Genetic Testing Market Expected to Observe Major Growth by 2026| Zion Market Research utilizing diverse methodologies aims to examine and put forth in-depth and accurate data regarding the globalDirect-To-Consumer (DTC) Genetic Testing Market. The report is segregated into different well-defined sections to provide the reader with an easy and understandable informational document. Further, each section is elaborated with all the required data to gain knowledge about the market before entering it or reinforcing their current foothold. The report is divided into:

The Direct-To-Consumer (DTC) Genetic Testing Market report through its overview sectionprovides the overall scenario and dynamics of the global Direct-To-Consumer (DTC) Genetic Testing Market with its definition and other details. Further, the key player and competitive landscape segment of the report enlist the various players actively participating and competing in the global market. The report also entails the new market entrants. The key major market players includeFull Genomes, Pathway Genomics, MyHeritage, 23andMe, Ancestry, Genesis HealthCare, Family Tree DNA, Color, Helix, EasyDNA, Identigene, Karmagenes, MapMyGenome, and Living DNA.The report encompasses the leading manufacturers along with their respective share in the global market in terms of revenue. Moreover, it mentions their tactical steps in the last few years, leadership changes, and product innovation investments to help in making well-informed decisions and also to stay at the forefront in the competition.

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Moving to the growth drivers and restraints section, one will be presented with all factors that are directly or indirectly aiding the growth of the global Direct-To-Consumer (DTC) Genetic Testing Market. To get acquainted with the markets growth statistics, it is essential to assess the several drivers of the market. In addition, the report also puts forth the existing trends along with new and possible growth opportunities in the global market. Moreover, the report includes the factors that can possibly hinder the growth of the market. Understanding these factors is similarly crucial as they aid in comprehending the markets weaknesses.

The segmentation of the global Direct-To-Consumer (DTC) Genetic Testing Market segregates the market based on different aspects such as Product, Applications, End-Users, and Major Regions. Further, each segment is elaborated providing all the vital details along with growth analysis for the forecast period. The report also divides the market by region into North America, Europe, Asia Pacific, the Middle East & Africa, and Latin America. Theregional analysiscovers the volume and revenue assessment of every region along with their respective countries. In addition, the report also entails various market aspects such as import & export, supply chain value, market share, sales, volume, and so on.

Global Direct-To-Consumer (DTC) Genetic Testing Market: Regional Analysis

Primary and secondary approaches are being used by analysts and researchers to compile these data. Thus, this Direct-To-Consumer (DTC) Genetic Testing Market report is intended at directing the readers to better, apprehensive, and clearer facts and data of the global Direct-To-Consumer (DTC) Genetic Testing Market.

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Following are significant Table of Content of Direct-To-Consumer (DTC) Genetic Testing Market Report:

1. Industry Overview of Direct-To-Consumer (DTC) Genetic Testing Market.

2. Assembling Cost Structure Analysis of Direct-To-Consumer (DTC) Genetic Testing Market.

3. Specialized Data and Manufacturing Plants Analysis of Direct-To-Consumer (DTC) Genetic Testing Market.

4.Capacity, Production, and Revenue Analysis.

5. Value, Cost, Gross and Gross Margin Analysis of Direct-To-Consumer (DTC) Genetic Testing Market by Regions, Types, and Manufacturers.

6. Utilization Volume, Consumption Value, and Sale Price Analysis of Direct-To-Consumer (DTC) Genetic Testing Market industry by Regions, Types, and Applications.

7. Supply, Import, Export, and Consumption Analysis of Direct-To-Consumer (DTC) Genetic Testing Market.

8. Significant Manufacturers Analysis of Direct-To-Consumer (DTC) Genetic Testing Market industry.

9. Advertising Trader or Distributor Analysis of Direct-To-Consumer (DTC) Genetic Testing Market.

10. Industry Chain Analysis of Direct-To-Consumer (DTC) Genetic Testing Market.

11. Advancement Trend Analysis of Direct-To-Consumer (DTC) Genetic Testing Market.

12. New Project Investment Feasibility Analysis of Direct-To-Consumer (DTC) Genetic Testing Market.

13. Finish of the Direct-To-Consumer (DTC) Genetic Testing Market Industry.

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Global Direct-To-Consumer (DTC) Genetic Testing Market Expected to Observe Major Growth by 2026| Zion Market Research KSU | The Sentinel Newspaper -...

SAN CARLOS, Calif., Feb. 3, 2021 /PRNewswire/ --Natera, Inc. (NASDAQ: NTRA), a pioneer and global leader in cfDNA testing, presented key results from its SMART study at the SMFM 41st Annual Pregnancy Meeting.1-3 The SMART study is the largest prospective, multi-site study ever performed in NIPT, and the only to collect genetic confirmation of outcomes on the vast majority of subjects.The study rigorously tested the performance of the current version of Panorama, confirming its market-leading performance in a real-world setting and extending Panorama's position as the most thoroughly studied NIPT on the market. The study also includes the validation of a new deep-learning, artificial intelligence-based algorithm for Panorama called Panorama AI, which utilizes information from over 2 million cfDNA tests performed by Natera.

Key findings:

"Our market leadership has been driven by our focus on offering the most accurate NIPT test. We are excited to announce Panorama AI, which extends Natera's technology leadership, delivers reliable results for more patients, and provides more clinically useful information for those with very low levels of cell-free DNA," said Matthew Rabinowitz, co-founder of Natera and Executive Chairman of the Board. "We are happy with the response to the groundbreaking results presented at SMFM. The performance will help drive increased utilization of Panorama, at a time when many physicians are implementing average risk NIPT, as we predicted."

"Panorama's performance and unique capabilities have been documented in 23 peer-reviewed publications including over 1.2 million patients more than any other NIPT. With SMART, we have demonstrated robust performance, in a large prospective study across 21 global sites on 3 continents, which is unparalleled in the industry," said Sheetal Parmar, VP of Medical Affairs and Head of Clinical Services at Natera. "We are proud of our commitment to innovation and the opportunity to positively impact many more pregnancies as we look ahead."

About Panorama

Panoramareveals a baby's risk for severe genetic disorders as early as nine weeks into pregnancy. The test uses a unique single-nucleotide polymorphism (SNP)-based technology to analyze fetal/placental DNA obtained through a blood draw from the mother. It is the only commercially available test that differentiates between maternal and fetal DNA to assess the risk of aneuploidies. The test also screens twin pregnancies for zygosity and fetal sex of each baby, and identifies risk for more genetic conditions in twin pregnancies than any other NIPT. Panorama is one of several genetic screening tests from Natera designed to help families on the path to parenthood. Natera has published 23 papers, studying over 1.3 million patients, since the launch of Panorama the largest body of evidence in the space today. Panorama has been developed and its performance characteristics determined by Natera, the CLIA-certified laboratory performing the test. The test has not been cleared or approved by the US Food and Drug Administration (FDA). CAP accredited, ISO 13485 certified, and CLIA certified.

About Natera

Naterais a pioneer and global leader in cell-free DNA testing from a simple blood draw. The mission of the company is to change the management of disease worldwide with a focus on women's health, oncology, and organ health. Natera operates ISO 13485-certified and CAP-accredited laboratories certified under the Clinical Laboratory Improvement Amendments (CLIA) in San Carlos, California and Austin, Texas. It offers proprietary genetic testing services to inform obstetricians, transplant physicians, oncologists, and cancer researchers, including biopharmaceutical companies, and genetic laboratories through its cloud-based software platform. For more information, visit natera.com. Follow Natera on LinkedIn.

