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Archive for the ‘Genetic Testing’ Category

Animal Genetic Market 2020: Industry Analysis and Detailed Profiles of Top Industry Players 3w Market News Reports – 3rd Watch News

Global Animal Genetic 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 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.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

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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

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By Genetic Testing Services

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Animal Genetic Market 2020: Industry Analysis and Detailed Profiles of Top Industry Players 3w Market News Reports - 3rd Watch News

The Answer to a COVID-19 Vaccine May Lie in Our Genes, But … – Scientific American

The coronavirus, as we all know, has brought our economy to its knees. As the search for vaccines and treatments accelerates, geneticists are now looking to our genes to understand why some recover quickly or show no symptoms, while others die. To do so, they are searching DNA databases and cross-referencing them with COVID-19 cases. This research holds great promise for addressing the pandemic.

Yet if scientists do find answers in our genes, we need to consider the implications for genetic privacy. Armed with the ability to identify who is vulnerable and who is not, how will society proceed?

On the one hand, health care providers could use genetic testing to help vulnerable patients stay safe. But there would also be a temptation to use genetic testing in the workplace. Companies could use genetic test results to manage the risks for all employees, for example by controlling the activities of those who are most vulnerable. Businesses will also see opportunities to use genetic test results in the marketplace, for example by tailoring insurance offerings according to genetic risk. Currently, there are some limited legal protections against genetic discrimination and health privacy intrusions, but the pandemic has already led the federal government toscale backsome of those protections for the time being.

Although the rationale for expanded genetic testing is obviously meant for the greater good, such testing could also bring with it a host of privacy and economic harms. In the past, genetic testing has also been associated with employment discrimination. Even before the current crisis, companies like 23andMe and Ancestry assembled and started operating their own private long-term large-scale databases of U.S. citizens genetic and health data. 23andMe and Ancestry recently announced they would use their databases to identify genetic factors that predict COVID-19 susceptibility.

Other companies are growing similar databases, for a range of purposes. And the NIHs AllofUs program is constructing a genetic database, owned by the federal government, in which data from one million people will be used to study various diseases. These new developments indicate an urgent need for appropriate genetic data governance.

Leaders from the biomedical research community recently proposed a voluntary code of conduct for organizations constructing and sharing genetic databases. We believe that the public has a right to understand the risks of genetic databases and a right to have a say in how those databases will be governed. To ascertain public expectations about genetic data governance, we surveyed over two thousand (n=2,020) individuals who altogether are representative of the general U.S. population. After educating respondents about the key benefits and risks associated with DNA databasesusing information from recent mainstream news reportswe asked how willing they would be to provide their DNA data for such a database.

The results were surprising. Initially, we believed people would generally approve of donating their genetic data for altruistic reasons, such as for example, finding a vaccine for COVID-19, so we assumed they would be more willing to provide their data to a hospital or university compared with a tech company or pharmaceutical firm. But we found a fairly similar level of willingnessregardless of who owns the database. While 37 percent were unwilling to provide their DNA data to a technology company (like 23andMe), about the same percent were unwilling to provide it to a hospital (40 percent), a government health institute (37 percent), a pharmaceutical firm (40 percent) or a university (35 percent).

The most important thing our survey revealed was that the willingness of individuals to provide their genetic data depended greatly on the kinds of policies that would govern that data. Thus, in order to find a vaccine for COVID-19, we must have genetic data governance policies that inspire confidence and that will prompt the public to donate their genetic data. Willingness to provide genetic data increased the most when people were told they would have the ability to control how their stored data is reused or shared in the future. This willingness also increased when people were assured they could have their data deleted at any point.

Conversely, one of the policies that reduced willingness to contribute the most was the retention of data indefinitely without a specified date for destruction. These patterns held equally among people who were willing to provide their data as an altruistic donation and people who were only willing to provide their data in exchange for payment of some kind. The patterns also held regardless of the type of organization the respondent was being asked about, that is whether tech company, hospital, government, pharmaceutical firm or university.

Not surprisingly, we also found that willingness to provide genetic data increased greatly when contributors knew that the organization would be using state-of-the-art cybersecurity to protect their data.

Together, these findings indicate two principles to guide needed regulation and any code of conduct for genetic databases.

The first is personal agency and control. People want to know that they can control the end uses of their DNA data. This principle puts the burden on database owners to obtain additional permissions when they want to reuse or share data. It also means designing databases so each entry has an expiration date and can be selectively removed. Technologies exist to support this principle, and some organizations are using them.

The second is equal treatment of all organizations. The same rules should apply regardless of an organizations sector (e.g., for-profit, nonprofit, government); industry (health care, technology, consumer/lifestyle and so on); or size. Such distinctions make little sense in an era when data are routinely moved, shared and reused across organizations, sectors and industriesoftenwithout the full understanding of the peopleincluded in the data.

How can these principles be integrated with existing law and regulation? One approach would be to treat genetic sequence data as personal health information under HIPAA. This is consistent with the current understanding that genetic data can neither be truly de-identified nor completely stripped of sensitive informational content. Organizational policies for data access and cybersecurity can then follow health sector guidelines at a minimum.

Naturally, when biomedical researchers think about rules for genetic information databases, they want to avoid excessive limits on using the data. After all, such limits may slow scientific progress and reduce the societal benefits of the databases. But as suggested by the recent consumer genetics slowdown, without appropriate rules in place, the public may become wary of participating. Thus, it is imperative to consider public opinion of genetic data collection, the safeguarding of the data, and the use of DNA databases.

Our research suggestsour proposed principles for genetic database governance will help preserve the publics willingness to contribute their genetic informationwhich may be our only hope of defeating the coronavirus.

The authors are co-principal investigators on a grant by the Robert Wood Johnson Foundation to research the governance of genetic testing as part of corporate wellness programs. Their article Evolving public views on the value of ones DNA and expectations for genomic database governance: Results from a national survey, co-authored with Allison Gaddis and Jennifer McCormick, was published by PLOS ONE.

Read more about the coronavirus outbreak from Scientific American here, and read coverage from our international network of magazines here.

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The Answer to a COVID-19 Vaccine May Lie in Our Genes, But ... - Scientific American

Foundation Fighting Blindness Launches Upgraded My Retina Tracker Registry for People with Inherited Retinal Diseases (IRDs) – Herald-Mail Media

COLUMBIA, Md., May 15, 2020 /PRNewswire/ -- The Foundation Fighting Blindness, the world's leading organization searching for treatments and cures for inherited retinal diseases, has introduced many improvements and upgrades to its My Retina Tracker Registry. Overall, the upgraded platform makes this best-in-class patient database even easier to use for patients, industry, and investigators who access de-identified data for research studies and clinical trial recruitment. Launched in 2013, more than 15,500 IRD patients are active in the Registry. The patient-driven registry is accessible at

"The My Retina Tracker Registry has been an invaluable resource for both IRD patients and research communities. It provides a secure venue for patients to get on the radar screens of therapy developers both industry and researcher partners who are recruiting for clinical trials and conducting studies using human data," says Brian Mansfield, PhD, executive vice president of research and interim chief scientific officer. "From the start, we have been strongly committed to security of privacy coupled with ease-of-use for both patients and professionals. These enhancements are part of our continual process to maximize the registry's usability and efficiently integrate it with our genetic testing programs."

Highlights of upgrades and enhancements:

The Foundation also offers no-cost genetic testing for those affected with IRDs. The Open Access Genetic Testing Program, allows for any eye care professional in the U.S. to order the no-cost test along with a no-cost genetic counseling session for their IRD patients. Neither membership to My Retina Tracker Registry, nor clinician pre-approval, is needed to participate in the Open Access Genetic Testing Program and receive free testing and genetic counseling.

If a person who is tested chooses to join My Retina Tracker Registry, their data is automatically uploaded into their profile from the genetic testing laboratory.

Current sponsors of the new My Retina Tracker Registry include: The George Gund Foundation, Eloxx Pharmaceuticals, Sofia Sees Hope, AGTC and MeiraGTx. Sponsors of the Open Access Genetic Testing Program include: ProQR, Blueprint Genetics, InformedDNA, Sophia Sees Hope, and The George Gund Foundation.

About the Foundation Fighting BlindnessEstablished in 1971, the Foundation Fighting Blindness is the world's leading private funding source for retinal degenerative disease research. The Foundation has raised more than $760 million toward its mission of accelerating research for preventing, treating, and curing blindness caused by the entire spectrum of retinal degenerative diseases including: retinitis pigmentosa, age-related macular degeneration, Usher syndrome, and Stargardt disease. VisitFightingBlindness.orgfor more information.

Media Contact:Chris AdamsVice President, Marketing & Communicationscadams@fightingblindness.org410-423-0585

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Foundation Fighting Blindness Launches Upgraded My Retina Tracker Registry for People with Inherited Retinal Diseases (IRDs) - Herald-Mail Media

Actress Courteney Cox Says MTHFR Gene Mutation Made Pregnancy Difficult The Importance Of Genetic Testing To Detect Cancer Risk – SurvivorNet

In the season premiere of actressCourteney Coxs Facebook Watch Series Nine Months WithCourteney Cox, she opens up about her experience discovering she had aMTHFR gene mutation. Not only does this mutation make pregnancy difficult, but it also increases risk of types of cancer which is why genetic testing is crucial for everyone.

In her Facebook Watch stream, Cox, 55, revealed that she had suffered miscarriages in the past and four years ago discovered that it was due toMTHFR gene mutation. According to a study from theNational Center for Biotechnology Information (NCBI), this gene mutation also increases the risk of breast cancer as well as ovarian cancer. Additionally, Coxs father, Richard Lewis Cox, passed away after battling cancer in 2001.

Related:Sadness Is Not Always A Bad Thing Coping After Losing A Parent To Cancer

About four years ago, I found out I have something called a MTHFR gene mutation, which dictates how my body methylates, Cox explained in the video. I suffered miscarriages, my dad died of a really rare cancer, and depression runs in my family, which made my doctor think I should get this gene checked out. I discovered that I have the worst version of the mutation and my body doesnt methylate the way its supposed to.

For many people, genetic testing is a crucial step in understanding whether youre more or less at risk for a cancer diagnosis. Some specific gene mutations are directly linked to types of cancers, and by going through genetic testing, doctors will be able to identify these mutations in people. This is especially the case when it comes to ovarian cancer, which is linked toBRCA-1 and BRCA-2 gene defects.

Dr. Kellie Schneider explains why genetic testing is important to detect ovarian cancer

Genetic testing is important for several different reasons,Dr.Kellie Schneider, a gynecologic oncologist at Novant Health in Charlotte, North Carolina, tells SurvivorNet. Ovarian cancer is a relatively rare cancer so when we see it in a patient we worry theres something that put them genetically at risk for that cancer.We would want to know for their sake and their familys sake if we need to be screening for any additional cancers once they are in remission from their ovarian cancer.

Related: Ovarian Cancer: Understanding the Different Categories of Genetic Testing- What You Got From Your Parents & Whats Changed Since You Were Born

Genetic testing cannot only help a possible patient, but also their family members. Breast cancer survivor Amy Armstrong talked to SurvivorNet about why she got genetically tested for stomach cancer, which runs in her family.

[My mom] uncovered that she had a very rare stomach cancer gene called CDH1, Amy said. If you have this gene, not only is it incredibly rare, but youre also confronted [with] making a pretty big decision to avoid getting stomach cancer. You have to have a prophylactic gastrectomy. When my mom found out that she had the gene, it had a domino effect for not only her siblings to be tested for the gene, but also her children and 3 out of 4 of us, my siblings, tested positive for the gene.

According to Armstrong, CDH1 is a dominant gene so theres a 50/50 chance of passing it on to a child. In order to avoid passing this gene to her family, she underwent a prophylactic gastrectomy (stomach removal) to reduce her chance of getting cancer.

Breast cancer survivor Amy Armstrong shares why she went through genetic testing

Learn more about SurvivorNet's rigorous medical review process.

In the season premiere of actressCourteney Coxs Facebook Watch Series Nine Months WithCourteney Cox, she opens up about her experience discovering she had aMTHFR gene mutation. Not only does this mutation make pregnancy difficult, but it also increases risk of types of cancer which is why genetic testing is crucial for everyone.

In her Facebook Watch stream, Cox, 55, revealed that she had suffered miscarriages in the past and four years ago discovered that it was due toMTHFR gene mutation. According to a study from theNational Center for Biotechnology Information (NCBI), this gene mutation also increases the risk of breast cancer as well as ovarian cancer. Additionally, Coxs father, Richard Lewis Cox, passed away after battling cancer in 2001.

About four years ago, I found out I have something called a MTHFR gene mutation, which dictates how my body methylates, Cox explained in the video. I suffered miscarriages, my dad died of a really rare cancer, and depression runs in my family, which made my doctor think I should get this gene checked out. I discovered that I have the worst version of the mutation and my body doesnt methylate the way its supposed to.

For many people, genetic testing is a crucial step in understanding whether youre more or less at risk for a cancer diagnosis. Some specific gene mutations are directly linked to types of cancers, and by going through genetic testing, doctors will be able to identify these mutations in people. This is especially the case when it comes to ovarian cancer, which is linked toBRCA-1 and BRCA-2 gene defects.

Dr. Kellie Schneider explains why genetic testing is important to detect ovarian cancer

Genetic testing is important for several different reasons,Dr.Kellie Schneider, a gynecologic oncologist at Novant Health in Charlotte, North Carolina, tells SurvivorNet. Ovarian cancer is a relatively rare cancer so when we see it in a patient we worry theres something that put them genetically at risk for that cancer.We would want to know for their sake and their familys sake if we need to be screening for any additional cancers once they are in remission from their ovarian cancer.

