Archive for the ‘Genetic Testing’ Category

Most genetic tests focus on your odds of developing certain diseases or health conditions. But some known as pharmacogenomic (or pharmacogenetic) tests can reveal how your body may respond and react to different medications. To date, researchers have identified more than 400 genetic variations known to affect the metabolism of numerous drugs, including some that help lower cholesterol or prevent blood clots (see "Pharmacogenomics of common heart drugs").

In theory, knowing how people metabolize specific drugs could help doctors choose the safest, most effective treatment for their patients. But in practice, it's not that straightforward, says Dr. Jason Vassy, assistant professor of medicine at Harvard Medical School and a primary care physician at the VA Boston Healthcare System.

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Genetic testing to tailor heart drug prescriptions? - Harvard Health - Harvard Health

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J Surg Oncol. 2021 Mar 18. doi: 10.1002/jso.26372. Online ahead of print.

ABSTRACT

BACKGROUND: Genetic testing for hereditary breast cancer has implications for breast cancer decision-making. We examined genetic testing rates, factors associated with testing, and the relationship between genetic testing and contralateral prophylactic mastectomy (CPM).

METHODS: Patients with breast cancer (2000-2015) from The Health of Women Study were identified and categorized as low, moderate, or high-likelihood of the genetic mutation using a previously published scale based on period-relevant national guidelines incorporating age and family history. Genetic testing and CPM rates were compared using univariate and multivariate logistic regression.

RESULTS: Among 4170 patients (median age 56-years), 38% were categorized as high-likelihood of having a genetic mutation. Among high-likelihood women, 67% underwent genetic testing, the odds of which were increased among women of higher-education and White-race (p < .001). Among 2028 patients reporting surgical treatment, 385 (19%) chose CPM. CPM rate was highest among mutation-positive women (41%), but 26% of women with negative tests still underwent CPM. Independent of test result, genetic testing increased the odds of CPM on multivariate analysis (adjusted-OR: 1.69; 95% CI: 1.29-2.22).

CONCLUSIONS: Genetic testing rates were higher among women at high-likelihood of mutation carriage, but one-third of these women were not tested. Racial disparities persisted, highlighting the need to improve testing in non-White populations. CPM rates were associated with mutation-carriage and genetic testing, but many women chose CPM despite negative testing, suggesting that well-educated women consider factors other than cancer mortality in selecting CPM.

PMID:33735483 | DOI:10.1002/jso.26372

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Genetic testing and surgical treatment after breast cancer diagnosis: Results from a national online cohort - DocWire News

This article was originally published here

J Genet Couns. 2021 Mar 21. doi: 10.1002/jgc4.1413. Online ahead of print.

ABSTRACT

Clinical guidelines recommend that women at high risk of breast cancer should consider various risk-management options, which remain widely underutilized. We conducted semi-structured, qualitative interviews with 50 high-risk women to understand how financial constraints affect use of genetic counseling, genetic testing, and further risk-management decisions. Inductive analyses revealed three categories of health-related financial constraint: (a) lack of insurance, (b) underinsurance, and (c) other financial constraints (e.g., medical debt, raising children, managing comorbidities). Various breast cancer risk-management actions were limited by these financial constraints, including genetic counseling, genetic testing, enhanced screening, and prophylactic surgeries. Womens narratives also identified complex relationships between financial constraint and perceptions of healthcare providers and insurance companies, particularly as related to bias, price transparency, and potential genetic discrimination. Results from this study have implications for further research and expansion of genetic counseling services delivery to more economically and racially diverse women.

PMID:33749063 | DOI:10.1002/jgc4.1413

Excerpt from:
Financial constraints on genetic counseling and further risk-management decisions among U.S. women at elevated breast cancer risk - DocWire News

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Key Companies Operating in this MarketAbbott LaboratoriesBio-Rad Laboratories, Inc. (RainDance Technologies, Inc.)Myriad Genetics, Inc. (Myriad RBM, Inc.)Danaher Corporation (Cepheid)F. Hoffmann-La Roche Ltd.Eurofins ScientificIllumina, Inc.Qiagen N.V.Thermo Fisher Scientific, Inc.CSL Ltd