Forward-Looking Statements

All statements other than statements of historical facts contained in this press release are forward-looking statements and are not a representation that Natera's plans, estimates, or expectations will be achieved. These forward-looking statements represent Natera's expectations as of the date of this press release, and Natera disclaims any obligation to update the forward-looking statements. These forward-looking statements are subject to known and unknown risks and uncertainties that may cause actual results to differ materially, including with respect to our efforts to develop and commercialize new product offerings, our ability to successfully increase demand for and grow revenues for our product offerings, whether the results of clinical or other studies will support the use of our product offerings, our expectations of the reliability, accuracy and performance of our tests, or of the benefits of our tests and product offerings to patients, providers and payers. Additional risks and uncertainties are discussed in greater detail in "Risk Factors" in Natera's recent filings on Forms 10-K and 10-Q and in other filings Natera makes with the SEC from time to time. These documents are available atwww.natera.com/investorsandwww.sec.gov.

Contacts

Investor Relations: Mike Brophy, CFO, Natera, Inc., 510-826-2350Media: Paul Greenland, VP of Corporate Marketing, Natera, Inc., [emailprotected]

References

SOURCE Natera, Inc.

Transforming Management of Genetic Disease

Original post:
Panorama SMART Study Confirms Market-Leading Performance in Largest Prospective NIPT Trial to Date - PRNewswire

Andrew Brooks, a research professor at Rutgers University who developed the first saliva test for the coronavirus, died on Jan. 23 in Manhattan. He was 51.

The cause was a heart attack, his sister, Janet Green, said.

In April 2020, when coronavirus tests were scarce and lines to get them long, Dr. Brooks made worldwide news when the Food and Drug Administration gave emergency approval to his technique, which promised to radically increase the speed and safety of the testing process.

Instead of having a naso- or oropharyngeal swab thats placed in your nose or the back of your throat, you simply have to spit in a tube, he told Bill Hemmer of Fox News, adding, It doesnt require a health care worker to collect it, six inches away from an infected person.

In the 10 months since Dr. Brooks received approval, health care workers have performed more than four million tests using his approach, and it remains one of the most reliable means of determining whether someone has the coronavirus.

In a statement, Gov. Phil Murphy of New Jersey called Dr. Brooks one of the states unsung heroes who had undoubtedly saved lives.

Andrew Ira Brooks was born on Feb. 10, 1969, in Bronxville, N.Y. His father, Perry H. Brooks, was a diamond setter. His mother, Phyllis (Heitner) Brooks, was a schoolteacher.

In addition to his sister, he is survived by his mother; his wife, Jil (Larsen) Brooks; and three daughters, Lauren, Hannah and Danielle. His first two marriages ended in divorce.

Dr. Brooks grew up in Old Bridge, N.J., where he earned spending money by performing magic shows at birthday parties. Though he was adept at tricks involving doves and rabbits, his real forte was close-up handwork, especially card tricks.

He played varsity golf at Cornell, where he majored in animal sciences, having initially planned to become a veterinarian. But after a summer internship at the Memorial Sloan Kettering Cancer Center in Manhattan, he grew fascinated with the study of human disease. He received a doctorate in microbiology and immunology from the University of Rochester in 2000.

After working at the universitys medical center for four years, he returned to New Jersey to take a job at Rutgers, and in 2009 joined its Cell and DNA Repository, a university-owned company that provides data management and analysis for biological research.

Feb. 6, 2021, 6:56 p.m. ET

Dr. Brooks became the companys chief operating officer, discovering that he had a flair for the business side of science. He expanded the company from just a few dozen employees to nearly 250, working with nearly every major pharmaceutical company.

Most scientists I meet are not interested, or are incidentally interested, in the commercialization of what they do, said Dr. Jay Tischfield, a Rutgers professor and chief executive of the repository. Andy understood that if you want something to get out and be used, you have to be a player. You cant rely on other people.

In 2018 the company, by then called the Rutgers University Cell and DNA Repository Infinite Biologics, decided to go private; Dr. Brooks was named chief executive. The university agreed with the move but kept a significant stake in the new company, now called Infinity Biologix.

The resources and experience he accrued at the repository made it relatively easy for Dr. Brooks to develop the coronavirus spit test, which he did in partnership with two other companies, Spectrum Solutions and Accurate Diagnostics Labs.

He was used to doing genetic testing through saliva, and it wasnt rocket science, Dr. Tischfield said, to adapt those techniques to extract RNA from the coronavirus. The company even had thousands of tubes on hand that it could use to collect samples.

After the F.D.A. granted approval, Dr. Brooks faced a different challenge: scale. He needed significantly more equipment and staff, immediately, to produce the tests and process the results. But a propitious call from the White House offering help, and a multimillion-dollar loan arranged by Dr. Tischfield allowed the company to add additional analytic equipment rapidly and to nearly double its work force almost overnight.

As important as the actual saliva test was, it was Dr. Brookss ability to rapidly scale up the operation in the middle of taking it private that most impressed Dr. Tischfield.

Ive been doing this for 50 years, and Ive met all kinds of people, he said. But Andy, he was a force of nature.

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Andrew Brooks, Who Developed a Coronavirus Spit Test, Dies at 51 - The New York Times

Fort Collins, Colorado: A new informative report on the Preimplantation Genetic Testing (PGT) (PGS/PGD) Market has recently published by Reports Globe to its massive repository. The primary and secondary research techniques have been used to compile data from different sources such as websites, media publications, and press releases. The Preimplantation Genetic Testing (PGT) (PGS/PGD) market offers up-to-date information on different market segments and sub-segments. It offers an all-inclusive study of different key factors affecting the growth of the Preimplantation Genetic Testing (PGT) (PGS/PGD) market. The global market research report offers extensive research on different technologies, tools, and standard methodologies that are fueling the growth prospect of the Preimplantation Genetic Testing (PGT) (PGS/PGD) market.

Preimplantation genetic testing (PGT) (PGS/PGD) market garnered a revenue of USD 98.23 million in the year 2019 globally and has been foreseen to yield USD 201.32 million by the year 2027 at a compound annual growth (CAGR) of 5.1% over the forecast period.

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Preimplantation Genetic Testing (PGT) (PGS/PGD) Market, By Application (2016-2027)

Preimplantation Genetic Testing (PGT) (PGS/PGD) Market, By PGD/PGS (2016-2027)

Preimplantation Genetic Testing (PGT) (PGS/PGD) Market, By Type (2016-2027)

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North America (USA, Canada)Latin America (Chile, Brazil, Argentina, rest of Latin America)Europe (UK, Italy, Germany, France, rest of the EU)Asia Pacific (India, Japan, China, South Korea, Australia, rest of APAC)Middle East and Africa (Saudi Arabia, United Arab Emirates, South Africa, rest of MEA)

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Preimplantation Genetic Testing (PGT) (PGS/PGD) Market Size, Top Key Players, Applications, Business Statistics, Trends and Forecast 2021-2027 ...

A new market study is released on Global Animal Genetic Market with data Tables for historical and forecast years represented with Chats & Graphs spread through Pages with easy to understand detailed analysis. This report is delivered as the most relevant, unique, fair, and creditable global market research report to valuable customers and clients depending upon their specific business needs. It facilitates in adjusting the production depending on the conditions of demand which avoids wastage of goods. Market research reports like this Global Animal Genetic Market surely helps to reduce business risk and failure. Major competitor strategies include but are not limited to new product launches, expansions, agreements, joint ventures, partnerships, and acquisitions. Research and analysis is carried out with one step or the combination of several steps depending upon the client need and the business requirements.

Global Animal Genetic Market Statistical Overview Report 2021 gives an outstanding tool for market Survey, openings, and vital key and strategic basic leadership. This report perceives that in this quickly advancing and competitive scenario by up-coming data on the basis of research execution and settled on basic choices for development and benefit. It gives data on Latest trends and advancements and sheds light on various sectors, limitations and advancements, and on the evolving structure of the market.

Global Animal Genetic Marketis expected to rise from its estimated value of USD 4.39 billion in 2018 to an estimated value of USD 8.68 billion by 2026 registering a CAGR of 8.9% in the forecast period of 2019-2026.The upcoming market report contains data for historic years 2017, the base year of calculation is 2018 and the forecast period is 2019 to 2026.