Related: Ovarian Cancer: Understanding the Different Categories of Genetic Testing- What You Got From Your Parents & Whats Changed Since You Were Born

Genetic testing cannot only help a possible patient, but also their family members. Breast cancer survivor Amy Armstrong talked to SurvivorNet about why she got genetically tested for stomach cancer, which runs in her family.

[My mom] uncovered that she had a very rare stomach cancer gene called CDH1, Amy said. If you have this gene, not only is it incredibly rare, but youre also confronted [with] making a pretty big decision to avoid getting stomach cancer. You have to have a prophylactic gastrectomy. When my mom found out that she had the gene, it had a domino effect for not only her siblings to be tested for the gene, but also her children and 3 out of 4 of us, my siblings, tested positive for the gene.

According to Armstrong, CDH1 is a dominant gene so theres a 50/50 chance of passing it on to a child. In order to avoid passing this gene to her family, she underwent a prophylactic gastrectomy (stomach removal) to reduce her chance of getting cancer.

Breast cancer survivor Amy Armstrong shares why she went through genetic testing

Learn more about SurvivorNet's rigorous medical review process.

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Actress Courteney Cox Says MTHFR Gene Mutation Made Pregnancy Difficult The Importance Of Genetic Testing To Detect Cancer Risk - SurvivorNet

Global Genetic Testing Devices Market Outlook, Opportunities, Key Players, Growth, Competitive Landscape, Trends and Forecast by 2026 – Cole of Duty

A recent market intelligence study on the Genetic Testing Devices market2020incorporates proprietary techniques and assessment tools to screen the Genetic Testing Devices market for the forecast period, 2020-2026. Additionally, valuable insights pertaining to the market size, share and growth rate of Genetic Testing Devices market offers a greater chance of success for all business owners, products, and new technology.

Major Genetic Testing Devices market players covered by this research report are:

Myriad GeneticsCepheidLuminexSeegeneBioRad LaboratoriesWaferGen BiosystemsIntegraGenBioMerieuxInterpace DiagnosticsQiagenElitechElitechAbbott LaboratoriesBiocartisPerkinElmerRoche DiagnosticsEKF DiagnosticsQuest Diagnostics

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Incorporated with Info-graphics, charts, tables and figures, this research report Genetic Testing Devices Market Size, Type Analysis, Application Analysis, End-Use Industry Analysis, Regional Outlook, Competitive Strategies And Forecasts, 2020- 2026is based on a wide-ranging research of the entire Global market and covering all its sub-segments through comprehensively thorough classifications. Insightful analysis and valuation are created from superior primary and secondary information sources with data and information derived from industry specialists across the value chain. The report provides historical market data for 2015-2019, base year estimates for 2020, and forecasts from 2020 to 2026.

Research Methodology:

The research report provides trustworthy primary and secondary research. It also depends on the most recent analysis techniques to organize extremely detailed and accurate research studies such as this Genetic Testing Devices Market. It uses data triangulation, top-down and bottom-up approaches, and advanced Genetic Testing Devices Market research processes to come out with comprehensive and industry-best market research reports.

Classification by Type is as follows:

Type 1Type 2Type 3

Classification by Application is as follows:

Application 1Application 2Application 3

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Genetic Testing Devices Market 2020 Dynamics:

Drivers:(Developing regions and growing markets)

Boundaries:(Regional, Key Player facing Issues, Future Barriers for growth)

Opportunities:(Regional, Growth Rate, Competitive, Consumption)

Regional Segmentation:

TOC of Genetic Testing Devices Market 2020 Report Includes:

View Report TOC In detail @,-competitive-landscape,-trends-and-opportunities/28940 #table_of_contents

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Global Genetic Testing Devices Market Outlook, Opportunities, Key Players, Growth, Competitive Landscape, Trends and Forecast by 2026 - Cole of Duty

Precision medicine guides choice of better drug therapy in severe heart disease – Science Codex

BIRMINGHAM, Ala. - Is personalized medicine cost-effective? University of Alabama at Birmingham researcher Nita Limdi, Pharm.D., Ph.D., and colleagues across the United States have answered that question for one medical treatment.

Patients experiencing a heart attack -- known as a myocardial infarction or an acute coronary syndrome -- have sharply diminished blood flow in coronary arteries, with a high risk of heart failure or death. Coronary angioplasty, a procedure to open narrowed or blocked arteries in the heart, and percutaneous coronary intervention, known as PCI or stenting, can restore blood flow to minimize damage to the heart. These procedures reduce the risk of subsequent major adverse cardiovascular events, or MACE, which include heart attacks, strokes or death.

But then, a treatment decision has to be made.

After stenting, all patients are treated with two antiplatelet agents for up to one year. Which combination of antiplatelets is best? The answer comes through pharmacogenomics, says Limdi, a professor in the UAB Department of Neurology and associate director of UAB's Hugh Kaul Precision Medicine Institute.

Pharmacogenomics combines pharmacology, the study of drug action, with genetics, the study of gene function, to choose the best medication according to each patient's personal genetic makeup. This is also called precision medicine -- tailored medical treatment for each individual patient.

The most commonly used antiplatelet combination after PCI is aspirin and clopidogrel, which is trademarked as Plavix. Clopidogrel is converted to its active form by an enzyme called CYP2C19. However, patients respond to clopidogrel differently based on their genetic makeup.

More than 30 percent of people have loss-of-function variants in the CYP2C19 gene that decrease the effectiveness of clopidogrel. The FDA warns that these patients may not get the full benefit of clopidogrel, which would increase the risk of MACE. So the FDA advises doctors to consider a different treatment such as prasugrel or ticagrelor, trademarked as Effient and Brillinta, to replace clopidogrel.

While most patients undergoing PCI receive clopidogrel without receiving any CYP2C19 loss-of-function testing, academic institutions like UAB that offer precision medicine use pharmacogenomics to guide the selection of medication dosing.

In 2018, Limdi and other investigators across nine United States universities -- all members of the Implementing Genomics in Practice consortium, or IGNITE -- showed that patients with loss-of-function variants who were treated with clopidogrel had elevated risks. There was a twofold increase in MACE risk for PCI patients, and a threefold increase in MACE risk among patients with acute coronary syndrome who received PCI, as compared to patients prescribed with prasugrel or ticagrelor instead of clopidogrel. Prasugrel and ticagrelor are not influenced by the loss-of-function variant and can substitute for clopidogrel, but they are much more costly and bring a higher risk of bleeding.

The IGNITE group then leveraged this real-world data to conduct an economic analysis to determine the best drug treatment for these heart disease patients.

A study led by Limdi and colleagues, published in the Pharmacogenomics Journal, examines the cost-effectiveness of genotype-guided antiplatelet therapy for acute coronary syndrome patients with PCI. This cost-effectiveness study is the first to use real-world clinical data; many cost-effectiveness studies use clinical trial data, which tends to exclude the sicker patients normally seen in clinical practice.

The study compared three main strategies: 1) treating all patients with clopidogrel, 2) treating all patients with ticagrelor, or 3) genotyping all patients and using ticagrelor in those with loss-of-function variants.

"We showed that tailoring antiplatelet selection based on genotype is a cost-effective strategy," Limdi said. "Support is now growing to change the clinical guidelines, which currently do not recommend genotyping in all cases. Evidence like this is needed to advance the field of precision medicine."

Costs, QALYs and ICERs

In the analysis, Limdi and colleagues considered differences in event rates for heart attacks and stent thrombosis in patients receiving clopidogrel versus ticagrelor versus genotype-guided therapy, during the one-year period following stenting. They also included medical costs from those events that are borne by the payer, such as admissions, procedures, medications, clinical visits and genetic testing. The analysis considered variations in event rates and medication costs over time to ensure that the results held under different scenarios.

The study uses an economic measure -- the QALY, which stands for the quality-adjusted life year.

"First, we looked at which strategy provided the highest QALY," Limdi said. "The QALY is the gold standard for measuring benefit of an intervention -- in our case, genotype-guided treatment compared to treatment without genotyping. Universal ticagrelor and genotype-guided antiplatelet therapy had higher QALYs than universal clopidogrel -- so those are the best for the patient."

But health care resources are not infinite. So, Limdi and colleagues then evaluated whether those interventions that have higher QALYs were also reasonable from a cost perspective. This analysis considered the willingness to pay. What would a payor or a patient pay for the highest QALY?

"In our case, the payor would recognize that ticagrelor is more expensive than clopidogrel -- $360 per month vs. $10 per month -- and there is a $100 cost for each genetic test," Limdi said. "So, from the payor perspective, the more effective strategy (one with a higher QALY) -- if more expensive (higher cost) -- would have to lower the risks of bad outcomes like heart attacks and strokes for the gains in QALY that are at, or below, the willingness-to-pay threshold."

A calculation called incremental cost-effectiveness ratios, or ICERs, assesses the incremental cost of the benefit (improvement in QALY). In the United States, a treatment is considered cost-effective if its associated ICER is at or below the willingness-to-pay threshold of $100,000 per QALY.

"In our assessment, the two strategies with the highest QALY had very different ICERs," Limdi said. "The genotype-guided strategy was cost-effective at $42,365 per QALY. Universal ticagrelor was not; it had an ICER of $227,044 per QALY."

The researchers also looked at some secondary strategies for a real-world reason. A number of clinicians now prescribe ticagrelor or prasugrel for the first 30 days after PCI, which is considered a period of greater risk, and then switch their patients to the less expensive drug clopidogrel.

The secondary analysis allowed Limdi and colleagues to explore the cost-effectiveness of giving all patients ticagrelor for 30 days, and then switching them to clopidogrel, without genetic testing, versus switching the patients based on genotype. Both strategies were better -- in terms of QALYs -- than a universal switch to clopidogrel at 30 days. However, neither of the two appeared to be cost-effective. Because these secondary strategies used estimated parameters, "the findings should only be considered as hypothesis-generating," Limdi said.

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Precision medicine guides choice of better drug therapy in severe heart disease - Science Codex

These Large Carnivorous Lizards Are Right Where They Belong – The New York Times

You cant accuse a monitor lizard of being a picky eater.

The carnivorous, fork-tongued reptiles feed on insects, spiders, bird eggs, mollusks, crabs, fish, amphibians and rodents dead or alive. Deer represent a large portion of the diets of the Komodo dragon, the largest monitor lizard species, which is native to eastern Indonesia.

Theyll feed at garbage piles and eat chicken bones. Whatevers available, said Fred Kraus, an evolutionary biologist at the University of Michigan. They probably would take puppies too, if they get them.

Monitor lizards have been found living on the most far-flung islands of Micronesia in the Pacific Ocean. For decades, people assumed humans dropped off these unfussy carnivores, turning them into especially threatening ecological invaders. But a study published Wednesday in Royal Society Open Science refutes this presumption, demonstrating that the monitor lizards of Palau, the Western Caroline Islands and the Mariana Islands are previously undescribed species native to those islands.

The team of scientists argues that the lizards likely rode ocean currents up to 1,500 miles in some cases, from Indonesia northeastward, where they naturally colonized these Pacific islands hundreds of thousands of years ago.

Some of those islands are so remote. Its pretty difficult to explain how they got there, said Valter Weijola, a biologist at Finlands University of Turku and lead author of the study. But his teams research shows they made this ocean crossing without help from humans. And since their disembarkment, theyve evolved into two distinct species.

Researchers examined more than 50 Micronesian monitor lizard specimens from museums around the world. First, they compared physical characteristics, measuring and noting details like body proportions, scale pattern and tongue color.

Then they ran molecular tests on tissue samples. DNA sequencing and analysis revealed two Micronesian species were genetically distinct from other known monitor lizards in the Asia-Pacific region. It also suggested each evolved in geographic and genetic isolation long before any humans arrived in Micronesia.

Used this way, DNA analysis can be a bit like looking at an ecological question through a microscope and a telescope simultaneously.

It takes you back in time and allows you to see things in greater detail, said Julie Lockwood, a Rutgers University ecologist and invasive species biologist who was not involved in the study.

That the islands included in the study have never been in contact with any continental landmass, nor with each other, indicates the lizards must have arrived overseas, perhaps on a raft of vegetation.

Theyre predisposed to being swept out to sea, Dr. Kraus said. They can survive a good while, riding that current.

It is possible that humans, particularly German and Japanese colonialists, introduced monitor lizards to some Micronesian islands during the early 20th century. But the study proves at least some of the islands monitor lizards got there before humans.

Because the lizards have been presumed to be invasive predators, local officials and inhabitants of these Micronesian islands have tried to curb or eradicate these populations.

Poisonous cane toads, for example, were brought to Kayangel Atoll in Palau to reduce monitor lizards predation on livestock. In the early 2010s, bounty programs in Angaur State, Palau, culled hundreds. And on Cocos Island off Guams coast, monitor lizard populations have been controlled to protect an endangered native bird. More plans are underway, according to the paper, to eradicate monitor lizards from Losiep Island in the Caroline Islands.

Whether a species is invasive or not reshapes conversations around conservation, Dr. Lockwood said. In a similar scenario in 2012, genetic testing revealed that red foxes preying on threatened shorebirds in the southeastern United States had arrived through the expansion of a natural Canadian range and not from an overseas translocation, as previously believed.

You may still have a reason to cull a predator population. But you cant use their native or nonnative status as justification, she said. Its possible well uncover more of these.

Researchers hope the revelation that monitor lizard species are natives could shift eradication efforts toward the islands other known invasives, such as brown tree snakes, feral pigs and nonnative deer, cats and rats.