Market By TypePredictive & Presymptomatic TestingCarrier TestingPrenatal & Newborn TestingDiagnostic TestingPharmacogenomic TestingOthers

Market By TechnologyCytogenetic TestingBiochemical TestingMolecular Testing

Market By ApplicationCancer diagnosisGenetic Disease DiagnosisCardiovascular Disease DiagnosisOthers

A competitive analysis is done in the report. This competitive analysis provides an insightful data on the market leaders in the industry. The intension is to help the clients to know about the existing market players as well as potential market entrants of the industry. The report is made in a way such that the clients can not only make proper decisions regarding the industry but also can make stable growth in the industry in the long run. The aim is to direct the clients towards the steady progress of their growth in the industry. There are many contents in the report like networking and distribution strategies, revenue shares in the market,companies with their profiles and comprehensive profiles of their offerings and many more.

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An insight into the market size and growth 2020-2027 CAGR: 2020 to 2027, calculating 2019 as the base year Detail information about the dominant players in this segment Demand and supply chain mapped to clearly evaluate the market Apart from primary and secondary research methodology, data triangulation method is used for a clear understanding of the report Analysis by Industry expert

Kindly contact us and our expert will get back to you within 30 minutes:Decisive Markets InsightsSunil KumarSales HeadEmail [emailprotected]US +18317045538UK +441256636046

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Genetic Testing Market to Observe Positive Growth | Players Illumina, Inc., Qiagen NV, Thermo Fisher Scientific, Inc., CSL Ltd KSU | The Sentinel...

ROCKVILLE, Md., March 24, 2021 /PRNewswire/ --To support quality improvement (QI) projects in colorectal cancer, the Association of Community Cancer Centers (ACCC) has joined with Pfizer Global Medical Grants to issue a Request for Proposals (RFP) with the intent of funding QI initiatives that focus on the integration of biomarker testing into the treatment planning for patients with metastatic colorectal cancer (mCRC). The RFP seeks individual grant requests up to a maximum of $150,000. In total, Pfizer will provide $1.5 million in funding for these quality improvement grants.

"Efficient processes for the timely integration of molecular biomarker and genetic testing is increasingly recognized as a component of metastatic colorectal cancer care," said Advisory Committee Member Al B. Benson III, MD, FACP, FASCO, Professor of Medicine; Associate Director for Cooperative Groups Robert H. Lurie Comprehensive Cancer Center of Northwestern University, Chicago, IL. "Through this grant program, ACCC member programs and practices are offered a significant opportunity to submit proposals to expand understanding and explore approaches for patient care in colorectal cancer."

In a survey of practitioners conducted by ACCC to assess the status of biomarker testing in patients with unresectable or mCRC, over 70% of respondents reported that more than half of their patients undergo biomarker testing. Fifty-two percent of respondents (52%), however, indicated that their cancer program has no standard biomarker testing protocol for patients with unresectable or mCRC. Over 40% of respondents reported that patients with mCRC who have had biomarker testing are treated with systemic medical therapy "frequently" or "almost always" before all biomarker test results are available.

Survey respondents reported that challenges to the optimal use of biomarker testing in this population include patient factors such as patients' general health and physical fitness, patient preference, insurance coverage, clinical trial eligibility, and age. There are also practice-level factors including insufficient tissue for testing, poor tissue quality, long turn-around time, patient refusal, quality of in-house testing, difficulty getting reimbursed, lack of availability of in-house testing, no access to molecular tumor board(s), and inadequate staffing.

Access the survey summary on the ACCC website at http://accc-cancer.org/colorectal-survey-summary.

The opportunity to submit a proposal in response to the RFP is only available to ACCC-member cancer programs and practices. Grant requests should describe concepts and ideas for design and implementation of systems or programs that will close clinical practice gaps related to biomarker testing in patients with mCRC through establishment of education and support mechanisms for community providers.

The RFP process has two stages. Stage one is submission of a three-page letter of intent (LOI). If the LOI is selected, the applicant will be invited to submit a full proposal. Deadline for LOI submission is May 12, 2021.

For more information and to view the RFP, visit https://www.accc-cancer.org/projects/colorectal-cancer/overview.