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Few of the major market competitors currently working in the animal genetics market areNEOGEN CORPORATION, Zoetis, Envigo, Animal Genetics Inc., VetGen, Groupe Grimaud, Hendrix Genetics BV, EW Nutrition GmbH, Alta Genetics Inc., Genus, Topigs Norsvin, CRV Holding B.V., URUS, Trans Ova Genetics., Inguran LLC dba STgenetics., Semex, Beacon Automation Pty Ltd., Cogent, EVOLUTION International , Genex Services, LLC, Rockway, Inc., River Valley Dairy., ABS GLOBAL, INC., Anicam Enterprises Inc., Milk Source. among others

Competitive Analysis: Global Animal Genetic Market

The global animal genetics market is highly fragmented and the major players have used various strategies such as new product launches, expansions, agreements, joint ventures, partnerships, acquisitions, and others to increase their footprints in this market. The report includes market shares of global animal genetics market for Global, Europe, North America, Asia Pacific, South America and Middle East & Africa.

Global Animal Genetic Market By Product (Live Animals (Poultry, Porcine, Bovines, Canine, Others), Genetic Material (Semens, Embroys)), Genetic Testing Services (DNA typing, genetic trait tests, genetic disease tests, and others), Geography (North America, South America, Europe, Asia-Pacific and Middle East and Africa) Industry Trends & Forecast to 2026;

Market Definition: Global Animal Genetic Market

Animal genetics is the branch of science which deals with the study of inheritance and gene variation in domestic and wild animals. Animal genetics are mostly used for genetic trait testing, DNA testing, and genetic disease traiting. The animal genetics market is expected to increase due to the fast demand, ingesting of animal proteins, and surge in urban population, which shows demand for meat products across the globe during the forecast period.

Market Drivers

Market Restraints

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Segmentation: Global Animal Genetic Market

By Product

By Genetic Testing Services

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Global Animal Genetic Market Incredible Possibilities, Growth With Industry Study, Detailed Analysis And Forecast To 2021 2027 KSU | The Sentinel...

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Sana Biotechnology led the way with a very large initial public offering (IPO) that could bring the companys market value to $4.6 billion or more. But its not the only IPO this week. Heres a look.

Sana Biotechnology Sana announced plans to raise $517 million with 22 million shares at a price range of $23 to $24 per share. The company previously filed to offer 15 million shares at a range of $20 to $23. At the midpoint of the revised range, the company plans to raise 60% more in proceeds than they had previously expected.

The company is working to develop in vivo and ex vivo cell engineering platforms for oncology, diabetes, central nervous system disorders, cardiovascular diseases and genetic disorders.

On October 30, 2020, Sana acquired Oscine Corp., which focuses on developing cell therapies for brain and CNS disorders. Oscine offers up a glial progenitor cell program and various underlying technologies. Glial progenitor cells play a role in supporting the brain.

Sana has a broad preclinical pipeline with 11 programs ranging from non-Hodgkin lymphoma (NHL), acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL) and multiple myeloma to sickle cell disease, beta-thalassemia, type 1 diabetes and others. The company raised more than $700 million in private funding and will have a market value of about $4.6 billion. Theyre also offering an additional 30-day option for another 3.525 million shares to underwriters, which if they are fully exercised, could bring the IPO raised to $675.6 million.

Sensei Biotherapeutics Sensei announced the pricing of its upsized IPO of 7,000,052 shares of common stock at $19 per share. The company hopes to raise $133 million. On January 11, 2021, Sensei announced the closing of a $30 million Series B financing, co-led by Apeiron Investment Group and Catalio Capital Management. Additional investors included Pura Vida, several international family offices, and Cambrina Biopharma, Moore Strategic Ventures, Steve Jurvetsons Future Ventures, and Presight Capital.

Sensei focuses on immunotherapies for cancer and infectious diseases. It has developed a phage-based platform, ImmunoPhage. A phage is a virus that infects bacteria. This platform allows for the rapid creation of immune activating agents that fully engage the immune system. It has used it to develop a library of ImmunoPhage called Phortress targeting multiple tumor associated antigens. Its most advanced program is SNS-301, a first-in-class ImmunoPhage targeting Aspartyl beta Hydroxylase (ASPH) in advanced squamous cell carcinoma of the head and neck (SCCHN).

Landos Biopharma Landos announced plans to raise $100 million for its IPO of 6,250,000 shares of common stock at $16 per share. Landos is working to develop novel oral therapeutics for autoimmune diseases. On January 4, 2021, the company announced positive results from a first-in-patients 12-week Phase II proof-of-concept trial of BT-11, an oral gut-restricted LANCL2 modulator in mild to moderate ulcerative colitis (UC).

We are excited by the very promising Phase II trial results evaluating BT-11, as it marks the first potential therapeutic to engage the novel target LANCL2, said Josep Bassaganya-Riera, chairman, president and chief executive officer of Landos. We believe this novel mechanism of action is responsible for modulating key immunological mechanisms associated with various autoimmune diseases such as ulcerative colitis and Crohns disease.

Aspira Womens Health Aspira announced plans to raise $45 million with its IPO of 6 million shares at a price of $7.50 per share. It plans to use the proceeds for sales and marketing, working capital and other general corporate purposes. The company, formerly known as Vermillion, is developing and commercializing innovative testing options and bio-analytical solutions to help doctors evaluate risk, optimize patient management and improve gynecologic health. OV1 plus combines its OVA1 and OVERA to detect risk of ovarian malignancy in women with adnexal masses. Aspira GenetiX offers targeted and comprehensive genetic testing options with a gynecologic focus.

On November 19, 2020, the company inked a collaborative research deal with Baylor Genetics in Houston to co-develop a novel Ovarian Cancer early-detection test.

We look forward to combining the strengths from each respective research team, and working together on our OVA360 clinical study, specifically in our mutual goal of characterizing an Ovarian Cancer molecular profile, said Lesley Northrop, chief scientific officer at Aspira, in a November statement.

Equillium Equillium entered into a securities purchase agreement with life science institutional investment funds managed by Decheng Capital, to acquire 4,285,710 units from Equilliuim. Each unit consists of one share of common stock and a warrant to purchase 0.3 of a share of common stock. The purchase price per unit is $7, priced above the market under Nasdaq rules. The warrants will have an exercise price of $14 per share, will be immediately exercisable, and will expire on the earlier of the fifth anniversary of issuance or the 15th calendar date after the data on which Equillium closes a financing raising a minimum of $25 million at a price per share of no less than $25.

Equillium is focused on immunology and developing new products for severe autoimmune and inflammatory disorders. On December 7, 2020, the company presented data at the 2020 American Society of Hematology (ASH) Annual Meeting and Exposition on the impact of itolizumab on effector T cell function in graft-versus-host autoimmune and inflammatory disorders. The findings demonstrated that the CD6-ALCAM pathway is crucial in modulating effector T cell function, and that inhibition of CD6 signaling with itolizumab can modulate multiple effector T cell subsets.

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New findings of breast cancer gene mutations in women who have no family history of the disease offer a new way of estimating risk and may change the way in which these women are advised on risk management.

The findings come from two large studies, both published on January 20 in The New England Journal of Medicine.

The two articles are "extraordinary" for broadening and validating the genomic panel to help screen women at risk for breast cancer in the future, commented Eric Topol, MD, professor of molecular medicine, Scripps Research, La Jolla, California, and Medscape editor-in-chief.

"Traditionally, genetic testing of inherited breast cancer genes has focused on women at high risk who have a strong family history of breast cancer or those who were diagnosed at an early age, such as under 45 years," commented the lead investigator of one of studies, Fergus Couch, PhD, pathologist at the Mayo Clinic, Rochester, Minnesota.

"[Although] the risk of developing breast cancer is generally lower for women without a family history of the disease...when we looked at all women, we found that 30% of breast cancer mutations occurred in women who are not high-risk," he said.

In both studies, mutations or variants in eight genes BRCA1, BRCA2, PALB2, BARD1, RAD51C, RAD51D, ATM, and CHEK2 were found to be significantly associated with breast cancer risk.