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These Large Carnivorous Lizards Are Right Where They Belong - The New York Times

Global Predictive Genetic Testing Market Report 2020- Covering Impact of COVID-19, Financial Information, Developments, SWOT Analysis by Global Top…

The Global Predictive Genetic Testing Market research report covers the size (value, production and consumption), splits the breakdown (data status 2015-2019 and forecast to 2027), by manufacturers, region, type and application. All the information in the research report is collected through primary and secondary research. Primary research collected by using various methods such as interviews, surveys and observation of analysts and secondary research grabbed by using well known paid sources, trade journals, and industry databases. The Predictive Genetic Testing Market report also utilizes qualitative and quantitative methods for analyzing data gathering from various industry analysts and market players.

Major Key Players for Global Predictive Genetic Testing Market. The report focuses on global major leading industry players of Predictive Genetic Testing market such as: Key players profiled in the report include: 23,Me Inc., Abbott, Ambry Genetics, BGI, Biocartis Group NV, Bio-Helix Co. Ltd., bioMerieux SA, Blueprint Genetics, Cepheid, Counsyl Inc., deCODE Genetics, GeneDx, Genomic Health Inc., Genomictree Inc., HTG Molecular Diagnostics Inc., Illumina Inc., IntegraGen, Invitae Corporation, LabCorp

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Global Predictive Genetic Testing market report is divided into different segments such as product type Predictive Testing, Consumer Genomics, Wellness Genomics and applications types Breast and Ovarian Cancer, Cardiovascular screening, Diabetic Screening and Monitoring, Colon Cancer, Other, and report covers the various geographical regions such as North America, Asia-Pacific, Europe, Africa, South America, and other regions. Also, various countries included are Canada, U.K., France, the U.S., Russia, China, India, and Germany and so on.

On the basis of the market shares, revenue, and other important factors all the segments are included in the Predictive Genetic Testing market report. And the reports various segments are adding the growth in the global Predictive Genetic Testing market. The report also provides information on the current key trends according to the segment analysis. With the help of all this detailed information existing and new market players getting the exact promising regions of the global Predictive Genetic Testing market. The research report also offers an independent analysis of the segments according to the market opportunity.

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According to the current market situation, Predictive Genetic Testing market manufacturers understand, collect and auspicious convey appraisal on effect of COVID-19 fiasco on numerous companies and their customers to help them in taking fantastic business choices. This research report also analyzes the market status, market share, growth rate, future trends, market drivers, opportunities and challenges, risks and entry barriers, sales channels, distributors and Porters Five Forces Analysis.

Global Predictive Genetic Testing Market Segments and Sub-segments:

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There are 13 Chapters to display the Global Predictive Genetic Testing market:

Chapter 1: Market Overview, Drivers, Restraints and Opportunities, Segmentation overviewChapter 2: Market Competition by ManufacturersChapter 3: Production by RegionsChapter 4: Consumption by RegionsChapter 5: Production, By Types, Revenue and Market share by TypesChapter 6: Consumption, By Applications, Market share (%) and Growth Rate by ApplicationsChapter 7: Complete profiling and analysis of ManufacturersChapter 8: Manufacturing cost analysis, Raw materials analysis, Region-wise manufacturing expensesChapter 9: Industrial Chain, Sourcing Strategy and Downstream BuyersChapter 10: Marketing Strategy Analysis, Distributors/TradersChapter 11: Market Effect Factors AnalysisChapter 12: Market ForecastChapter 13: Predictive Genetic Testing Research Findings and Conclusion, Appendix, methodology and data source.

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FDA Approves RET Inhibitor Retevmo for Lung and Thyroid Cancer – Cancer Health Treatment News

On May 8, the Food and Drug Administration (FDA) granted accelerated approval of Retevmo (selpercatinib), the first RET inhibitor, for people with non-small-cell lung cancer (NSCLC) and two types of thyroid cancer with specific genetic mutations.

Innovations in gene-specific therapies continue to advance the practice of medicine at a rapid pace and offer options to patients who previously had few, Richard Pazdur, MD, director of the FDAs Oncology Center of Excellence, said in a press release.

Retevmo, from Eli Lilly and companywhich obtained the drug, then known as LOXO-292, when it acquired Loxo Oncology last yearis a selective inhibitor of a receptor tyrosine kinase known as RET. This enzyme plays a role in cell proliferation, and mutations or fusions in the RET gene can drive cancer development. RET alterations are rare overall, occurring in less that 1% of all cancers and 2% of NSCLC, but they are more frequent in certain cancer types.

Drugs that work against cancers with a specific genetic alteration anywhere in the body are known as pancancer, or site-agnostic, therapies. Retevmo, however, was approved for specific cancer types. It is indicated for adults with metastatic RET fusion-positive NSCLC and for adults and adolescents (age 12 and up) with advanced or metastatic RET fusion-positive thyroid cancer or advanced or metastatic RET-mutant medullary thyroid cancer. Medullary thyroid cancer, which involves a specific type of cell, is uncommonaccounting for only 4% of all thyroid cancersbut it frequently has RET mutations.

Retevmo can be used regardless of prior treatment history, both by those who have tried prior systemic medications and those starting treatment for the first time.

The accelerated approval was based on promising findings from the Phase I/II LIBRETTO-001 trial. Study results were previously presented at the 2018 American Society of Clinical Oncology annual meeting,the 2019 World Conference on Lung Cancerand the 2019 European Society for Medical Oncology Congress.

LIBRETTO-001 enrolled people with NSCLC, thyroid cancer and a variety of other solid tumors with RET mutations or fusions. Both previously treated patients and those starting systemic treatment for the first time were eligible. Everyone was treated with Retevmo, taken as a pill twice daily; there was no placebo group.

Retevmo led to an overall response ratemeaning complete or partial tumor shrinkagein 64% of the 105 previously treated people with NSCLC, rising to 85% for the 39 patients new to treatment. The mediation duration of response was 17.5 months for the treatment-experienced group, and was not reached in the newly treated group because a majority were still responding.

When he presented preliminary study findings last year, Alexander Drilon, MD, of Memorial Sloan Kettering Cancer Center in New York City, noted that Retevmo appeared particularly active against cancer that had spread to the brain. Ten of the 11 people with brain metastasis (91%) experienced shrinkage of cancer in the brain, including 18% with complete remission.

In the clinical trial, we observed that the majority of metastatic lung cancer patients experienced clinically meaningful responses when treated with selpercatinib, including responses in difficult-to-treat brain metastases, Drilon said in a Lilly press release. The approval of selpercatinib marks an important milestone in the treatment of NSCLC, makingRET-driven cancers now specifically targetable in the same manner as cancers with activating EGFR and ALK alterations, across all lines of therapy.

Looking at the participants with thyroid cancer, the overall response rate was 69% for the 55 treatment-experienced patients and 73% for the 88 previously untreated people with RET-mutant medullary thyroid tumors. Here, the duration of response was 22.0 months for the previously untreated group and not reached for the treatment-experienced group. In the smaller subset of 19 previously treated and eight newly treated people with RET fusion-positive thyroid cancer, the overall response rates were 79% and 100%, respectively. Response duration was 18.4 months in the former group and not reached in the latter group.

RETalterations account for the majority of medullary thyroid cancers and a meaningful percentage of other thyroid cancers, saidLori Wirth, MD, of Massachusetts General Hospital Cancer Center. For patients living with these cancers, the approval of selpercatinib means they now have a treatment option that selectively and potently inhibitsRET.

Treatment with Retevmo was generally safe and well tolerated, with just 5% of participants stopping treatment because of adverse events. The most common adverse reactions include diarrhea, constipation, dry mouth, fatigue, swelling, rash, high blood pressure, elevated ALT and AST liver enzymes, elevated glucose, cholesterol and creatinine, and various other laboratory test abnormalities.

The product label for Retevmo includes warnings about several potential serious side effects: liver toxicity, severe high blood pressure, bleeding, heart rhythm abnormalities, hypersensitivity reactions and slow wound healing. Retevmo can cause fetal harm if used during pregnancy.

A Lilly spokesperson told FiercePharma that Retevmo would be available from specialty pharmacies within a week at a list price of about $20,600 for a 30-day supply.

Drugs that receive accelerated approval based on response rates in early studies are expected to undergo further testing in larger randomized trials to confirm clinical benefits such as improved survival, and the FDAcan rescind approval if they dont measure up. Two Phase III trials, Libretto-431 for NSCLC ( number NCT04194944) and Libretto-531 for medullary thyroid cancer ( number NCT04211337), are currently underway.

Another investigational RET inhibitor, Blueprint Medicines pralsetinib (formerly known as BLU-667) has also demonstrated good activity in an early study, with overall response rates of 60% for NSCLC patients who used prior platinum-based chemotherapy and 71% for previously untreated people.

The availability of RET inhibitors underscores the need for genetic testing to determine which patients have gene mutations or fusions that could make them eligible for these new targeted therapies. Next-generation sequencing of a tumor tissue biopsy sample or liquid biopsy using a blood sample can reveal multiple actionable genetic alterations. However, there is currently no FDA-approved companion test specifically for RET alterations.

Increasingly, through the use of comprehensive biomarker testing, patients with metastatic cancer have an opportunity to receive a treatment tailored to the specific genomic nature of their tumor, Andrea Ferris, president and chief executive officer of LUNGevity, said in the Lilly press release. We urge patients to ask their doctors about broad biomarker tests that includeRETalterations.

Click here for full prescribing information for Retevmo.

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FDA Approves RET Inhibitor Retevmo for Lung and Thyroid Cancer - Cancer Health Treatment News

Prevent Blindness Offers New Educational Resources on IRD’s, Importance of Genetic Testing and Services – InvisionMag

(PRESS RELEASE) CHICAGO In order to help patients with Inherited Retinal Diseases (IRDs) receive an accurate diagnosis through genetic testing, Prevent Blindness, the nations oldest volunteer eye health organization, is embarking on a new awareness initiative to educate the public on IRDs, a group of genetic disorders that can cause severe vision loss or total blindness. A recent editorial noted that IRDs are the leading cause of vision loss in persons between 15 and 45 years of age- impacting one in every 2,000 people.

To continue the Prevent Blindness mission of preventing blindness and saving sight, the group has declared May 17-23, 2020 as Inherited Retinal Disease Genetic Testing Week. As part of this initiative, Prevent Blindness has created a dedicated webpage (to go live on May 15, 2020) with no-cost educational resources on IRDs, providing detailed information on risk factors, therapy and research options, financial assistance services, the importance of genetic testing, and more. Shareable social media graphics on IRDs are also available. Development of these new resources was supported by a donation from Spark Therapeutics, a gene therapy company striving to challenge the inevitability of genetic disease.

The most common types of IRDs include:

All those diagnosed with IRDs should work with their healthcare professional to develop a disease management plan tailored to the patients needs.

Patients with suspected IRDs are encouraged to participate in genetic testing, even those who were tested more than five years ago and did not receive a definitive result. According to the National Institutes of Health, genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test may provide a detailed diagnosis which confirms or rules out most suspected genetic conditions and the test can help determine a persons chance of developing or passing on a genetic disorder to their children. Free genetic testing is now available from select organizations and commercial businesses, including through the ID YOUR IRD program.

Inherited retinal diseases can have a significant impact on the quality of life for patients, including affecting the ability to work and live independently, said Jeff Todd, president and CEO of Prevent Blindness. Fortunately, today there are more therapies being researched than ever before. We encourage patients and their caregivers to educate themselves on steps that can be taken today to save sight for tomorrow.

As a leading gene therapy company with a strong commitment to genetic testing for the IRD community, Spark Therapeutics is pleased to support the Prevent Blindness inaugural IRD Genetic Testing Week, said Dan Chung, DO, MA, ophthalmology therapeutic area leader, Spark Therapeutics. We encourage patients living with IRDs and caregivers to pursue genetic testing in order to receive a true, genetic diagnosis.

For more information on IRDs and genetic testing for vision issues, please call Prevent Blindness at (800) 331-2020 or visit here. For a listing of vision care financial assistance programs in English or Spanish, visit here.

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Prevent Blindness Offers New Educational Resources on IRD's, Importance of Genetic Testing and Services - InvisionMag


The Covid-19 (coronavirus) pandemic is impacting society and the overall economy across the world. The impact of this pandemic is growing day by day as well as affecting the supply chain. The COVID-19 crisis is creating uncertainty in the stock market, massive slowing of supply chain, falling business confidence, and increasing panic among the customer segments. The overall effect of the pandemic is impacting the production process of several industries including Life science Industry, and many more. Trade barriers are further restraining the demand- supply outlook. As government of different regions have already announced total lockdown and temporarily shutdown of industries, the overall production process being adversely affected; thus, hinder the overall Genetic Testing Service market globally. This report on Genetic Testing Service market provides the analysis on impact on Covid-19 on various business segments and country markets. The report also showcase market trends and forecast to 2027, factoring the impact of Covid -19 Situation.

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The Genetic Testing Service market was valued at US$ 9,546.2 million in 2019 and is expected to grow at a CAGR of 11.7% from 2020 to 2027 to reach US$22,701.8million by 2027.