About the Association of Community Cancer Centers

The Association of Community Cancer Centers (ACCC) is the leading education and advocacy organization for the cancer care community. Founded in 1974, ACCC is a powerful network of 28,000 multidisciplinary practitioners from 2,100 hospitals and practices nationwide. As advances in cancer screening and diagnosis, treatment options, and care delivery models continue to evolve - so has ACCC - adapting its resources to meet the changing needs of the entire oncology care team. For more information, visit accc-cancer.org or call 301.984.9496. Follow us on Facebook, Twitter, and LinkedIn; read our blog, ACCCBuzz; and tune in to our podcast, CANCER BUZZ.

SOURCE ACCC

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Association of Community Cancer Centers and Pfizer Offer Grant Opportunities Focused on Improving Quality of Metastatic Colorectal Cancer Care Through...

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Predictive Testing, Consumer Genomics, Wellness Genomics

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Global Predictive Genetic Testing & Consumer/Wellness Genomics Market Comprehensive Analysis on types and application 2020-2026 - The Courier

Army Veteran Keisha Bellamy begins each day with a cup of coffee, opens her laptop and logs in to Zoom.

She facilitates a six-week course on healthy living for Veterans, and on one particular morning, one woman in the group was struggling. The Veteran lives with post-traumatic stress disorder, and was feeling defensive, disrupting the group conversation.

Bellamy has seen these actions before in others. As a registered nurse with a background in mental health nursing, she redirects the conversation with skill and compassion.

You see, at VA we offer a safe haven to Veterans like this woman who others might dismiss or find difficult to work with in a group setting, Bellamy says. Thats because many employees at VA are Veterans. We see ourselves in our patients and they see themselves in us.

After six weeks, the Veterans graduate with new skills and goals for managing chronic illness. They also finish the course as comrades in healthier living, offering each other friendship and support as they manage their illness together.

For Bellamy, this is the best part of her job.

Bellamy has 15 years of service at VA with the last two years at the San Francisco VA Healthcare System. There, she oversees programs in health promotion and disease prevention.

To encourage Veterans to sign-up, its important to be a good role model, Bellamy says. You have to build relationships and practice what you preach.

So, every week before the pandemic, Bellamy would unroll her yoga mat and go into downward-facing dog with fellow Veterans at a community yoga studio. Afterward, she would chat with classmates and tell them about other health and wellness programs at San Francisco VA.

And when VAs Million Veteran Program launched in 2011, Bellamy was one of the first to enroll.

The program collects a blood sample from participating Veterans for genetic testing along with information on their health, lifestyle and military exposures to better understand disease in Veteran populations.

With this data, the program supports groundbreaking research in precision medicine that will one day offer Veterans the personalized care they deserve.

Being part of MVP allows me to explain what its like to enroll and be part of the program, says Bellamy, who is now joined by 830,000 fellow Veterans in what has become one of the largest genetics research programs in the world.

Bellamy has a connection with Veterans that other colleagues do not. As a Black female health care provider, Black Veterans in the Bay Area feel heard and understood by her.

Its rare for patients of color to see someone on the clinical side who looks like them, especially on the West Coast, Bellamy says. And theres still some concern as it relates to research, she adds.

While MVP has the largest Black cohort of any genetic research study approximately 19% of Veterans in the program are African American the program aims to increase diversity so it can support groundbreaking discoveries for Veterans of all genders and races.

She hopes her participation in MVP will show Veterans of color, especially women Veterans like herself, that this research is safe and valuable.

Its important that women and people of color are represented if we also want tomorrows medicine, Bellamy says. Our community and the future of their health care depends on our participation.

To learn more about VAs Million Veteran Program, visit mvp.va.gov or call 866-441-6075.

Sandra Glover is the chief communications officer forVISN 9.

Excerpt from:
Army Veteran a champion for health and research - VAntage Point - VAntage Point Blog

But new scientific evidence suggests that's not what happened.

Genomic testing shows at least two of the Australian's babies likely died from a previously undiscovered genetic mutation that led to heart complications -- meaning she may have been wrongfully imprisoned for almost two decades.

The ramifications don't end there.

Early years

In the late 1980s, she married Craig Folbigg, who she had met at a disco in the Australian city of Newcastle. They had their first child when she was 21, a boy named Caleb.