However, the distribution of mutations among women with breast cancer differed from the distribution among unaffected women, notes Steven Narod, MD, from the Women's College Research Institute, Toronto, Ontario, Canada, in an accompanying editorial.

"What this means to clinicians, now that we are expanding the use of gene-panel testing to include unaffected women with a moderate risk of breast cancer in the family history, is that our time will increasingly be spent counseling women with CHEK2 and ATM mutations," he writes. Currently these two are "clumped in with 'other genes'.... [M]ost of the pretest discussion is currently focused on the implications of finding a BRCA1 or BRCA2 mutation."

The new findings may lead to new risk management strategies, he suggests. "Most breast cancers that occur in women with a mutation in ATM or CHEK2 are estrogen receptor positive, so these women may be candidates for anti-estrogen therapies such as tamoxifen, raloxifene, or aromatase inhibitors," he writes.

Narod observes that for now, the management of most women with either mutation will consist of screening alone, starting with MRI at age 40 years.

The medical community is not ready yet to expand genetic screening to the general population, cautions Walton Taylor, MD, past president of the American Society of Breast Surgeons (ASBrS).

The ASBrS currently recommends that all patients with breast cancer as well as those at high risk for breast cancer be offered genetic testing. "All women at risk should be tested, and all patients with pathogenic variants need to be managed appropriately it saves lives," Taylor emphasized.

However, "unaffected people with no family history do not need genetic testing at this time," he told Medscape Medical News.

As to what physicians might do to better manage patients with mutations that predispose to breast cancer, Taylor said, "It's surprisingly easy."

Every genetic testing company provides genetic counselors to guide patients through next steps, Taylor pointed out, and most cancer patients have nurse navigators who make sure patients get tested and followed appropriately.

Members of the ASBrS follow the National Comprehensive Cancer Network guidelines when they identify carriers of a pathogenic variant. Taylor says these are very useful guidelines for virtually all mutations identified thus far.

"This research is not necessarily new, but it is confirmatory for what we are doing, and that helps us make sure we are going down the right pathway," Taylor said. "It confirms that what we think is right is right and that matters," he reaffirmed.

The study led by Mayo's Couch was carried out by the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. It involved analyzing data from 17 epidemiology studies that focused on women in the general population who develop breast cancer. For the studies, which were conducted in the United States, pathogenic variants in 28 cancer-predisposition genes were sequenced from 32,247 women with breast cancer (case patients) and 32,544 unaffected women (control persons).

In the overall CARRIERS analysis, the prevalence of pathogenic variants in 12 clinically actionable genes was 5.03% among case patients and 1.63% among control persons. The prevalence was similar in non-Hispanic White women, non-Hispanic Black women, and Hispanic case patients, as well as control persons, they add. The prevalence of pathogenic variants among Asian American case patients was lower, at only 1.64%, they note.

Among patients who had breast cancer, the most common pathogenic variants included BRCA2, which occurred in 1.29% of case patients, followed by CHEK2, at a prevalence of 1.08%, and BRCA1, at a prevalence of 0.85%.

Mutations in BRCA1 increased the risk for breast cancer more than 7.5-fold; mutations in BRCA2 increased that risk more than fivefold, the investigators state.

Mutations in PALB2 increased the risk of breast cancer approximately fourfold, they add.

Prevalence rates for both BRCA1 and BRCA2 among breast cancer patients declined rapidly after the age of 40. The decline in other variants, including ATM, CHEK2, and PALB2, was limited with increasing age.

Indeed, mutations in all five of these genes were associated with a lifetime absolute risk for breast cancer greater than 20% by the age of 85 among non-Hispanic Whites.

Pathogenic variants in BRCA1 or BRCA2 yielded a lifetime risk for breast cancer of approximately 50%. Mutations in PALB2 yielded a lifetime breast cancer risk of approximately 32%.

The risk of having a mutation in specific genes varied depending on the type of breast cancer. For example, mutations in BARD1, RAD51C, and RAD51d increased the risk for estrogen receptor (ER)negative breast cancer as well as triple-negative breast cancer, the authors note, whereas mutations in ATM, CDH1, and CHEK2 increased the risk for ER-positive breast cancer.

"These refined estimates of the prevalences of pathogenic variants among women with breast cancer in the overall population, as opposed to selected high-risk patients, may inform ongoing discussions regarding testing in patients with breast cancer," the BCAC authors observe.

"The risks of breast cancer associated with pathogenic variants in the genes evaluated in the population-based CARRIERS analysis also provide important information for risk assessment and counselling of women with breast cancer who do not meet high-risk selection criteria," they suggest.

The second study was conducted by the Breast Cancer Association Consortium (BCAC) under lead author Leila Dorling, PhD, University of Cambridge, United Kingdom. This group sequenced 34 susceptibility genes from 60,466 women with breast cancer and 53,461 unaffected control persons.

"Protein-truncating variants in 5 genes (ATM, BRCA1, BRCA2, CHEK2 and PALB2) were associated with a significant risk of breast cancer overall (P < .0001)," the BCAC members report. "For these genes, odds ratios ranged from 2.10 to 10.57," they add.

The association between overall breast cancer risk and mutations in seven other genes was more modest, conferring approximately twice the risk for breast cancer overall, although that risk was threefold higher for the TP53 mutation.

For the 12 genes the consortium singled out as being associated with either a significant or a more modest risk for breast cancer, the effect size did not vary significantly between European and Asian women, the authors note. Again, the risk forER-positive breast cancer was over two times greater for those who had either the ATM or the CHEK2 mutation. Having mutations in BARD1, BRCA1, BRCA1, PALB2, RAD51C, and RAD51D conferred a higher risk for ER-negative disease than for ER-positive disease.

There was also an association between rare missense variants in six genes CHEK2, ATM, TP53, BRCA1, CDH1, and RECQL and overall breast cancer risk, with the clearest evidence being for CHEK2.

"The absolute risk estimates place protein-truncating variants in BRCA1, BRCA2, and PALB2 in the high-risk category and place protein-truncating variants in ATM, BARD1, CHEK2, RAD51CC, and RAD51D in the moderate-risk category," Dorling and colleagues reaffirm.

"These results may guide screening as well as prevention with risk-reducing surgery or medication, in accordance with national guidelines," the authors suggest.

The CARRIERS study was supported by the National Institutes of Health. The study by Dorling and colleagues was supported by the European Union Horizon 2020 research and innovation programs, among others. Narod has disclosed no relevant financial relationships.

New Eng J Med. Published online January 20, 2021. Couch et al, Abstract; BCAC study, Full text; Editorial

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Breast Cancer Gene Mutations Found in 30% of All Women - Medscape

GeneDx launched new tests, including repeat expansion analysis for SCA, Friedreich ataxia, and other common ataxias.

Most types of adult onset hereditary ataxia are caused by nucleotide repeat expansions within the deoxyribonucleic acid (DNA) and are usually identified by specialized testing. The remaining types of hereditary ataxia may be caused by single nucleotide variants (SNVs) and copy number variants (CNVs) that can be identified by sequencing and deletion/duplication testing.

"Individuals with ataxia need more diagnostic testing options for genetic forms of the disease," saidAmanda Lindy, Ph.D., FACMG, Director of Neurogenetics for GeneDx. "Historically, genetic testing for ataxia has been limited, creating a barrier for some individuals to obtain testing. GeneDx's expanded test offerings provide the flexibility of ordering single or multi-gene repeat expansion analyses, concurrently or reflexively, with a phenotypically driven Xpanded panel or an exome. Thus covering the broadest possible differential, delivering more answers to patients and their families, and enabling precision medical management."

"GeneDx has a deep clinical knowledge of the ataxias and related movement disorders, gained from our long history and industry-leading development of neurogenetic testing," saidSean Hofherr, Ph.D., FACMG, Executive Vice President and CLIA Laboratory Director of GeneDx. "Expanding our menu to include adult-onset ataxias, in addition to the existing portfolio for childhood-onset ataxias, underscores GeneDx's commitment to rare disease identification as well as filling an unmet need for patients and providers, alike."