Market Insights

Government initiatives to increase awareness in the European Region

In Europe, Genetic testing has been growing at an exceptional rate; a large panel of tests are now offered to screen a number of genetic diseases. Treatments are available for a number of rare genetic diseases, and the process is gaining importance in scenarios, such as carrier testing, newborn screening, predictive, and pre-symptomatic testing, among others. Moreover, European countries have undertaken a number of initiatives to increase awareness among people about the benefits of genetic testing. For instance, EuroGentest is a project funded by the European Commission to harmonize the process of genetic testing, from sampling to counseling, across Europe. The ultimate goal is to ensure that all aspects of genetic testing are of high quality, thereby providing accurate and reliable results for the benefit of the patients. In addition, the UK Genetic Testing Network (UKGTN), an advisory organization in UK, promotes equity of access to genetic testing and provides contracting support to the NHS

Type Insights

The global genetic testing service market, based on the type, has been segmented into predictive testing, carrier testing, prenatal testing, newborn screening and others. In 2019, the predictive testing segment accounted for the largest market share in the global genetic testing service market by disease. Genetic Testing Services consist of large panel of tests are now offered to screen a number of genetic diseases. Treatments are available for a number of rare genetic diseases, and the process is gaining importance in scenarios, such as carrier testing, newborn screening, predictive, and pre-symptomatic testing, among others.

Key Players

The research provides answers to the following key questions:

The study conducts SWOT analysis to evaluate strengths and weaknesses of the key players in the Genetic Testing Services market. Further, the report conducts an intricate examination of drivers and restraints operating in the market. The report also evaluates the trends observed in the parent market, along with the macro-economic indicators, prevailing factors, and market appeal according to different segments. The report also predicts the influence of different industry aspects on the Genetic Testing Services market segments and regions.

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Genetic Testing Services Market Segmented by Region/Country: North America, Europe, Asia Pacific, Middle East & Africa, and Central & South America

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Genetic Testing Market Report 2020: Acute Analysis of Global Demand and Supply 2025 with Major Key Player: GeneDx, Invitae, Pathway Genomics, Counsyl…

Due to the pandemic, we have included a special section on the Impact of COVID 19 on the Genetic TestingMarket which would mention How the Covid-19 is Affecting the Industry, Market Trends and Potential Opportunities in the COVID-19 Landscape, Key Regions and Proposal for Genetic Testing Market Players to battle Covid-19 Impact.

The Genetic TestingMarket report is one of the most comprehensive and important data about business strategies, qualitative and quantitative analysis of Global Market. It offers detailed research and analysis of key aspects of the Genetic Testing market. The market analysts authoring this report have provided in-depth information on leading growth drivers, restraints, challenges, trends, and opportunities to offer a complete analysis of the Genetic Testing market.

Top Leading players covered in the Genetic Testing market report: GeneDx, Invitae, Pathway Genomics, Counsyl Inc, Asper Biotech, GenePlanet, Courtagen Life Sciences, Gene By Gene, Natera Inc, Regulatory, GeneTests, United Gene, HI Gene, Berry Genomics, 23andMe Inc, 360Jiyin, Novogene, CapitalBio, Agen, Biomedlab, Biomarker, Annoroad, Aiyin Gene, Aijiyin, Repconex, Find Bio-Tech, SinoGenoMax, Gene Kang, Geeppine, BGI and More

Get PDF Sample Report With Impact of COVID-19 on Genetic Testing [emailprotected]

The report offers clear guidelines for players to cement a position of strength in the global Genetic Testing market. It prepares them to face future challenges and take advantage of lucrative opportunities by providing a broad analysis of market conditions. the global Genetic Testing market will showcase a steadyCAGR in the forecast year 2020 to 2025.

Based on products type, the report describes major products type share of regional market. Products mentioned as follows:Newborn ScreeningDiagnostic TestingCarrier TestingPreimplantation Genetic DiagnosisPrenatal DiagnosisPredictive and Presymptomatic TestingPharmacogenomicsBased on Application, the report describes major application share of regional market. Application mentioned as follows:CardiologyDermatologyHematologyHereditary CancerImmunologyMetabolic Disorders and Newborn ScreeningNeurologyOphthalmologyPediatric GeneticsOthers

Our Complimentary Sample Genetic Testing market Report Accommodate a Brief Introduction of the research report, TOC, List of Tables and Figures, Competitive Landscape and Geographic Segmentation, Innovation and Future Developments Based on Research Methodology.

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Regions Covered in the Global Genetic Testing Market: The Middle East and Africa (GCC Countries and Egypt) North America (the United States, Mexico, and Canada) South America (Brazil etc.) Europe (Turkey, Germany, Russia UK, Italy, France, etc.) Asia-Pacific (Vietnam, China, Malaysia, Japan, Philippines, Korea, Thailand, India, Indonesia, and Australia)

Years Considered to Estimate the Genetic Testing Market Size:History Year: 2015-2019Base Year: 2019Estimated Year: 2020Forecast Year: 2020-2025

Highlights of the Report: Accurate market size and CAGR forecasts for the period 2019-2025 Identification and in-depth assessment of growth opportunities in key segments and regions Detailed company profiling of top players of the global Genetic Testing market Exhaustive research on innovation and other trends of the global Genetic Testing market Reliable industry value chain and supply chain analysis Comprehensive analysis of important growth drivers, restraints, challenges, and growth prospects

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Genetic Testing Market Report 2020: Acute Analysis of Global Demand and Supply 2025 with Major Key Player: GeneDx, Invitae, Pathway Genomics, Counsyl...

Burning Rock deepens cooperation with Illumina to promote development and standardization of NGS-based cancer therapy selection in China – BioSpace

SHANGHAI, China, May 10, 2020 (GLOBE NEWSWIRE) -- Burning Rock and Illumina (NASDAQ: ILMN), a global leader in gene sequencing and array-based technologies, jointly announced today that they are joining forces to promote the development and standardization of NGS-based cancer therapy selection in China based on Illuminas NextSeqTM 550Dx system.

In 2015, Illuminas sequencing technology and Burning Rocks development and commercial capabilities were for the first time combined, providing Chinas precision oncology market with advanced NGS-based cancer therapy selection solutions in the past five years. In 2020, as the first genetic testing company in China to achieve development of in vitro diagnostic (IVD) tests for both circulating tumor DNA (ctDNA) and tissue based on the NextSeqTM 550Dx system agreement with Illumina, Burning Rock will further expand and deepen the application of NGS technologies in the field of cancer therapy selection.

The value of NGS application in precision medicine and companion diagnostics has been widely recognized by clinical experts and cancer patients. Compared with traditional genetic testing methods, NGS-based cancer therapy selection allows patients to understand the mutation of multiple genes related to cancer treatment, providing doctors and patients with one-stop targeted therapy and immunotherapy drugs testing solutions, ultimately saving time and preserving samples.

In July 2018, Burning Rocks innovative product "Human EGFR / ALK / BRAF / KRAS gene mutation detection kit (reversible end termination sequencing method)" based on Illumina sequencing system became the first NGS-based reagent kit to be approved by National Medication Products Administration (NMPA). Since then, tumor NGS testing can be officially used in Chinese hospitals. In the future, Burning Rock will continue to seek NMPA approvals for its IVD products based on NextSeqTM 550Dx and other sequencing systems to promote the implementation of tumor NGS products in hospitals and benefit more cancer patients.

Through our long-term, close and pleasant cooperation with Illumina, we have delivered the world's leading NGS-based therapy selection solutions for clinical oncology, and improved the development and application of NGS-based cancer therapy selection in China. said Mr. Han Yusheng, founder and CEO of Burning Rock. Today we are delighted to announce that Burning Rock and Illumina will further deepen cooperation based on the NextSeqTM 550Dx system, to provide more high-quality molecular diagnostic solutions for clinical oncology treatment and promote the standardization of NGS-based cancer therapy selection in China.

Burning Rock is one of the leading precision oncology companies in China, said Joydeep Goswami, Senior Vice President of Corporate Development and Strategic Planning at Illumina, said. I am pleased to see that during the close cooperation with Illumina in the past five years, Burning Rock has continuously developed tumor diagnosis solutions that meet the needs of the local market. The new agreement is a testament to our strong cooperation in the past, and also the beginning of a more in-depth cooperation.

Li Qing, General Manager of Greater China at Illumina, said: Burning Rock has brought hope to countless Chinese patients by providing a series of tumor molecular diagnostic solutions. And we are very happy to be involved. In the future, I firmly believe that genetic testing technology will further change the current treatment paradigm for cancer and provide critical support to conquer this disease at an early date.

About Burning RockBurning Rock, whose mission is to Guard Life via Science, focuses on the application of next generation sequencing (NGS) technology in the field of precision oncology. Its business consists of i) NGS-based therapy selection testing for late-stage cancer patients, with the leading market share in China and over 185,000 tissue and liquid-based tests completed cumulatively, and ii) NGS-based cancer early detection, which has moved beyond proof-of-concept R&D into the clinical validation stage.

About IlluminaIllumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture and other emerging segments. To learn more, visit and follow @illumina.

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Burning Rock deepens cooperation with Illumina to promote development and standardization of NGS-based cancer therapy selection in China - BioSpace

Breaking the Code: A lifetime of pain, due to genetic drug intolerance – WTLV-WJXX

A negative drug test for an decades-long opioid patient reveals a genetic abnormality that might be more common than expected.

JACKSONVILLE, Fla. For Linda Armstrong, the pain started 25 years ago with a truck going 45 miles an hour. It left her with severe neurological and brain injuries.

On a scale of one to 10, she said, There are days when its 10. I mean you literally cant move.

Like millions of Americans, she was prescribed opioids -- Vicodin, Dilaudid, Percocet but the pain persisted.

I would get some relief, but nothing that ever really made me functional, she said, "and it always made me nauseous.

Armstrongs lackluster response to pain medications had been a reality since she was a child. Once, getting a cavity filled, she recalls, I had to have 10 shots for one filling because it just would not numb.

Her resistance to drugs was simply anecdotal until she visited her doctor in October. Under new Centers for Disease Control and Prevention guidelines, doctors test opioid patients both for the presence of illegal drugs, and to ensure they are taking and not selling their pain meds.

Her test? Completely negative. There were no drugs of any type in my system.

Initially, her doctor wrote it off as a fluke.

When it happened a second time, Armstrong explained, her doctor said Linda we have to talk about this.

She took another test this time going so far as to take pills while her doctor watched. She even got her hair tested.

Fortunately, Armstrong has had the same doctor since the mid-'90s, and rather than doubting her, she worked to help get answers. She ordered a genetic test, which revealed significant abnormalities -- including in an enzyme called CYP2d6, which metabolizes opioids.

The test revealed something researchers in the field of pharmacogenomics know, but few patients do. People do not respond to drugs in the same way, explains Standford University researcher Dr. Russ Altman in a Ted Talk. Some people get no pain relief at all.

Armstrongs genetic test showed she was a hyper-metabolizer of opioids an issue that creates problems beyond pain. As Altman says, there are only two things a doctor can think when a patient complains they arent getting relief from opioids.

I could think this person is a CYPD2d6 non-responder, or I could think this is a trouble-making drug-seeker who wants something stronger, Altman said. Most doctors think the latter.

Armstrongs case is dramatic but not unusual. Dr Liewei Wang at Mayo Clinic in Rochester, Minn., is a leading researcher in pharmacogenomics research into the interaction of genes and drugs. She says 99 percent of people have at least one genetic variant that affects drug response. Response is variable, and in some cases not desirable.

Genetic testing can predict who may or may not respond, she said, and for those who dont respond -- are there alternative therapies?

In some cases, the wrong drug can be fatal. Already, hospitals like UF Health test cardiac patients before surgery for a gene that complicates blood clotting.

And some fields, like oncology and psychiatry, routinely use genetic tests to prescribe drugs. But most patients arent aware such tests even exist.

Jacksonville Pharmacist Todd Troxell believes genetic testing is the key to more effective prescribing. When you go get your glasses we dont just say, pick something up and go home. We get your prescription, he says. You cant see out of myglasses.

After looking at Armstrongs test, Troxell was able to steer her to a different pain medication that is working. I could tell from what she had on her report she wasnt going to be able to take certain medications.

Troxell would like to see genetic testing more widely available -- and comprehensible. Companies focused on translating dense genetic code into pharmaceutical recommendations were effectively shut down by the FDA in 2018. The agency worriedthe tests could pose significant public health concerns as inaccurate test results could impact the decision-making of healthcare providers and patients in ways that are seriously detrimental to patient health.

The agency walked that back slightly earlier this year, creating a Table of Pharmacogenetic Associations, which lists gene-drug interactions the agency believes are based on sufficient scientific evidence based on published literature.

For now, a genetic test needs to be ordered by a physician, who may or may not be able to interpret the code. And genetics remains just one element that doctors and patients should consider, including age, weight and environmental factors.

But patients like Armstrong say breaking the genetic code shouldnt be a secret it could literally spare them a lifetime of pain. Given the chance early on, she said, I would have had that test done in a heartbeat.

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Breaking the Code: A lifetime of pain, due to genetic drug intolerance - WTLV-WJXX

Kevin Hart Lost his Mom, Nancy to Ovarian Cancer Now, He Reveals Baby Girl, As Treatment Advances Bring Hope – SurvivorNet

Losing a parent to cancer is so hard. On Mothers Day, Kevin Hart paid tribute to his mom, Nancy, who died of ovarian cancer in 2007. He also joined his wife, Eniko, and children wearing pink and white to reveal the gender of their upcoming baby a girl. Happy Mothers Day to this beautiful woman & wife of

mine. we are thrilled about the arrival of our baby girl.Family of 6 WOOOOOOOOW!!!! God is unbelievable.We are blessed to have you in our lives, Hart wrote on Instagram. All I can say is thank you honey.

With no screening test for ovarian cancer, its among the more difficult cancers to diagnose early. Symptoms include abdominal bloating or swelling, quickly feeling full while eating, weight loss, pelvic discomfort or pain, constipation, or a frequent need to urinate but theyre so non-specific that the disease often goes undetected.