Folbigg soon fell pregnant again, and in 1990 she had another son, Patrick. Tests showed he was normal and healthy. But at four months, he had an unexplained ALTE, an apparent life-threatening event, that left him with brain damage and seizures. Four months later, he died as a consequence of seizures.

Her third child, Sarah, died age 10 months -- her cause of death was listed as SIDS. When her fourth daughter, Laura, died age 18 months on March 1, 1999, police started investigating.

The couple's marriage broke down. After Folbigg left, her husband found her diary and read an entry that he said made him want to vomit. He took the diary to police on May 19, 1999, according to the inquiry.

On April 19, 2001, Folbigg was arrested and charged with four counts of murder.

Her childhood best friend Tracy Chapman describes Folbigg as a caring animal lover who was a "really good mom." But at trial in 2003, the prosecution argued Folbigg had smothered her children. There was no conclusive forensic proof -- instead, the prosecution relied on a maxim credited to British pediatrician Roy Meadow: "One sudden infant death is a tragedy, two is suspicious and three is murder, until proven otherwise."

The prosecutor compared the chance of the children dying of natural causes to pigs flying.

"I can't disprove that one day some piglets might be born with wings and that they might fly. Is that some reasonable doubt? No," the prosecutor told the jury during the 2003 trial. "There has never ever been before in the history of medicine that our experts have been able to find any case like this. It is preposterous. It is not a reasonable doubt. It is a fantasy and, of course, the Crown does not have to disprove a fanciful idea."

The prosecution pointed to Folbigg's journals, which they said contained virtual admissions of guilt.

"I feel like the worst mother on this Earth, scared that (Laura) will leave me now, like Sarah did. I knew I was short tempered and cruel sometimes to her and she left, with a bit of help," Folbigg wrote in one. "It can't happen again. I'm ashamed of myself. I can't tell (my husband) about it because he'll worry about leaving her with me."

Folbigg didn't confess, there was no obvious motive, and no one claimed to have seen her murder her children. But the jury found her guilty of the murder of three children and the manslaughter of one.

Folbigg was eventually sentenced on appeal to 30 years in prison with a non-parole period of 25 years. By the time she is eligible for parole, Folbigg will be 60 years old.

The fight to get her out

In 2015, with her appeals exhausted, Folbigg's lawyers submitted a petition to the governor of New South Wales, asking him to direct that an inquiry be held into her convictions. The lawyers argued new evidence had come to light since her unsuccessful appeals -- including a growing understanding of SIDS -- that lead to a "feeling of disquiet" over her convictions. If the former NSW District Court chief judge Reginald Blanch, who headed the inquiry, agreed, he could refer the case back to the Court of Criminal Appeal.

As part of that inquiry, Folbigg's legal team approached Prof. Carola Vinuesa, co-director of the Centre for Personalised Immunology at Australian National University, to ask her to sequence the children's genomes to see if there was a genetic mutation that could have caused SIDS.

"There was a chance -- even though it might be a long shot -- that (Folbigg) was carrying something that might be passed on to the children," Vinuesa said. "To my knowledge, this is the first case in which a court (anywhere in the world) has used whole genome sequencing to find evidence of a cause of death."

When they sequenced the genomes of all four children, they found both daughters carried the same CALM2 mutation as their mother.

After the inquiry had closed, more evidence came to light, prompting Vinuesa and her team to write to the judge telling him it was likely the daughters died as a result of the variant. Despite the new finding, Judge Blanch opted not to reopen the inquiry. After taking all the evidence -- including the diaries -- into account, Blanch said he remained of the view Folbigg had smothered Sarah and Laura.

New developments

Last November, scientists published even more compelling evidence.

Led by Danish professor Michael Toft Overgaard, a team of experts across six countries found the CALM2 variant in Folbigg and her two girls could cause disease -- just like other CALM2 variants.

They concluded the variant altered the girls' heart rhythm, making them susceptible to heart conditions -- particularly given the medication they were given. Sarah was on antibiotics for a cough, while Laura was being treated with paracetamol and pseudoephedrine for a respiratory infection shortly before she died. Laura had inflammation of the heart when she died to the extent that three professors said they would have listed it as her cause of death.