About GeneDx, Inc.GeneDx, Inc. is a global leader in genomics, providing testing to patients and their families from more than 55 countries. Led by its world-renowned clinical genomics program, GeneDx has an acknowledged expertise in rare and ultra-rare genetic disorders, as well as one of the broadest menus of sequencing services available among commercial laboratories. GeneDx offers a suite of additional genetic testing services, including diagnostic testing for hereditary cancers, cardiac, mitochondrial, neurological disorders, prenatal diagnostics and targeted variant testing. GeneDx is a subsidiary of BioReference Laboratories, Inc., a wholly owned subsidiary of OPKO Health, Inc. To learn more, please visitwww.genedx.com.

About OPKO HealthOPKO is a multinational biopharmaceutical and diagnostics company that seeks to establish industry-leading positions in large, rapidly growing markets by leveraging its discovery, development, and commercialization expertise and novel and proprietary technologies. For more information, visitwww.opko.com.

Cautionary Statement Regarding Forward-Looking StatementsThis press release contains "forward-looking statements," as that term is defined under the Private Securities Litigation Reform Act of 1995 (PSLRA), which statements may be identified by words such as "expects," "plans," "projects," "will," "may," "anticipates," "believes," "should," "intends," "estimates," and other words of similar meaning, including statements regarding GeneDx's test offerings and the effectiveness and utility of its ataxias tests, as well as other non-historical statements about our expectations, beliefs or intentions regarding our business, technologies and products, financial condition, strategies or prospects. Many factors could cause our actual activities or results to differ materially from the activities and results anticipated in forward-looking statements. These factors include those described in the OPKO Health, Inc. Annual Reports on Form 10-K filed and to be filed with the Securities and Exchange Commission and in its other filings with the Securities and Exchange Commission. In addition, forward-looking statements may also be adversely affected by equipment and reagent shortages, general market factors, competitive product development, product availability, federal and state regulations and legislation, the regulatory process for new products and indications, manufacturing issues that may arise, patent positions and litigation, among other factors. The forward-looking statements contained in this press release speak only as of the date the statements were made, and we do not undertake any obligation to update forward-looking statements. We intend that all forward-looking statements be subject to the safe-harbor provisions of the PSLRA.

References:

SOURCE GeneDx, Inc.

http://www.genedx.com

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OPKO Health's GeneDx Adds Repeat Expansion Analysis Genetic Tests for Diagnosis of Spinocerebellar Ataxia (SCA), Friedreich Ataxia, and Other Common...

Connecticut has at least eight cases of the more highly contagious strain of the coronavirus, and stateofficials say there are likely more.

But identifying who is infected with the so-called U.K. variant involves sophisticated genetic testing that is both time-consuming and expensive.

Only a handful of labs in Connecticut currently have the ability to screen for the U.K. or other variants, let alone do the genetic testing,said Dr. Jafar Razeq, head of Connecticuts state laboratory.

The U.S. as a whole is lagging behind in these surveillanceefforts, which public health experts say are key to identifying mutations of the virus that could be more highly transmissible, make people more sick or evade vaccines. Experts expect the U.K. variant to bepredominant in the U.S. in March.

The yes/no answer for infection was great throughout 2020. We now need to be able to ask these more sophisticated questions about what exactly is circulating in the state, said Mark Adams,professor and deputy directorat The Jackson Laboratory in Farmington.

Late last year, when newsbegan circulating that a more highly contagious strain ofthevirus was spreading in the U.K, Jackson Lab became one of the only places in Connecticut to start screening positive COVID-19 samples for the U.K. variant.

The labis responsiblefor about 20% to 25% of all COVID-19 tests administered in the state, and is one of few labs that have thetestscapable of screening for the U.K. variant, a process that involves looking for mutations in the virus's genome. Once it identifies those mutations indicating the potential for theU.K. variant, the lab then does genetic testing on the samples to confirm.

The lab has performed genetic testing on 21 positive samples so far,and confirmed only three of them were the U.K. variant, "so it's still quite rare in the state," Adams said. Another batch of samples is being tested, he said.

The lab is in the process of developing a system to more quickly detect if someone hasthe U.K. variant or other mutations of the virus,and that would enable the analysis tobe donefasterand ona wider scale, Adams said.

Razeq said the state lab over the past several weeks has received a portion of the positive samples from other labs in the state that don't have the capability to screen for the U.K. variant. Any samples that meet the"candidacy criteria" are sent toJacksonLab or Yale for genetic testing.

"It's impossible to test every single positive case, so we are trying to test a representative sample coming from different geographical locations around the state," Razeq said.

A portion of the positive samples are being sent to the Centers for Disease Control and Prevention to be analyzed.

Regardlessof whethersomeone has a more contagious strain of the virus, the public healthmessaging is the same, Adams and Razeq said: keep wearing masks, social distancing and washing hands.

"The same mechanisms worked with previous variants and they should work with the current and any new variants," Razeq said."There's no magic solution until we have everybody vaccinated and the vaccine works and we are good to go."

j.bergman@theday.com

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Connecticut has eight cases of U.K. coronavirus variant. Finding others involves sophisticated genetic testing. - theday.com

The recently published report called Direct-to-Consumer Genetic Testing Devices Market 2020 2027 is a fundamental study carried out by the experts with a perspective of the global market. It gets to the details of competing structure of industries worldwide. The report investigates the limits and strong points of the players. The report focuses on analyzing this market on the basis of various market uprights and presents a clear picture of it. This Direct-to-Consumer Genetic Testing Devices Market report aimed to stick to sources whose reputation rests on their objectivity, rather than on excited statements of companies whose incentive is to see the future their way.

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Major Players In The Industry Are: Pathway Genomics, Color Genomics, Counsyl, Inc., deCode genetics, Inc., Map My Gene, and GenePartner.

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Featured Attribute in the Report

Major Points from Table of Contents:

Direct-to-Consumer Genetic Testing Devices Market Research Report 2020-2027, by Manufacturers, Regions, Types and Applications

1 Introduction

1.1 Objective of the Study 1.2 Definition of the Market 1.3 Market Scope 1.3.1 Market Segment by Type, Application and Marketing Channel 1.3.2 Major Regions Covered (North America, Europe, Asia Pacific, Mid East and Africa) 1.4 Years Considered for the Study (2016-2027) 1.5 Currency Considered (U.S. Dollar) 1.6 Stakeholders

2 Key Findings of the Study

3 Market Dynamics

3.1 Driving Factors for this Market 3.2 Factors Challenging the Market 3.3 Opportunities of the Direct-to-Consumer Genetic Testing Devices Market (Regions, Growing/Emerging Downstream Market Analysis) 3.4 Technological and Market Developments in the Direct-to-Consumer Genetic Testing Devices Market 3.5 Industry News by Region 3.6 Regulatory Scenario by Region/Country 3.7 Market Investment Scenario Strategic Recommendations Analysis

4 Value Chain of the Direct-to-Consumer Genetic Testing Devices Market

4.1 Value Chain Status 4.2 Upstream Raw Material Analysis 4.3 Midstream Major Company Analysis (by Manufacturing Base, by Product Type) 4.4 Distributors/Traders 4.5 Downstream Major Customer Analysis (by Region)

5 Direct-to-Consumer Genetic Testing Devices Market-Segmentation by Type

6 Direct-to-Consumer Genetic Testing Devices Market-Segmentation by Application

7 Direct-to-Consumer Genetic Testing Devices Market-Segmentation by Marketing Channel 7.1 Traditional Marketing Channel (Offline) 7.2 Online Channel

8 Competitive Intelligence Company Profiles

9 Direct-to-Consumer Genetic Testing Devices Market-Segmentation by Geography

9.1 North America 9.2 Europe 9.3 Asia-Pacific 9.4 Latin America

9.5 Middle East and Africa

10 Future Forecast of the Direct-to-Consumer Genetic Testing Devices Market from 2020-2027

10.1 Future Forecast of the Direct-to-Consumer Genetic Testing Devices Market from 2020-2027 Segment by Region 10.2 Direct-to-Consumer Genetic Testing Devices Production and Growth Rate Forecast by Type (2020-2027) 10.3 Direct-to-Consumer Genetic Testing Devices Consumption and Growth Rate Forecast by Application (2020-2027)

11 Appendix

11.1 Methodology 12.2 Research Data Source

Continued.