RELATED:Exciting Developments in Immunotherapy for Ovarian Cancer

But treatment advances, including genetic testing, minimally invasive surgical techniques, and PARP inhibitor drug therapies have improved the outlook for patients diagnosed today, compared to 2007, when Nancy Hart was fighting the disease over a decade ago.

Experts urge women diagnosed with ovarian cancer, to seek genetic testing at the time of diagnosis, not recurrence. A recent study found that too few women are being tested for mutations of the BRCA gene, like BRCA1 or BRCA2. The presence of these mutations guides treatment decisions and identifies whether patients and family members at a heightened risk for breast cancer or ovarian cancer.

All women diagnosed with ovarian cancer should undergo genetic testing, says Dr. UrsulaMatulonis, Chief of the Division of Gynecologic Oncology at Dana-Farber Cancer Institute.

Ovarian cancer usually develops in women who are post-menopause. But younger women may also get the disease, especially if they carry the BRCA-1 or BRCA-2 genes.

A woman who inherits the BRCA1 gene has a 44% lifetime risk (by age 80) for developing ovarian or fallopian tube cancer, and 70-80% risk of developing breast cancer. With the BRCA2 gene, the risk for ovarian and fallopian tube cancer is 17% higher, while the breast cancer risk is around 70%

Minimally invasive surgical techniques, including robotic surgery using the da Vinci Robot, can benefit about half of women diagnosed with ovarian cancer. These new approaches allow surgeons to be more precise in pinpointing and removing ovarian cancer, which may have spread to surrounding organs. The smaller incisions also help decrease post-operative pain and speed recovery time for patients.

Dr. Allan James (A.J.) White a gynecologic oncologist at the START Center for Cancer Care in San Antonio, Texas, has seen robotic surgery dramatically change ovarian cancer treatment.

Robotic surgery uses cameras and special robotic surgery tools to make it possible for surgeons to operate through a series of small incisions. For ovarian cancer, doctors make about five incisions, each less than a centimeter in size, around the belly button rather than a large open incision down the abdomen midline.

RELATED: Considerations Before And After Ovarian Cancer Surgery

The robotic surgery presents high costs for the medical system, but Dr. White says its so good for the patientsthat, around the country and really around the world,most of us have been shifting to using the robotic techniquewhen its appropriate. For patients, the higher cost of robotic surgery may be offset by decreased hospital time, as its often possible to go home on the day of surgery or shortly thereafter.

Minimally invasive surgery is most appropriate when the disease is focused in the pelvis. Robotic surgery is not an option for every woman with ovarian cancer, saysDr. Lori Weinberg, gynecologic oncologist with Minnesota Oncology.

RELATED:The Robotic Surgery Option for Ovarian Cancer Patients

Most patients with ovarian cancer have disease that is spread out in multiple places, where the robotic platform just cannot achieve what we can do through an open incision, she explains. We really have to tailor our approach to treatment based on what were seeing from the imaging, and also on a patients physical exam.

PARP inhibitors can be a beneficial treatment option for many women with ovarian cancer. These oral drugs work by preventing ovarian cancer cells from repairing DNA damage, which prevents them from continuing to divide and spread.

Amanda Westwood, a physician assistant at UT Southwestern Medical Center in Dallas, Texas. Westwood describes these different potential options:

Recent research confirms that most women with ovarian cancer can benefit from PARP inhibitors, Amanda Westwood, a physician assistant at UT Southwestern Medical Center in Dallas, Texas,although the timing of that benefit can vary depending on her cancers genetic profile, among other factors.

RELATED:PARP Inhibitors for Ovarian Cancer: Understanding the Options

The PARPs have a huge importance in treating ovarian cancer, whether it be upfront maintenance for our BRCA patients or a recurrence setting if theyve had a partial or complete response, and even down the line they can be used as treatment alone, says Amanda Westwood, a physician assistant at UT Southwestern Medical Center in Dallas, Texas.

Westwood describes these different potential options:

After beginning treatment with PARP inhibitors, most women will go in for frequent tests to monitor their tolerance and make sure that the side effects are managed. While some women may experience nausea, the most common side-effect is fatigue. The drugs may also impact blood counts; another reason for close monitoring with lab work.

RELATED: PARP Inhibitors: A Game Changer in Ovarian Cancer Treatment

Over time, these tests may become less frequent.While some women may experience nausea, the most common side-effect is fatigue. But most of the time, patients tolerate PARP inhibitors fairly well, Westwood says.

PARP inhibitors can have a positive impact on progression-free survival, a term doctors use for living with ovarian cancer for a period of time without seeing it spread or progress.

Learn more about SurvivorNet's rigorous medical review process.

Constance Costas is a writer for SurvivorNet.

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Kevin Hart Lost his Mom, Nancy to Ovarian Cancer Now, He Reveals Baby Girl, As Treatment Advances Bring Hope - SurvivorNet

Preimplantation Genetic Testing Market Size, Share, Analysis, Applications, Sale, Growth Insight, Trends, Leaders, Services and 2025 Forecast – Cole…

A leading research firm, Adroit Market Research added a latest industry report on Global Preimplantation Genetic Testing Market, consisting of 180+ pages during the forecast period and preimplantation genetic testing market report offers a comprehensive research updates and information related to market growth, demand, opportunities in the global preimplantation genetic testing market. The coronavirus epidemic (COVID-19) has affected all aspects of life around the world. This has changed some of the market situation. The main purpose of the research report is to provide users with a broad view of the market. Initial and future assessments of rapidly changing market scenarios and their impact are covered in the report.

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The preimplantation genetic testing market report provides in-depth analysis and insights into developments impacting businesses and enterprises on global and regional level. The report covers the global preimplantation genetic testing market performance in terms of revenue contribution from various segments and includes a detailed analysis of key trends, drivers, restraints, and opportunities influencing revenue growth of the global preimplantation genetic testing market. This report studies the global preimplantation genetic testing market size, industry status and forecast, competition landscape and growth opportunity. This research report categorizes the global preimplantation genetic testing market by companies, region, type and end-use industry.

Top Leading Key Players are:

Thermo Fisher Scientific, Inc., Agilent Technologies, Inc., PerkinElmer, Inc., CooperSurgical, Inc., Beijing Genomics Institute (BGI), Abbott Laboratories, Natera, Inc., Genea Limited, Rubicon Genomics, Inc. and Oxford Gene Technology

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The preimplantation genetic testing market report mainly includes the major company profiles with their annual sales & revenue, business strategies, company major products, profits, industry growth parameters, industry contribution on global and regional level. This report covers the global preimplantation genetic testing market performance in terms of value and volume contribution. This section also includes major company analysis of key trends, drivers, restraints, challenges, and opportunities, which are influencing the global preimplantation genetic testing market. Impact analysis of key growth drivers and restraints, based on the weighted average model, is included in this report to better equip clients with crystal clear decision-making insights.

Global Preimplantation Genetic Testing Market is segmented based by type, application and region.

Based on Type, the market has been segmented into:

by Test Type (Aneuploidy, Structural Chromosomal Abnormalities, Single Gene Disorders, X-linked Disorders, HLA Typing, Gender Identification) and Technology (Next Generation Sequencing, Polymerase Chain Reaction, Fluorescent In-Situ Hybridization, Comparative Genomic Hybridization, Single Nucleotide Polymorphism)

The preimplantation genetic testing market research report mainly segmented into types, applications and regions. The market overview section highlights the preimplantation genetic testing market definition, taxonomy, and an overview of the parent market across the globe and region wise. To provide better understanding of the global preimplantation genetic testing market, the report includes in-depth analysis of drivers, restraints, and trends in all major regions namely, Asia Pacific, North America, Europe, Latin America and the Middle East & Africa, which influence the current market scenario and future status of the global preimplantation genetic testing market over the forecast period.

The preimplantation genetic testing market report provides company market size, share analysis in order to give a broader overview of the key players in the market. Additionally, the report also includes key strategic developments of the market including acquisitions & mergers, new product launch, agreements, partnerships, collaborations & joint ventures, research & development, product and regional expansion of major participants involved in the market on the global and regional basis.

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Preimplantation Genetic Testing Market Size, Share, Analysis, Applications, Sale, Growth Insight, Trends, Leaders, Services and 2025 Forecast - Cole...

The Coronavirus Pandemic Will Test Invitae’s Telemedicine Ambitions – Motley Fool

Government efforts to slow the spread of the SARS-CoV-2 virus have had severe negative consequences for the economy. While that includes obvious industries such as restaurants and air travel, the trickle of first-quarter 2020 earnings reported to date have demonstrated that most economic sectors have been affected in at least some way.

Investors should likely expect that to include genetic testing services offered by Invitae (NYSE:NVTA), which reports first-quarter 2020 operating results after the market closes on May 5. The company has pursued a growth-at-all-costs business strategy that hinges on bringing clinical-grade genetic testing to the masses. To succeed, it needs to provide seamless telemedicine capabilities, which are now being tested sooner than expected by the coronavirus pandemic. Will the company get a passing grade and maintain its growth trajectory?

Image source: Getty Images.

Invitae offers genetic testing services to diagnose disease, inform treatment options, screen individuals for health risks, and guide health decisions during pregnancy. Many tests can be purchased online and processed with a saliva sample. The relative simplicity of sample collection suggests a trip to the doctor's office isn't required, even if clinician support is necessary to complete the ordering process.

That could help Invitae to avoid a decline of similar magnitude to NeoGenomics (NASDAQ:NEO). The oncology reference lab processes various types of cancer diagnostics, including genetic tests, at its 11 global laboratories for hospitals and biopharmaceutical companies. It experienced a 25% to 30% decline in test volumes in April 2020 compared to the year-ago period, but many of the samples it processes are more complex than saliva.

But investors can't be sure Invitae's business will avoid severe negative impacts from stay-at-home orders. The ability to do so rests largely on the success of the company's telemedicine capabilities, which also happens to be a key component of the push to make clinical-quality genetic testing part of routine healthcare.

Invitae launched its first telemedicine initiative in June 2019. The goal was to enable a smooth experience for consumers to order medical genetic testing online. To overcome a lack of local genetic testing providers and expert input, the company designed a process guided by expert genetic counseling services that was seamlessly integrated with its state-of-the-art labs. Tests could be ordered and tracked online, with final results sent directly to a patient's personal physician.

Those nascent telemedicine capabilities were bolstered in November 2019 with the acquisition of Clear Genetics, which developed chatbots for providing genetic services at scale. The HIPAA-compliant software product, named Gia, guides doctors and patients through the process for ordering medical genetic testing directly through Invitae.

In early April, Gia received a timely upgrade to make it easier for telehealth providers to determine testing options, order diagnostics, and ensure samples are delivered to laboratories. Results can also be easily accessed and discussed during telemedicine sessions.

Will it be enough to help Invitae avoid a coronavirus slowdown? Perhaps, but investors might want to consider that the bigger obstacle may not be convenience, but awareness. Genetic testing is still a relatively new service in most doctor's offices. The availability of Gia might not matter much if patients and doctors don't know it, or Invitae's growing menu of genetic tests, exists.

Image source: Getty Images.

Given the sudden arrival of the coronavirus pandemic and stay-at-home orders, it's probably unrealistic for investors to expect Invitae to make a seamless transition to telemedicine services. Investors should prepare for the business to be negatively affected -- at least temporarily.

That said, the investment in telemedicine and telehealth capabilities such as Gia give the company a unique advantage in a highly fragmented genetic testing space. The same holds true for the company's relatively unusual focus on providing clinical-grade genetic testing services directly to consumers, which many competitors have mostly resisted to date. Whether it helps Invitae to offset the negative consequences of the coronavirus pandemic or make up for growing losses incurred by the company's growth-at-all costs business model remain to be seen, but investors will get an answer when first-quarter 2020 earnings are released this week.

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The Coronavirus Pandemic Will Test Invitae's Telemedicine Ambitions - Motley Fool

At-home Genetic Testing Market 2020 | In-Depth Study On The Current State Of The Industry And Key Insights Of The Business Scenario By 2027 – Cole of…

Market Expertz have recently published a new report on the global At-home Genetic Testing market. The study provides profound insights into updated market events and market trends. This, in turn, helps one in better comprehending the market factors, and strongly they influence the market. Also, the sections related to regions, players, dynamics, and strategies are segmented and sub-segmented to simplify the actual conditions of the industry.

The study is updated with the impacts of the coronavirus and the future analysis of the industrys trends. This is done to ensure that the resultant predictions are most accurate and genuinely calculated. The pandemic has affected all industries, and this report evaluates its impact on the global market.

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The report displays all leading market players profiles functioning in the globalAt-home Genetic Testingmarket with their SWOT analysis, fiscal status, present development, acquisitions, and mergers. The research report comprises of extensive study about various market segments and regions, emerging trends, major market drivers, challenges, opportunities, obstructions, and growth limiting factors in the market.

The report also emphasizes the initiatives undertaken by the companies operating in the market including product innovation, product launches, and technological development to help their organization offer more effective products in the market. It also studies notable business events, including corporate deals, mergers and acquisitions, joint ventures, partnerships, product launches, and brand promotions.

Leading At-home Genetic Testing manufacturers/companies operating at both regional and global levels:

23andMeMyHeritageLabCorpMyriad GeneticsAncestry.comQuest DiagnosticsGene By GeneDNA Diagnostics CenterInvitaeIntelliGeneticsAmbry GeneticsLiving DNAEasyDNA

The report also inspects the financial standing of the leading companies, which includes gross profit, revenue generation, sales volume, sales revenue, manufacturing cost, individual growth rate, and other financial ratios.

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Dominant participants of the market analyzed based on:

The competitors are segmented into the size of their individual enterprise, buyers, products, raw material usage, consumer base, etc. Additionally, the raw material chain and the supply chain are described to make the user aware of the prevailing costs in the market. Lastly, their strategies and approaches are elucidated for better comprehension. In short, the market research report classifies the competitive spectrum of this globalAt-home Genetic Testingindustry in elaborate detail.

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Market revenue splits by most promising business segments by type, by application, and any other business segment if applicable within the scope of the globalAt-home Genetic Testingmarket report. The country break-up will help you determine trends and opportunities. The prominent players are examined, and their strategies analyzed.

The Global At-home Genetic Testing Market is segmented:

In market segmentation by types of At-home Genetic Testing, the report covers-

Diagnostic ScreeningPGDRelationship testing

In market segmentation by applications of the At-home Genetic Testing, the report covers the following uses-


This At-home Genetic Testing report umbrellas vital elements such as market trends, share, size, and aspects that facilitate the growth of the companies operating in the market to help readers implement profitable strategies to boost the growth of their business. This report also analyses the expansion, market size, key segments, market share, application, key drivers, and restraints.

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To summarize, the global At-home Genetic Testing market report studies the contemporary market to forecast the growth prospects, challenges, opportunities, risks, threats, and the trends observed in the market that can either propel or curtail the growth rate of the industry. The market factors impacting the global sector also include provincial trade policies, international trade disputes, entry barriers, and other regulatory restrictions.

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At-home Genetic Testing Market 2020 | In-Depth Study On The Current State Of The Industry And Key Insights Of The Business Scenario By 2027 - Cole of...

Management of Fertility and Hormonal Health in Women at Risk for Hereditary Gynecologic Cancers – Endocrinology Advisor

Hereditary cancer syndromes account for approximately 5% to 10% of all cancers, including those of the female reproductive organs.1 It is important to identify patients at risk for inherited cancer syndromes to manage and prevent various syndrome-associated malignancies.

The management of women at increased risk for hereditary gynecologic cancer specifically has to take into consideration unique concerns regarding fertility and hormonal health, with the use of appropriate fertility preservation strategies and hormone therapy, according to an evidence-based review by the Society of Gynecologic Oncology and American Society for Reproductive Medicine published jointly in Gynecologic Oncology and Fertility & Sterility.2

The most common conditions associated with gynecologic cancers include hereditary breast and ovarian cancer and hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome.2 Other genetic cancer syndromes that have been linked to increased risk for gynecologic malignancy include Peutz-Jeghers syndrome and Cowden syndrome.1

Hereditary breast and ovarian cancer accounts for approximately 5% of breast cancers and 10% to 25% of ovarian cancers.2 Mutations of the genes breast cancer 1 (BRCA1) and 2 (BRCA2) account for the majority of hereditary ovarian, tubal, and peritoneal cancers.3

Several other pathogenic variants are associated with an increased risk for ovarian cancer but not breast cancer, including variants in BRIP1, RAD51C, and RAD51D. Other pathogenic variants that are associated with an increased risk for breast cancer without a significantly increased risk for ovarian cancer include variants in TP53, CDH1, CHEK2, and ATM.2

Lynch syndrome is associated with increased risk for various solid malignancies other than gynecologic cancers, especially colorectal cancer, with Lynch genes varying in penetrance.2

The International Federation of Gynecology and Obstetrics (FIGO) guidelines detail criteria for genetic risk assessment in hereditary breast and ovarian cancer, based on personal or family history of ovarian and breast cancer, age at diagnosis of the breast or ovarian cancer, or having a close relative with a known mutation or a family history indicative of Lynch syndrome.4

Once a mutation is identified, the patient should be counseled regarding risk-reducing surgery, other risk-reduction strategies, and altered screening.

Screening: Although early detection of malignancies may improve prognosis, there are no effective screening tests for ovarian cancer, even in those at high risk for the malignancy. Transvaginal ultrasound and the cancer antigen 125 (CA 125) test may have a role in these cases.2

Chemoprevention: Several classes of drugs have been investigated for chemoprevention of ovarian cancer, but only oral contraceptives were found to potentially reduce risk for the malignancy. However, several studies have reported a possible increased risk for breast cancer with oral contraceptive in the general population and in women with BRCA1 or BRCA2 mutations.2

Risk-reducing surgery: Women with BRCA1 or BRCA2 mutations should be offered risk-reducing salpingo-oophorectomy by age 35 years or when childbearing is complete, but some countries recommend surgery at age 40 years or at an age that is 5 years younger than the youngest affected family member.4 Women with Lynch syndrome should be offered prophylactic total hysterectomy and bilateral salpingo-oophorectomy after the completion of childbearing, especially after age 40 years, as these measures have been shown to decrease the risk for endometrial and ovarian cancer in this patient population.2

There are multiple fertility-preservation and family-building strategies that can be used to help women achieve their goals, including oocyte and/or embryo cryopreservation; use of donor oocytes, donor embryos, and/or gestational carriers; and adoption.2

Women with BRCA1 or BRCA2 pathogenic variants should be referred early to reproductive endocrinologists, as discussions with physicians and ovarian reserve testing may help inform patients decisions on if and when to pursue fertility preservation.2

Patients have the option to cryopreserve and store oocytes and/or embryos using assisted reproductive technology. Although embryo cryopreservation is an effective strategy for fertility preservation, the success rate is dependent on multiple factors. The use of fertility drugs is not associated with a greater risk for invasive breast, ovarian, or uterine cancer in the general population. There is also no known increased risk for breast cancer with fertility medications in BRCA mutation carriers, but there are limited data on the risk for ovarian cancer in these patients.2

Additional options for parenthood include hormonally priming the uterus for embryo transfer after risk-reducing salpingo-oophorectomy. Even women who have undergone hysterectomy but who have retained ovaries can have children using their own gametes through in vitro fertilization with a gestational carrier. Uterine transplantation is still a novel procedure and its role in fertility preservation has not yet been determined.2

Embryo biopsies for preimplantation genetic testing (PGT) should be offered to carriers of known pathogenic gene variants. Analysis for monogenic/single gene defects (PGT-M) can aid in selecting embryos for intrauterine transfer and serve as an alternative to prenatal testing. However, one study found that only approximately one-third of high-risk women would theoretically use PGT-M themselves.2

Chorionic villus sampling and amniocentesis may be used to assess fetal karyotype and certain chromosomal abnormalities, but as of 2018, it is still considered a screening test primarily for aneuploidy that should not be used for prenatal diagnosis of a cancer risk gene.5

Surgical intervention can result in menopausal symptoms at a young age, including vasomotor symptoms, cognitive changes, increased risk for cardiovascular disease, and osteoporosis. Hormonal therapy may alleviate some of these symptoms, but its use in patients at greater risk for gynecologic and breast cancers is controversial and limited data are available on the safety of hormonal therapy for women with BRCA1 or BRCA2 mutations or those with Lynch syndrome. As the benefits of hormone therapy may outweigh the risks secondary to premature estrogen loss, this option should be considered for women without a personal history of breast cancer.2

Nonhormonal options to reduce vasomotor symptoms include selective serotonin reuptake inhibitors, alpha-2 adrenergic agonists, dietary and lifestyle changes, and alternative medicine approaches.2

Providers who care for women at risk for hereditary gynecologic cancers must consider the impact of these conditions on reproductive and hormonal health, stated the authors of the Society of Gynecologic Oncology and American Society for Reproductive Medicine review. These considerations include discussions about options for cancer prevention, fertility preservation and family planning, and management of early surgical menopause in these patients.


1. Ballinger LL. Hereditary gynecologic cancers: risk assessment, counseling, testing and management. Obs Gynecol Clin N Am. 2012;39(2):165-181.

2. Chen L-M, Blank SV, Burton E, Glass K, Penick E, Woodard T. Reproductive and hormonal considerations in women at increased risk for hereditary gynecologic cancers: Society of Gynecologic Oncology and American Society for Reproductive Medicine evidence-based review. Fertil Steril. 2019;112(6):1034-1042.

3. Shaw PA, Clarke BA. Prophylactic gynecologic specimens from hereditary cancer carriers. Surg Pathol. 2016;9(2):307-328.

4. Mutch D, Denny L, Quinn M; for the FIGO Committee on Gynecologic Oncology. Hereditary gynecologic cancers. Int J Gynecol Obstet. 2014;124(3):189-192.

5. American College of Obstetricians and Gynecologists Committee on Practice Bulletins. Practice bulletin No. 163 summary: screening for fetal aneuploidy. Obs Gynecol. 2016;127(5):979-981.

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Management of Fertility and Hormonal Health in Women at Risk for Hereditary Gynecologic Cancers - Endocrinology Advisor

Invitae Reports More Than $64 Million in Revenue Driven by More Than 154,000 Samples Accessioned in the First Quarter of 2020 – PRNewswire

SAN FRANCISCO, May 5, 2020 /PRNewswire/ -- Invitae Corporation (NYSE: NVTA), a leading medical genetics company, today announced financial and operating results for the first quarter ended March 31, 2020.

"We started the year with a very strong quarter, delivering record growth in volume and first quarter revenues and giving us strong momentum as we began experiencing impacts from the pandemic. As healthcare has shifted, we have been able to quickly leverage our pre-existing strengths, notably our telehealth offerings and our ability to deliver genetic testing remotely," said Sean George, co-founder and chief executive officer of Invitae. "Looking ahead, our investments in diversified products, services, technologies and geographies mean we are well-equipped to drive growth across an increasing number of customer segments as we drive genetics into mainstream medicine."

First Quarter 2020 Financial Results

Total operating expense, excluding cost of revenue, for the first quarter of 2020 was $121.6 million. Non-GAAP operating expense, which excludes amortization of acquired intangible assets and acquisition-related stock-based compensation, was $101.9 million in the first quarter of 2020. Interest and other expense, net and net loss are preliminary and subject to change as we finalize acquisition-related adjustments. These adjustments will be incorporated in Invitae's Form 10-Q to be filed with the SEC on or before May 11, 2020.

Preliminary net loss for the first quarter of 2020 was $102.2 million, or $1.03 preliminary net loss per share, compared to a net loss of $37.7 million in the first quarter of 2019, or $0.47 net loss per share. Preliminary non-GAAP net loss was $79.8 million in the first quarter of 2020, or $0.80 preliminary non-GAAP net loss per share.

At March 31, 2020 cash, cash equivalents, restricted cash, and marketable securities totaled $301.0 million. Net decrease in cash, cash equivalents and restricted cash for the quarter was $61.0 million. Cash burn, including various acquisition-related expenses, was $98.5 million for the quarter; $66.2 million when excluding $32.3 million cash paid to acquire Diploid.

In April, the company completed a public offering of common stock, resulting in gross proceeds of $184.0 million and $173.0 million in net proceeds after deducting underwriting discounts and commissions and offering expenses.

COVID-19 ImpactGlobal stay-at-home orders, lockdowns and shutdown of non-emergency healthcare and elective procedures began impacting Invitae during the second half of March. Invitae took a number of steps in response, including:

The impact of the pandemic on testing volume has and is likely to continue to vary based on clinical area, geography and clinician type. In response, the company has taken a number of steps to reduce cash burn.

The company is continuing to closely monitor the impact of the COVID-19 pandemic and plans to continue to reduce previously communicated cash burn through the remainder of 2020.

Given the unknown duration and extent of COVID-19's impact on our business, and the healthcare system in general, Invitae has previously withdrawn its 2020 guidance.

Corporate and Scientific Highlights

Webcast and Conference Call DetailsManagement will host a conference call and webcast today at 4:30 p.m. Eastern / 1:30 p.m. Pacific to discuss financial results and recent developments. The dial-in numbers for the conference call are (866) 324-3683 for domestic callers and (509) 844-0959 for international callers, and the reservation number for both is 9557177. Please note, after dialing in, you will be prompted to enter the Conference ID and then the pound "#" sign to enter the call. Following prepared remarks, management will respond to questions from investors and analysts, subject to time limitations.

The live webcast of the call and slide deck may be accessed by visiting the investors section of the company's website A replay of the webcast and conference call will be available shortly after the conclusion of the call and will be archived on the company's website.

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

Safe Harbor StatementThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to preliminary financial results, including preliminary net loss and net loss per share; the company's belief that it has been able to quickly leverage its telehealth offerings and its ability to deliver genetic testing remotely; he company's belief that it is well-equipped to drive growth across an increasing number of customer segments as it drives genetics into mainstream medicine; the impact of the COVID-19 pandemic on the company's business, and the measures it has taken or may take In the future with respect thereto; the impact of the company's acquisitions, partnerships and product offerings; and the company's beliefs regarding the growth of its business, its position and impact on the genetic testing industry, its success in executing on its mission and achieving its goals, and the benefits of genetic testing. Forward-looking statements are subject to risks and uncertainties that could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: the impact of the COVID-19 pandemic on the company, and the effectiveness of the efforts it has taken or may take in the future in response thereto; the completion of the closing process, including finalization of acquisition-related adjustments and the magnitude thereof; the company's ability to continue to grow its business, including internationally; the company's history of losses; the company's ability to compete; the company's failure to manage growth effectively; the company's need to scale its infrastructure in advance of demand for its tests and to increase demand for its tests; the risk that the company may not obtain or maintain sufficient levels of reimbursement for its tests; the company's failure to successfully integrate or fully realize the anticipated benefits of acquired businesses; the company's ability to use rapidly changing genetic data to interpret test results accurately and consistently; security breaches, loss of data and other disruptions; laws and regulations applicable to the company's business; and the other risks set forth in the company's Annual Report on Form 10-K for the year ended December 31, 2019. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Non-GAAP Financial MeasuresTo supplement Invitae's consolidated financial statements prepared in accordance with generally accepted accounting principles in the United States (GAAP), the company is providing several non-GAAP measures, including non-GAAP gross profit, non-GAAP cost of revenue, non-GAAP operating expense, including non-GAAP research and development, non-GAAP selling and marketing and non-GAAP general and administrative, as well as non-GAAP net loss and net loss per share and non-GAAP cash burn. These non-GAAP financial measures are not based on any standardized methodology prescribed by GAAP and are not necessarily comparable to similarly-titled measures presented by other companies. Management believes these non-GAAP financial measures are useful to investors in evaluating the company's ongoing operating results and trends.