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Direct-to-Consumer Genetic Testing Devices Market by 2027 Report: Opportunities, Vendors, Shares, Industry Growth, and Forecast KSU | The Sentinel...

The Predictive Genetic Testing and Consumer/Wellness Genomics Market report upholds the future market predictions related to Predictive Genetic Testing and Consumer/Wellness Genomics market size, revenue, production, Consumption, gross margin and other substantial factors. It also examines the role of the prominent Predictive Genetic Testing and Consumer/Wellness Genomics market players involved in the industry including their corporate overview. While emphasizing the key driving factors for Predictive Genetic Testing and Consumer/Wellness Genomics market, the report also offers a full study of the future trends and developments of the market.

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For competitor segment, the report includes global key players of Predictive Genetic Testing and Consumer/Wellness Genomics as well as some small players.

The information for each competitor includes:

For product type segment, this report listed main product type of Predictive Genetic Testing And Consumer/Wellness Genomics market

For end use/application segment, this report focuses on the status and outlook for key applications. End users are also listed.

For geography segment, regional supply, application-wise and type-wise demand, major players, price is presented from 2020 to 2028. This report covers following regions:

The key countries in each region are taken into consideration as well, such as United States, China, Japan, India, Korea, ASEAN, Germany, France, UK, Italy, Spain, CIS, and Brazil etc.

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The key questions answered in this report:

Various factors are responsible for the markets growth trajectory, which are studied at length in the report. In addition, the report lists down the restraints that are posing threat to the global Predictive Genetic Testing and Consumer/Wellness Genomics market. It also gauges the bargaining power of suppliers and buyers, threat from new entrants and product substitute, and the degree of competition prevailing in the market. The influence of the latest government guidelines is also analyzed in detail in the report. It studies the Predictive Genetic Testing and Consumer/Wellness Genomics markets trajectory between forecast periods.

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Table of Contents:

Predictive Genetic Testing and Consumer/Wellness Genomics Overview

Impact on Predictive Genetic Testing and Consumer/Wellness Genomics Industry

Predictive Genetic Testing and Consumer/Wellness Genomics Competition

Servo Motors and Drives, Revenue by Region

Predictive Genetic Testing and Consumer/Wellness Genomics Supply, Consumption, Export and Import by Region

Servo Motors and Drives, Revenue, Price Trend by Type

Predictive Genetic Testing and Consumer/Wellness Genomics Analysis by Application

Predictive Genetic Testing and Consumer/Wellness Genomics Cost Analysis

Internal Chain, Sourcing Strategy and Downstream Buyers

Marketing Strategy Analysis, Distributors/Traders

Market Effect Factors Analysis

Predictive Genetic Testing and Consumer/Wellness Genomics Market Forecast (2020-2028)

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Predictive Genetic Testing and Consumer/Wellness Genomics Market Size study, by Product Type, By Application, and Regional Forecasts 2020-2028 and Key...

Global Prenatal and Newborn Genetic Testing Market trends analysis report 2021, the future of the industries is predicted on the basis of the current scenario, income, and growth opportunities. An assortment of graphical introduction systems is utilized to demonstrate the actual facts. In the end, we examine some variables that provide drivers, restraints, opportunities, and challenges for the Prenatal and Newborn Genetic Testing Market.

This report provides a mixture of qualitative and quantitative information including Geographical Growth, Trends, Market Share, Size, Applications, Types, Key Players, Production, Competition by Revenue, Cost Analysis, and Goal Value by important segments.

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Key Market Players: Roche Diagnostic, Elitech Group, Myriad Genetics, Biocartis, IntegraGen, Perkin Elmer, WaferGen Biosystem, Interpace Diagnostics, Quest Diagnostic, Bio-Rad, AutoGenomics, Abbott, Cepheid, EKF Diagnostics, Natera, Agilent Technologies, Illumina, Ariosa Diagnostics, Sequenom

The information for each competitor includes:

Company Profile, SWOT Analysis, Regional Sales Analysis, Revenue Share, Price, Gross Margin

And Production Rate

Market segment by Type, the product can be split intoHospitals

Diagnostic Organization

OtherMarket segment by Application, split intoArray-Comparative Genetic Hybridization (aCGH)

Fluorescence In-Situ Hybridization (FISH)

Polymerase Chain Reaction (PCR)

The report has 150 tables and figures browse the report description and TOC:

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Regional Analysis

Geographically, this report is segmented into several key Regions, with production, consumption, revenue (million USD), and market share and growth rate ofPrenatal and Newborn Genetic Testing Marketthese regions, from 2021 to 2027 (forecast), covering

North America,Europe,China,Japan, Southeast Asia, India, North America (USA, Canada, and Mexico)Europe (Germany, France, UK, Russia, and Italy)Asia-Pacific (China, Japan, Korea, India, and Southeast

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Prenatal and Newborn Genetic Testing Market Report Region wise share, business scope, and demand analysis - The Courier

Tanios S. Bekaii-Saab, MD, discusses genetic testing and emerging precision medicine strategies in the field of colorectal cancer.

Tanios S. Bekaii-Saab, MD, consultant, Division of Hematology/Oncology, Department of Internal Medicine, Mayo Clinic, discusses genetic testing and emerging precision medicine strategies in the field of colorectal cancer (CRC).

As part of the Academic and Community Cancer Research United (ACCRU) research consortium, multiple clinical trials are using genetic information obtained from roughly 6,000 patients with CRC across 16 centers. The study known as COLOMATE utilizes both liquid and tissue biopsy to identify genetic alterations in patients with CRC, say Bekaii-Saab. Other research includes the PULSE study (NCT03992456) of panitumumab (Vectibix), regorafenib (Stivarga), or TAS-102 (Lonsurf) as treatment of patients with metastatic and/or unresectable RAS wild-type disease. Finally, the MOUNTAINEER study (NCT03043313) of tucatinib trastuzumab in patients with HER2-positive disease is also underway as part of ACCRU. Presentations on these studies occurred during the 2021 Gastrointestinal Cancers Symposium.

Outside of these studies, Bekaii-Saab says there are basket trials that coverEGFR-mutated CRC,MET-mutated disease, as well asKRASG12C-mutated disease. The hope is that the landscape continues to expand and CRC will become classified as multiple diseases based on the genetic alterations found in patients.

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Genomics May Reclassify Disease in Patients With Colorectal Cancer - Targeted Oncology

The market research report titled Global Direct-to-Consumer Genetic Testing (DTC-GT) Market: Global Industry Analysis, Size, Share, Growth, Trends, and Forecasts 2020-2026 published by MR Accuracy Reports provides an insightful comprehension about the growth aspects, dynamics, and working of the globalDirect-to-Consumer Genetic Testing (DTC-GT)Market. The report entails details about the market with data collected over the years with its wide-ranging analysis. It also comprises the competitive landscape within the market together with a detailed evaluation of the leading players within the global Direct-to-Consumer Genetic Testing (DTC-GT) Market. In addition, it sheds light on the profiles of the key vendors/manufacturers comprising thorough assessment of the market share, production technology, market entry strategies, revenue forecasts, and so on. Further, the report will encompass the fundamental strategic activities such as product developments, mergers & acquisitions, launches, events, partnerships, collaborations, and so on. Apart from this, it will also present the new entrants contributing their part in the market growth.

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Global Direct-to-Consumer Genetic Testing (DTC-GT) Market: Competitive Players

Family Tree DNA, MyHeritage, EasyDNA, Ancestry.com LLC, 24Genetics, Dante Labs, Atlas Biomed, Genebase, Mapmygenome

The Direct-to-Consumer Genetic Testing (DTC-GT) Market report also entails exhaustive examination of the key factors likely to propel or restrict the expansion of the global Direct-to-Consumer Genetic Testing (DTC-GT) Market during the forecast period in addition to the most recent and promising future trends in the market. Moreover, the report uses SWOT analysis and other methodologies to analyze the numerous segments [Product, Applications, End-Users, and Major Regions] of the global Direct-to-Consumer Genetic Testing (DTC-GT) Market. Furthermore, it comprises valuable understanding about the segments like their growth potential, market share, and developments. It also evaluates the market on the basis of its major geographical regions [Latin America, North America, Asia Pacific, Middle & East Africa, and Europe]. It entails quantitative and qualitative facets of the market in association to each country and region enlisted in the report.

Promising Regions & Countries Mentioned In The Direct-to-Consumer Genetic Testing (DTC-GT) Market Report:

The Direct-to-Consumer Genetic Testing (DTC-GT) Market report also stipulates the computed expected CAGR of the market estimated on the basis of the existing and previous records concerning the global Direct-to-Consumer Genetic Testing (DTC-GT) Market. The report analyzes the market with the aim of being capable to get a clear picture of prevailing and anticipated growth patterns of the market. Furthermore, it entails the impact of numerous federal policies and rules on the growth and dynamics of the market during the forecast period. The thorough assessment put forth by our analysts assist to get more profound acquaintance of global markets and related industries. In addition, the report encompasses various tactics to discover the weaknesses, opportunities, risks, and strengths having the potential to impact the global market expansion.

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Global Direct-to-Consumer Genetic Testing (DTC-GT) Market Size | Incredible Possibilities and Growth Analysis and Forecast To 2026 The Courier - The...

At the molecular level all cancers are genetic, they start as your normal breast cell or ovaries and overtime pick up small genetic changes. When talking about inherited testing or hereditary testing only a small portion of cancer can be passed down in a family. We roughly quote 5-10% can be due to hereditary reasons or something we might find in an inherited genetic test, explained Dr. Tong at the CURE Educated Patient Womens Cancer Summit.

Genetic testing is a critical part of understanding these cancers, as well as how to treat, and Ill be discussing today about how we think about how genetics fits in cancer development, how genetic testing plays a role and how genetic counseling can help induvial and families come to decisions around genetics, says Dr. Tong.

Some exceptions include, up to 20% of negative breast cancers that can be hereditary and up to 25% of ovarian cancers can be hereditary, which is why genetic testing is recommended for all ovarian cancers.

When talking about hereditary cancer Dr. Tong says clinicians and genetic counselors are thinking about if that person has a higher chance of developing cancer, because nobody is at a 0% of developing cancer. Genetic testing will look at to see if they can identify what is elevating the persons risk of developing cancer, and can you potentially explain why a person developed certain cancer.

Part of what we learn from genetic testing, is not only could it have been due to a hereditary cause, such as a mutation in a gene, but which gene mutation and how can we differentially take care of people depending on which gene mutation did cause that, says Dr. Tong.

Guidelines recommend that all women diagnosed with epithelial ovarian cancer and breast cancer should be offered genetic testing.

Beginning in 2015 technology has brought three different types of gene testing or as they call it, Multi-Gene Panel Testing. Then there is a decision about how much genetic testing to do. For genes that they know are associated with inherited risk, those are high and moderate risk genes, they have actionable guidelines for treatment, risk reduction or prevention.

As technology develops you think about if the low-risk genes should also be looked at, the most likely have no impact on your health, such as a recessively inherited cancer risk, the information from these genes may be relevant to your family members or future generations. Some panel offers looking at newly described genes, they have limited evidence that they may impact inherited cancer risk, and they dont have actionable guidelines yet but could in the future.

We think that pretest counseling with a genetic counselor can help an induvial better understand how genetics impacts or plays a role in their cancer diagnosis or in their family history. Genetic counselors will take a look at family history and go many generations to look at distant relatives to see if there is a pattern to the cancers of that family that can be inherited, or does it look more like sporadic risks, then that counselor can discuss what the testing options are, how much testing to have or if its even right for you or not, says Dr. Tong about genetic testing counseling.

Types of results include a negative, the most important to be working with a genetic counselor, meaning there was no change found in the gene, it is considered a normal result and cancer treatment, screening and prevention decisions can be based on personal and family history of cancer. The next is a variant or uncertain significance, also considered a normal result, a change was found but is most likely due to normal human variation. The last result is positive result, where they find a change or genetic mutation that is associated with cancer, cancer treatment, screening and prevention decisions will be based on the risks specific to the change found.

Some may fear that they may be discriminated against due to their genetic testing results. There are laws in place that will protect you and your family members from employment or health insurance discrimination such as the Genetic Information Non-Discrimination Act of 2008, or GINA. In addition, there is the Americans with Disabilities Act, ADA, and the Health Information Portability and Accountability Act, HIPPA. However, there are limitations, how these laws dont protect against other types of discrimination such as life insurance, disability or long-term care, which would be discussed in your genetic counseling session.

Genetic testing can help thinking about what the path forward is for you and your family when we do learn the results, Dr. Tong concludes. He says going to a genetic counselor can help medically keep you healthy and also emotionally, connecting you with different resources and support organizations.

See more here:
What is Genetic Cancer Testing and How Do Patients Get Tested? - Curetoday.com

DUBLIN--(BUSINESS WIRE)--The "Preimplantation Genetic Testing Market - Growth, Trends, and Forecast (2020 - 2025)" report has been added to ResearchAndMarkets.com's offering.

The preimplantation genetic testing market studied was anticipated to grow with a CAGR of 10.5% during the forecast period.

The major factor attributing to the growth of the market is a rising awareness among parents regarding advancements in diagnostics with a huge volume of neonatal deaths due to complications during childbirth. The growing prevalence of congenital genetic diseases like Edwards syndrome, and common pediatric respiratory disorders such as pneumonia, and asthma are observed in recent years.

Key Market Trends

HLA Typing by Application Segment is Expected to Hold the Major Market Share in the Preimplantation Genetic Testing Market

The HLA typing by application segment is expected to account for the largest held the largest of the pre-implantation genetic testing market. Dominance can be owing to a rising volume of patients with damaged bone marrow or defective immune system. This results in an increased volume of hematopoietic stem cell transplantations (HSCT), necessitating the tests. Also, their increased application in evaluating interconnected matched donors and unrelated donors for safer HSCT is expected to drive the growth of the segment.

On the other hand, inherited genetic disease testing is anticipated to witness the highest CAGR during the forecast period. The lucrative growth can be due to their ability to detect diseases in offspring and increased awareness among the public about the inheritance of these diseases by future generations. Furthermore, steep rising incidences of inherited genetic diseases, such as Marfan syndrome, cystic fibrosis, fragile X syndrome hemoglobin disorders, and others, are driving the growth of the segment.

North America Dominates the Market and it is Expected to do the Same in the Forecast Period

North America is expected to dominate the pre-implantation genetic testing market. The dominance is owing to a growing volume of chromosome abnormality cases leading to various genetic disorders. Aneuploidy is the most common causing Down syndrome among newborn babies in the united states, which holds the major revenue share in the North American market. According to the World Health Organization report published in 2018, down syndrome continues to be the most common chromosomal disorder affecting 6,000 babies born in the United States each year.

This, in turn, resulted in high demand for earlier diagnosis to identify the genetic defects in embryos drive the market in the region. Launch of new products by key players and a rise in improvements in healthcare infrastructure in the United States generates more revenue. Rise in government initiatives to create awareness in public and growing preference among couples for these tests during IVF and other artificial insemination procedures further stimulate the growth of the preimplantation genetic testing market in the region.

Competitive Landscape

The preimplantation genetic testing market is moderately competitive and consists of several major players. Few of the key players dominating the market are following various strategies like an increased focus on R&D and the launch of new products. In October 2019, PerkinElmer launched PG-Seq Rapid Non-Invasive Pre-implantation Genetic Testing Kit for Aneuploidy (PGT-A). It is a non-invasive alternative to conventional IVF embryo biopsies, which is expected to impact the market positively. Some of the major companies currently dominating the market are The Cooper Companies Inc., Illumina Inc., Thermo Fisher Scientific Inc., PerkinElmer Inc., and Bioarray SL.