Management is excluding from some or all of its non-GAAP operating results (1) amortization of acquired intangible assets and (2) acquisition-related stock-based compensation related to inducement grants. These non-GAAP financial measures are limited in value because they exclude certain items that may have a material impact on the reported financial results. Management accounts for this limitation by analyzing results on a GAAP basis as well as a non-GAAP basis and also by providing GAAP measures in the company's public disclosures.

Cash burn excludes (1) changes in marketable securities and (2) cash received from exercises of warrants. Management believes cash burn is a liquidity measure that provides useful information to management and investors about the amount of cash consumed by the operations of the business. A limitation of using this non-GAAP measure is that cash burn does not represent the total change in cash, cash equivalents, and restricted cash for the period because it excludes cash provided by or used for other operating, investing or financing activities. Management accounts for this limitation by providing information about the company's operating, investing and financing activities in the statements of cash flows in the consolidated financial statements in the company's most recent Quarterly Report on Form 10-Q and Annual Report on Form 10-K and by presenting net cash provided by (used in) operating, investing and financing activities as well as the net increase or decrease in cash, cash equivalents and restricted cash in its reconciliation of cash burn.

In addition, other companies, including companies in the same industry, may not use the same non-GAAP measures or may calculate these metrics in a different manner than management or may use other financial measures to evaluate their performance, all of which could reduce the usefulness of these non-GAAP measures as comparative measures. Because of these limitations, the company's non-GAAP financial measures should not be considered in isolation from, or as a substitute for, financial information prepared in accordance with GAAP. Investors are encouraged to review the non-GAAP reconciliations provided in the tables below.


Consolidated Balance Sheets

(in thousands)


March 31,2020

December 31,2019


Current assets:

Cash and cash equivalents





Marketable securities



Accounts receivable



Prepaid expenses and other current assets



Total current assets



Property and equipment, net



Operating lease assets



Restricted cash



Intangible assets, net






Other assets



Total assets





Liabilities and stockholders' equity

Total liabilities and stockholders' equity





Certain line items have been condensed as we finalize acquisition-related adjustments. These adjustments will be incorporated in Invitae's Form 10-Q to be filed with the SEC on or before May 11, 2020.


Consolidated Statements of Operations

(in thousands, except per share data)


Three Months EndedMarch 31,




Test revenue





Other revenue



Total revenue



Cost of revenue



Research and development



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Invitae Reports More Than $64 Million in Revenue Driven by More Than 154,000 Samples Accessioned in the First Quarter of 2020 - PRNewswire

IIT launches a Covid-19 Test Bus in Mumbai capable of conducting 5 million tests per month – Business Insider India

On Maharashtra Day on May 1, the Indian Institute of Technology (IIT) Alumni Council launched a test bus that can reduce the cost of testing by over 80% without compromising on the testing capacity. IIT Alumni Council is a global alumni body for all the twenty three IITs.

The IIT Alumni Council has taken a proactive approach to supporting the Governments efforts in fighting the Covid-19 challenge. We have acted swiftly and set up the IIT C19 Task Force to channelise the energies of the global IIT Alumni for this fight, said Ravi Sharma, President, IIT Alumni Council.

The move is aimed at supporting the health department in tackling the pandemic that has caused 361 deaths and over 11,000 infections in Mumbai alone. Indias testing capacity stood at 177 tests per million, as on April 15.


The IIT C19 Test Bus is based on the Kodoy architecture model that can facilitate affordable and rapid testing. It involves e-vehicles for sample selection & telemedicine, algorithm based pooled genetic testing and megalabs that are capable of conducting up to five million tests per month per lab.

The Covid-19 Test Bus is based on indigenous technology and to the best of our knowledge, is the first vehicle of its kind in the world with onboard genetic testing, AI-based teleradiology and contactless sample collection. We chose Mumbai as the launch location given the relatively high number of cases in the city, Sharma said.


At first, a digital chest x-ray would be carried out and sent to the doctors online. The healthcare staff will then use artificial intelligence to see the probability of a person having Coronavirus.

Then we collect the swab from the mouth and throat which is done across a glass screen whilst fully protecting the technician from any kind of contact with the patient, said Dr Muffazal Lakadawala, Chief Medical Officer at the NSCI hub.


To onboard the lab space on the test bus, the IIT Alumni Council has partnered with Krsnaa Diagnostics, a venture-capital funded laboratory in India.

See also:Googles mobility report reveals that nearly half of Maharashtras workforce went to work despite Coronavirus lockdownAdvertisement

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IIT launches a Covid-19 Test Bus in Mumbai capable of conducting 5 million tests per month - Business Insider India

10 New Books We Recommend This Week – The New York Times

The great American Zen poet and eco-warrior Gary Snyder turns 90 on Friday. Ive been thinking a lot about Snyder lately, along with other nature-minded writers like Annie Dillard and Barry Lopez, as Ive grown more restless during lockdown and started spending time in the deep woods where I live. (OK, theyre not that deep. But neither was Walden Thoreau brought laundry to his mothers house! and they at least give the illusion of solitude.) Snyders no hermit. One thing I admire about his work is its sense of fellowship: how alert it is to the links between land and politics and culture. He writes about nature, sure, but also about human nature. In honor of his birthday, maybe spend a few minutes reading Axe Handles or Above Pate Valley.

Theres not much nature on this weeks list of recommended titles, but theres plenty of politics and culture. You could read Lawrence Wrights prescient new pandemic thriller, The End of October, if you dare. You say you prefer your world affairs without viruses? In that case we might suggest Dalia Sofers novel Man of My Time, about an Iranian mans path from revolutionary to government interrogator, or Gotz Alys history Europe Against the Jews, about the 19th-century political spasms that led to the Holocaust. Theres In Deep, in which David Rohde investigates the alleged existence of a bureaucratic deep state, or The Inevitability of Tragedy, in which Barry Gewen (a longtime editor at the Book Review) traces the roots of Henry Kissingers political philosophy. Or theres Nobodys Child, Susan Nordin Vinocours incisive look at the problems and promise of the insanity defense as its used in American jurisprudence.

We also recommend a Gothic novel set in the Italian Alps, a story collection about refugees and immigrants in North America, a memoiristic biography of the woman who founded Weight Watchers, and an immersion in the ways of French cooking courtesy of Bill Bufords Dirt which, come to think of it, has a lot to do with nature after all.

Gregory CowlesSenior Editor, BooksTwitter: @GregoryCowles

THE END OF OCTOBER, by Lawrence Wright. (Knopf, $27.95.) The sweeping, authoritative and genuinely intelligent thriller the sort of novel in which the author employs a bulldozer and a scalpel at the same time is a rare specimen, our critic Dwight Garner writes, and The End of October is one of those rarities. The fact that its about the world in shock and ruin because of a virus similar to Covid-19 makes it read as if its been shot out of a cannon.

MAN OF MY TIME, by Dalia Sofer. (Farrar, Straus & Giroux, $27.) Sofers second novel traces a mans path from baffled revolutionary in Iran to complicit actor in a ruthless regime sure he can undermine the system from inside. It is a master class in layering together a character who is essentially unforgivable but no less captivating. With Sofers considerable talents, the betrayals (of both self and others) that leave Hamid a brittle shell of a man are fully worthy of our intense gaze, Rebecca Makkai writes in her review.

THE ANCESTOR, by Danielle Trussoni. (Morrow/HarperCollins, $27.99.) When a genetic testing site reveals ordinary Bert Monte to be Countess Alberta Montebianco, heiress to a grand old estate in the Italian Alps, she decides to claim her birthright. Trussonis Gothic novel explores what happens next. The central contradictions in The Ancestor reside in the questions of who we are and where we belong of what divides us and what unites us, Carol Goodman writes in her review. Those are the mysteries were invited to discover in this chilling and inventive novel.

NOBODYS CHILD: A Tragedy, a Trial and a History of the Insanity Defense, by Susan Nordin Vinocour. (Norton, $28.95.) The insanity defense, deployed in fewer than 1 percent of criminal cases and successful only about a quarter of the time, nevertheless looms large in debates about crime and punishment. Vinocour shows the injustices of this sliver of our legal system meant to bring together psychiatric research and criminal law. She makes her case delicately, every page offering an incriminating new piece of evidence, scientific fact or court case that demonstrates just how unjust our legal system is to anyone suffering the misfortune of mental illness, our reviewer, Rachel Louise Snyder, writes.

THE INEVITABILITY OF TRAGEDY: Henry Kissinger and His World, by Barry Gewen. (Norton, $30.) In this magisterial account, Gewen, a longtime editor at the Book Review, traces the historical and philosophical roots of Kissingers famous realism, situating him in the context of Hannah Arendt and a cohort of other Jewish intellectuals who escaped Nazi Germany. The book is a timely and acute defense of the great realists actions, values and beliefs, according to John A. Farrells review. Gewens book is a thoughtful rumination on human behavior, philosophy and international relations,

IN DEEP: The FBI, the CIA, and the Truth About Americas Deep State, by David Rohde. (Norton, $30.) Rohde examines Donald Trumps contention that there is a deep state trying to undermine his presidency, offering a history of the conspiracy theory and concluding that, despite the presence of an institutional government made up of career civil servants, there is no such thing. Some of the books most fascinating passages trace the rise of William Barr, Trumps attorney general, from his time as a C.I.A. intern, Fred Kaplan writes in his review. Rohde highlights Barrs activism, along with a small group of other conservative lawyers, in the Federalist Society and the Catholic Information Center, which now exercise enormous influence. The tale of these groups is worth an entire book.

HOW TO PRONOUNCE KNIFE: Stories, by Souvankham Thammavongsa. (Little, Brown, $26.) Most of the characters in this spare and rigorous debut collection by Thammavongsa, a Canadian writer and poet, are immigrants in unnamed North American cities, struggling with loneliness and the challenges of mastering the English language. Thammavongsas spare, rigorous stories are preoccupied with themes of alienation and dislocation, her characters burdened by the sense of existing unseen, Sarah Resnick writes in her review. Thammavongsas gift for the gently absurd means the stories never feel dour or predictable, even when their outcomes are by some measure bleak.

THIS IS BIG: How the Founder of Weight Watchers Changed the World and Me, by Marisa Meltzer. (Little, Brown, $28.) This is a story of kinship between two women who never met: Meltzer, a journalist, and Jean Nidetch, the founder of Weight Watchers. The two have more in common than their struggles with the scale, as Meltzer frankly details. By toggling between Nidetchs story and her own, Meltzer positions herself and the weight-loss icon as battle buddies of a sort, separated by time and space, yet bound by efforts to lose weight and to thrive within the boundaries imposed on women of their respective generations, our reviewer, Lily Burana, writes. Meltzer has created a singular companionate text for those who know the agony of frustration surrounding weight as an issue, both personal and political.

EUROPE AGAINST THE JEWS: 1880-1945, by Gotz Aly. (Metropolitan/Holt, $32.99.) The origins of the Holocaust, Aly argues, are to be found in the rise of nationalism and the persecution of minorities that began in the late 19th century and solidified in the welter of new nation-states after World War I. Alys reminder of the usefulness of taking a close look at the quiet horrors of Europes interwar years feels all the more valuable today, Steven J. Zipperstein writes in his review. And his acknowledgment that comparisons between now and then once the province of the ill-informed deserve more serious attention from historians and others is just one of many reminders as to how far weve stumbled into an age of troubled sleep.

DIRT: Adventures in Lyon as a Chef in Training, Father, and Sleuth Looking for the Secret of French Cooking, by Bill Buford. (Knopf, $28.95.) Buford, whose last book was about Italian food, here delivers a delightful exploration of his immersion in French cuisine and its soul. This book may well be an even greater pleasure than its predecessor, Lisa Abend writes, reviewing it alongside two other culinary memoirs. He tangles with the btes noires of every Anglophone in France the language, the bureaucracy, the arrogance and embarks, to the great nationalistic dismay of all around him, on a quixotic investigation to prove an Italian origin theory for pot au feu and other French classics.

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10 New Books We Recommend This Week - The New York Times

Potential Impact of COVID-19 on Direct-to-consumer Genetic Testing Market Growth, Size, Share and Forecast 2020-2059 Aminet Market Reports -…

Direct-to-consumer Genetic Testing Market Insights 2018, is a professional and in-depth study on the current state of the global Direct-to-consumer Genetic Testing industry with a focus on the Global market. The report provides key statistics on the market status of the Direct-to-consumer Genetic Testing manufacturers and is a valuable source of guidance and direction for companies and individuals interested in the industry. Overall, the report provides an in-depth insight of 2018-2025 global Direct-to-consumer Genetic Testing market covering all important parameters.