Key Topics Covered:

1 INTRODUCTION

2 RESEARCH METHODOLOGY

3 EXECUTIVE SUMMARY

4 MARKET DYNAMICS

4.1 Market Overview

4.2 Market Drivers

4.2.1 Increasing Burden of Genetic Diseases Like Patau Syndrome, Edwards Syndrome, and Down Syndrome

4.2.2 Increased Government Initiatives to Create Awareness and R&D Activities to Develop Advanced Diagnostic Devices

4.3 Market Restraints

4.3.1 Small Size of Study Population and Ethical Concerns

4.3.2 Highly Expensive Testing Procedures

4.3.3 Unfavorable Regulatory Framework and Challenges During Development Stage

4.4 Porter's Five Forces Analysis

5 MARKET SEGMENTATION

5.1 Test Type

5.1.1 Preimplantation Genetic Diagnosis (PGD)

5.1.2 Preimplantation Genetic Screening (PGS)

5.2 Product and Service

5.2.1 Instruments

5.2.2 Reagents and Consumables

5.2.3 Software and Services

5.3 Application

5.3.1 HLA Typing

5.3.2 IVF Prognosis

5.3.3 Aneuploidy Screening

5.3.4 Other Applications

5.4 End User

5.4.1 Hospitals and Diagnostic Labs

5.4.2 Maternity Centers and Fertility Clinics

5.4.3 Other End Users

5.5 Geography

6 COMPETITIVE LANDSCAPE

6.1 Company Profiles

6.1.1 The Cooper Companies Inc.

6.1.2 Illumina Inc.

6.1.3 Thermo Fisher Scientific Inc.

6.1.4 Quest Diagnostics Inc.

6.1.5 PerkinElmer Inc.

6.1.6 Invitae Corp.

6.1.7 Natera Inc.

6.1.8 Igenomix Sl

6.1.9 Bioarray SL

6.1.10 Genea Ltd

7 MARKET OPPORTUNITIES AND FUTURE TRENDS

For more information about this report visit https://www.researchandmarkets.com/r/vq1deh

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Preimplantation Genetic Testing Market - Global Growth, Trends, and Forecast to 2025: Major Players are The Cooper Companies, Illumina, Thermo Fisher...

Germline testing (GT) is increasingly impacting prostate cancer (PCa) management and screening, with direct effects in urology, medical oncology, and radiation oncology. The majority of testing indications and recommendations center on men with metastatic disease, although guidelines now encompass newly diagnosed, early-stage PCa and entail assessment of personal history, pathologic features, and family history to determine eligibility for testing.

To describe current guidelines on GT for men with PCa and the impact on management. An additional objective was to review the literature on current uptake of GT across practice settings.

A nonsystematic review was performed of current guidelines on GT in PCa from professional societies and consensus conferences, detailing supporting evidence for these recommendations. This was supplemented by a literature review of uptake of GT and precision medicine in practice.

Multiple guidelines and consensus panels recommend GT for men with metastatic PCa. Guidelines endorse BRCA2 testing in metastatic PCa because of strong evidence for PCa risk, aggressiveness, and PARP inhibitor candidacy. Testing of additional DNA repair genes in metastatic disease is also endorsed across guidelines. Immunotherapy with pembrolizumab is an option in some guidelines for men with DNA mismatch repair deficiency. In localized disease, GT is recommended on the basis of histologic features and family history; criteria vary between guidelines. GT for localized disease informs hereditary cancer risk and will probably impact future PCa management. Practice gaps exist regarding utilization of GT.

Germline evaluation is increasingly important in the management of men with metastatic PCa and may also affect the prognosis for men with localized disease. The presence of germline mutations has important hereditary cancer implications for men and their families. Uptake of germline evaluation may be underutilized in some practice settings, so strategies for optimization are required.

Patients with prostate cancer should talk to their doctor about the pros and cons of genetic testing, with attention to family history and cancer features. Genetic testing can have important implications for treatment, cancer screening, and family cancer risk.

European urology oncology. 2020 Dec 31 [Epub ahead of print]

Stacy Loeb, Veda N Giri

Department of Urology and Population Health, New York University and Manhattan Veterans Affairs, New York, NY, USA., Cancer Risk Assessment and Clinical Cancer Genetics, Departments of Medical Oncology, Cancer Biology, and Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address: .

PubMed http://www.ncbi.nlm.nih.gov/pubmed/33390340

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Clinical Implications of Germline Testing in Newly Diagnosed Prostate Cancer. - UroToday

Every drug, from morphine to ibuprofen, has a standard dose -- a sort of one-size-fits all recommendation. But a new study suggests that when it comes to drug doses, "one size fits all" rarely applies.

Stanford Medicine professor Russ Altman, MD, PhD, and a team of scientists found that almost everyone (99.5% of individuals) is likely to have an abnormal or "atypical" response to at least one therapeutic drug. This, at least, is the case for people in the United Kingdom, as the study's data came from the UK Biobank, a project that collects, studies and shares data.

The research found that nearly a quarter of the study's participants had been prescribed a drug for which they were predicted to have an atypical response, based on their genetic makeup. On average, participants were predicted to have an atypical response to 10 drugs.

"Ultimately, the hope is that we can show how pervasive drug response variability is and encourage more doctors to rethink the standard prescription protocols that are largely used today and use genetic testing to predict and adjust forthis variability," said Altman, who is an expert in pharmacogenetics, a field that studies the intersection of drugs and genetics.

An "atypical" drug response encompasses a lot of things; but generally speaking, it means a certain drug might not affect one person the way it does another.

For instance, someone who has an atypical metabolic response might process that drug more efficiently, strengthening its initial effects but decreasing its efficacy over time. On the flip side, it could mean that that person is unable to metabolize the drug at all, leaving them without therapeutic aid, or even with dangerous side effects.

These differences in response to a drug are partially due to our genetics. Specific proteins -- workhorse molecules in the body -- break down drugs in order for the body to benefit from the therapeutic. Those proteins are regulated by a specific group of genes. Natural variation in those genes leads to differences in how an individual's body reacts to a given drug molecule.

Altman and his team, including graduate students and first authors of the study Greg McInnes and Adam Lavertu, analyzed data from nearly 500,000 participants.

For 230,000 participants in the study, the team had primary care data going back about 30 years. That includes which drugs had been prescribed, the dose, and all of the patient's different diagnoses. The researchers also had access to detailed genetic information about each patient. They paid special attention to genetic variations in a group of genes that are known to influence the human drug response.

By comparing an individual's genetics against the variations known to exist in the group of drug-response-associated genes, the researchers could predict how any given patient might respond to a drug.

"Pharmacogenetics as a field has been around for a long time, but it hasn't really been adopted into clinical use," McInnes told me. "It's been growing in the last few years as more people realize the impact that it could have on personalized health. For a long time, it's been this overlooked aspect of genetics that I think is actually one of the most clinically actionable advances that has come out of human genetics."

What's more, he said, the wide variability in the human drug response applies to common therapeutics most everyone has encountered or is familiar with -- ibuprofen, codeine, statins and beta blockers among others.

Moving forward, Lavertu says that the goal is to expand drug-gene variant interaction analyses into more diverse populations. The data from the UK Biobank provided critical insight, but it was largely only representative of a British population, where the majority shares European ancestry. A next step for the researchers is to investigate the same genes in the Million Veteran Program, a government research program with a more diverse study population, that is examining how genes, lifestyle and military exposures affect health and illness.

"Our hope is that doing more of these studies will help us find new relationships between genetic variants and drug response, so that pharmacogenetics can benefit more people," Lavertu said.

Photo byMicha Parzuchowski

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Based on genes, nearly everyone is likely to have an atypical response to at least one drug - Scope