The report on the Direct-to-consumer Genetic Testing market provides a birds eye view of the current proceeding within the Direct-to-consumer Genetic Testing market. Further, the report also takes into account the impact of the novel COVID-19 pandemic on the Direct-to-consumer Genetic Testing market and offers a clear assessment of the projected market fluctuations during the forecast period. The different factors that are likely to impact the overall dynamics of the Direct-to-consumer Genetic Testing market over the forecast period (2019-2029) including the current trends, growth opportunities, restraining factors, and more are discussed in detail in the market study.

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The report provides a basic overview of the Direct-to-consumer Genetic Testing industry including its definition, applications and manufacturing technology.

The report explores the international and Chinese major industry players in detail. In this part, the report presents the company profile, product specifications, capacity, production value, and 2018-2025 market shares for each company.

Through the statistical analysis, the report depicts the global total market of Direct-to-consumer Genetic Testing industry including capacity, production, production value, cost/profit, supply/demand and Chinese import/export.

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There are 3 key segments covered in this report: competitor segment, product type segment, end use/application segment.

For competitor segment, the report includes global key players of Direct-to-consumer Genetic Testing are included:

Regional and Country-level AnalysisThe report offers an exhaustive geographical analysis of the global Direct-to-consumer Genetic Testing market, covering important regions, viz, North America, Europe, China, Japan, Southeast Asia, India and Central & South America. It also covers key countries (regions), viz, U.S., Canada, Germany, France, U.K., Italy, Russia, China, Japan, South Korea, India, Australia, Taiwan, Indonesia, Thailand, Malaysia, Philippines, Vietnam, Mexico, Brazil, Turkey, Saudi Arabia, UAE, etc.The report includes country-wise and region-wise market size for the period 2015-2026. It also includes market size and forecast by each application segment in terms of revenue for the period 2015-2026.Competition AnalysisIn the competitive analysis section of the report, leading as well as prominent players of the global Direct-to-consumer Genetic Testing market are broadly studied on the basis of key factors. The report offers comprehensive analysis and accurate statistics on revenue by the player for the period 2015-2020. It also offers detailed analysis supported by reliable statistics on price and revenue (global level) by player for the period 2015-2020.On the whole, the report proves to be an effective tool that players can use to gain a competitive edge over their competitors and ensure lasting success in the global Direct-to-consumer Genetic Testing market. All of the findings, data, and information provided in the report are validated and revalidated with the help of trustworthy sources. The analysts who have authored the report took a unique and industry-best research and analysis approach for an in-depth study of the global Direct-to-consumer Genetic Testing market.The following players are covered in this report:23andMeMyHeritageLabCorpMyriad GeneticsAncestry.comQuest DiagnosticsGene By GeneDNA Diagnostics CenterInvitaeIntelliGeneticsAmbry GeneticsLiving DNAEasyDNAPathway GenomicsCentrillion TechnologyXcodeColor GenomicsAnglia DNA ServicesAfrican AncestryCanadian DNA ServicesDNA Family CheckAlpha BiolaboratoriesTest Me DNA23 MofangGenetic HealthDNA Services of AmericaShuwen Health SciencesMapmygenomeFull GenomesDirect-to-consumer Genetic Testing Breakdown Data by TypeDiagnostic ScreeningPrenatal, Newborn Screening, and Pre-Implantation DiagnosisRelationship TestingDirect-to-consumer Genetic Testing Breakdown Data by ApplicationOnlineOffline

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Potential Impact of COVID-19 on Direct-to-consumer Genetic Testing Market Growth, Size, Share and Forecast 2020-2059 Aminet Market Reports -...

Fighting The COVID-19 Fire With Molecular Diagnostics, New IDTechEx Report on Innovations – P&T Community

BOSTON, April 28, 2020 /PRNewswire/ -- In their brand new report "COVID-19 Diagnostics", global market research firm IDTechEx benchmarked more than 100 commercial devices across various technologies, providing a deep insight into the technology trends and biotech innovations surrounding the COVID-19 global response. For more information on this report, please visit

"You cannot fight a fire blindfolded. And we cannot stop this pandemic if we don't know who is infected. We have a simple message for all countries: test, test, test. Test every suspected case" - Dr Tedros Adhanom Ghebreyesus, Director-General, World Health Organization (WHO).

Viruses were once known as "contagious living fluids", strange infectious substances capable of slipping through the finest of filters unnoticed. SARS-CoV-2, the coronavirus responsible for the COVID-19 pandemic is indeed slipping through every layer of society, leaving behind severe public health and economic crises. Unlike in the influenza pandemic in 1918, today we are better equipped to identify the elusive bug.

Since the full genome sequencing of the SARS-CoV-2, many national laboratories have identified the regions of the genome amenable for genetic testing. The golden standard adopted by national laboratories around the world following the WHO protocol to detect the virus in individuals, is based on detecting genetic material specific to SARS-CoV-2 viruses in a person's nasopharyngeal secretions. The main tool for such genetic tests is the Reverse Transcription Polymerase Chain Reaction (RT-PCR). Primer strands that hybridise specifically to the SARS-CoV-2 genome, together with fluorescent probes, help amplify and detect the viral load present in a patient. RT-PCR, normally performed in a real-time quantitative qRT-PCR machine for live fluorescent read-out, constitutes the core element of the testing effort being deployed at the moment across the globe. Clinical laboratories with the necessary equipment and technical know-how to perform RT-PCR are leading this diagnosis effort.

However, not all countries are prepared, neither logistically or with enough equipment and capacity. An important bottleneck is the short supply of certain ancillary reagents, such as RNA extraction kits. The shortage of such supplies and long processing time, has led to many laboratories to try to circumvent some steps in the protocol and to come up with new approaches to reach the testing targets that have been set by policymakers and healthcare officials.

The need for universal and massive testing across the population has led to a race for technology innovations for COVID-19 diagnostics. Point-of-care molecular diagnostics (POC MDx) are portable devices that perform molecular diagnosis away from central labs. Microfluidics is the key technology behind POC MDx, which controls the motion of small amounts of fluids in microchannels. Microfluidic cartridges enable the miniaturisation of devices and introduces automation in the sample handling and detection processes. Some POC MDx devices use isothermal amplification of nucleic acid as an alternative to PCR devices. Isothermal amplifaction bypasses the need of thermal cycling and reduces the detection time to just 5 min. Various isothermal amplifaction methods have been adopted for COVID-19 diagnostics. Complex design and unspecific amplification hinder the widespread use of this method. "COVID-19 Diagnostics" provides a deep insight and comparison into the technologies, innovations and current progress on POC MDx and isothermal amplification.

Apart from the time consuming thermal cycling, real-time fluorescent detection is another limitation for low-cost and portable diagnosis tools. Lateral flow assays, electrochemical detection and microbead-based arrays are integrated with PCR to detect the amplified genetic products. These hybrid systems enable faster, cheaper and palm-size devices at the expense of sensitivity and specificity. More recently, CRISPR-Cas (gene-editing tool based on speficifc gene recognition) and DNA sequencing techniques show the potential for highly sensitive and selective hybrid systems, as highlighted in "COVID-19 Diagnostics". For more information on this report, please visit or for the full portfolio of medical technology research available from IDTechEx please visit

Resonating with the message of the WHO director general: "test, test and test", these innovations offer the tools to stop the current outbreak, as well as to prevent future outbreaks, by effective diagnostics and surveillance testing.

IDTechEx guides your strategic business decisions through its Research, Consultancy and Event products, helping you profit from emerging technologies. For more information on IDTechEx Research and Consultancy, contact or visit

Media Contact:Jessica AbineriMarketing Coordinator

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Fighting The COVID-19 Fire With Molecular Diagnostics, New IDTechEx Report on Innovations - P&T Community

Genetic testing helps find cancer possibilities: Waco nurse dealt with breast cancer caused by mutation – Waco Tribune-Herald

Shawnna Latino had few concerns as she awaited the results of her biopsy for breast cancer in 2015. After all, she was a registered nurse who understood the ramifications of the disease, and she had done all the right things regular self-examinations and never-missed yearly mammograms.

So when a mammogram detected calcifications in one of her breasts, she thought they were simple benign calcium deposits.

When the results came back from the biopsy, I was shocked, she said. She had tested positive for breast cancer.

The diagnosis was particularly troubling because of Shawnnas family medical history, which is fraught with cancer. Her mother at age 70 had been diagnosed with breast cancer just eight months before her daughters test results.

At the same time, Shawnnas brother was battling aggressive prostate cancer, which eventually took his life. Their maternal grandmother had died of cancer, as had the grandmothers five sisters. A maternal aunt had died of pancreatic cancer, and her daughter, Shawnnas cousin, was diagnosed with the same disease soon afterward.

Shawnna Latino with her mom, Dietra Dede Lucas (left), and her daughter, Bailee Norris, during Shawnnas chemo and radiation treatment.

When Shawnna consulted with her oncologist, Dr. Thomas J. Harris at Texas Oncology in Waco, he wanted to conduct genetic testing, something that is done as needed at the oncology clinic.

She thought it unlikely that she might have a gene mutation, which can indicate a high risk of breast and ovarian cancer as well as other cancers. The mutation affects only a small percentage of the population.

However, once more, Shawnna found herself with a positive test result, this time for mutation of the BRCA-2 gene.

I never imagined it would be positive, she said.

They then tested her mother and discovered the same genetic problem. The women found out later that Shawnnas maternal cousin was in the same boat. She has the exact mutation that my mom and I have, she said.


BRCA 1 & 2 are tumor suppressor genes that prevent uncontrolled cell growth and help keep normal cells from becoming cancerous. If either is mutated, a woman will have a 40-70% risk of having breast cancer and 27-44% chance of ovarian cancer during her lifetime.

In men, such mutations can result in male breast cancer (6% risk) or prostate cancer (20%). Both genders are also at risk for melanoma and pancreatic cancer.

Just as troubling, if not more so, is the fact that people of either gender with the mutation have a 50% chance of passing it to their children, which keeps the cancer cycle going throughout generations.

The last thing you want to do is pass it on to your child, Shawnna said. Her biggest fear was that her daughter, Bailee Norris, may have inherited the mutation. However, genetic testing showed that Bailee had not, a great relief to her mother.

Dr. Carlos Encarnacin, breast cancer and genetics specialist at Texas Oncology, said, Cancer is a genetic disease, but it is not always inherited.

Most cancers are sporadic, he said, caused by lifestyle choices like smoking or other unknown factors, but some develop through a mutated gene (like BRCA) inherited from either parent.

Dr. Carlos Encarnacin, a breast cancer and genetics specialist at Texas Oncology, says genetic testing has become an integral part of oncology.

The doctors at Texas Oncology treat all types of cancer using radiation and drugs, but they also work to identify cancer risks in a timely manner.

Our focus is early detection and prevention, Encarnacin said.

A person considered at high probability because of family history or other factors should have a risk assessment, starting with an interview and an estimation of risk. If testing is deemed necessary, a blood or saliva test can be done to see if theres a mutation. The price of testing has gone down dramatically, and insurance often covers the cost or at least part of it.


Is genetic counseling important for much of the population?

Absolutely, Encarnacin said. If a patient had cancer or has family history of cancer, he or she should have a risk evaluation and maybe genetic testing.

He suggests that people discuss this with their family doctor and be referred to a specialist if necessary. Its important that the counseling and testing be administered by those who are specifically trained for it.

Genetics has become an integral part of oncology, and it will keep changing over time, he said. Researchers found the first cancer-related gene, BRCA-1, in the mid-1990s, but new genes related to various types of cancer are being identified regularly.

Reduction of cancer risk in BRCA carriers can be achieved in a couple of ways, including hormone blocker pills or preventative mastectomies.

However, he said of the mastectomy, Not everyone with a BRCA mutation has to choose that. They may prefer an enhanced cancer surveillance program.

Women with BRCA mutations who do not intend to have more children should strongly consider having their ovaries removed to lessen their chance of a deadly ovarian cancer, Encarnacin said.


For Shawnna, when she learned of her breast cancer and gene mutation, the choice was clear. Though the cancer was only in one breast, she said, I decided to have both removed and be done with it.

After surgery for the removal and reconstruction, she went through chemo and radiation treatments, continuing to work as a nurse every day except for Wednesdays, her treatment days.

I think that had a lot to do with my well-being, she said.

Genetic testing showed that Shawnna Latinos mom Dietra Dede Lucas also has a gene mutation, but her daughter Bailee Norris does not.

Later that year, she had a complete hysterectomy to reduce the risk of ovarian cancer.

Because she has the BRCA mutation, she is screened each year for pancreatic cancer and also must be seen by a dermatologist once a year to check for melanoma.

In the meantime, Shawnna and her husband, dentist Chad Latino, and children Bailee, Aidan and Tristan are moving on with life by enjoying every day to the fullest. And, along with friends and business partners Scott and Michelle Irwin, they have begun a new enterprise.

The four of them will be keeping their current jobs but are planning to open a hatchet-throwing business whenever the current pandemic subsides. Stumpys Hatchet House, which is in a Waco historic building at 924 Austin Ave., was due to open before the coronavirus hit.

With a laugh, she says of the venture, It was kind of a coincidental thing. Sure, we said. We all have full-time jobs. Lets start a business!

Shawnna has a joyful attitude that is apparent. Of her cancer experiences, she said, There were so many blessings in that journey. I never asked why me? It was always why not me?

She considers genetic testing essential.

Its so important to know your health history and your family history, she said. It can save your life. Knowledge is power, and its very empowering to know about yourself.

As Shawnna found out, sharing your medical history with family is also highly important to alert others to possible inherited genetic mutations.

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Genetic testing helps find cancer possibilities: Waco nurse dealt with breast cancer caused by mutation - Waco Tribune-Herald