"To my knowledge, this is the first case in which a court (anywhere in the world) has used whole genome sequencing to find evidence of a cause of death."Professor Carola Vineusa

In both of the boys, scientists found other variations in their BSN, also known as Bassoon, genes -- one variant had been inherited from their mother, and the other likely from their father, although he refused to provide a sample to the researchers. When both copies of the BSN gene are defective in mice it can cause them to die young during epileptic fits. Scientists are still investigating whether this variant could have caused the two boys' deaths. Patrick experienced seizures before he died.

Only 75 people in the world are known to carry mutations in their CALM1, CALM2 or CALM3 genes that have been shown to be lethal in children. But while genetic mutations that cause SIDS may be rare in the general population, once a parent has a genetic mutation there is a high chance of them passing it on, Vinuesa says.

"In the end it's not about these variations being very rare in the world, it's about the chances of Kathleen meeting someone like Craig and having this combination of mutations between both of them. Once genetics come into play, statistics go out the window," Vinuesa added.

Vinuesa said the case shows that contrary to what was suggested at trial, there doesn't need to be one explanation for all four of the deaths.

"The pathology already told us there were different causes," Vinuesa said.

The research hasn't yet freed Folbigg, but it has already had an impact. Folbigg's lawyers launched a case in the New South Wales Court of Appeal, arguing that the commissioner of the 2019 inquiry incorrectly applied the law to his decisions. The genome findings also prompted a petition with more than 90 signatures to the New South Wales governor earlier this month.

"It is deeply concerning that medical and scientific evidence has been ignored in preference of circumstantial evidence. We now have an alternative explanation for the death of the Folbigg children," Prof. Fiona Stanley, who has been recognized for her work on child health, said in a statement at the time of the petition.

"The reality is, Kath's lost four children. And she hasn't been allowed to grieve as a mother should."Tracy Chapman

A spokesperson for Gov. Margaret Beazley said the state's attorney general is considering the petition and will advise her. According to New South Wales' Department of Communities and Justice, few people have ever received a pardon by the state.

Even if Folbigg is freed, her legal fight may not be over. She will need to go to the Court of Criminal Appeal to get her conviction overturned if she wants to clear her name -- and it will be another legal matter again if she wants to get compensation for the years she's spent in prison.

For Folbigg, the research offers some hope -- but it was also emotional for her to hear, says Chapman, who talks to Folbigg every day.

"You're being told potentially the thing that you carried has been passed onto the children. So that's emotionally quite heart-wrenching," Chapman said. "The reality is, Kath's lost four children. And she hasn't been allowed to grieve as a mother should."

Science in the court room

Folbigg's case is part of a bigger picture -- a growing understanding of SIDS, a changing view about what multiple deaths in a family means, and a wider criticism of how science is presented in the courtroom.

Much of Folbigg's conviction was based on a maxim credited to Meadows that three infant deaths are murder, unless proven otherwise -- a maxim that had already started to draw skepticism.

"In our community, and in any civilized community, that is abhorrent."

In a similar case to Folbigg's, Australian woman Carol Matthey was accused of murdering her four children between 1998 and 2003, but the case against her was dropped due to a lack of evidence -- even though the same experts that testified against Folbigg were set to do so against Matthey.

Gary Edmond, a law professor at the University of New South Wales who is an expert in trial evidence and forensic science, said it was unfortunate Folbigg went to trial when she did. If she was tried a few years later, when the doubt over Meadow's maxim was better established, the courts might have been more cautious about admitting the expert evidence used to convict her, he said.

But even now, the way Australian courts handle evidence is outdated -- and lagging behind United States, Canada, New Zealand and the United Kingdom, Edmond said. While other jurisdictions assess whether science is reliable before it comes to court, Australia's system leaves it up to the juries to decide what's valid. That's a problem because juries don't have enough knowledge to make complex scientific judgments, Edmond said.

Folbigg's lawyer Rhanee Rego -- who has been working on her case for almost five years unpaid -- agrees courts need to be careful about which experts are allowed to give evidence. "I think that one of the biggest lessons we can take from this case is that we need to listen more carefully in the legal system to peer-reviewed and evidence-based science and medicine," she said.

Genetic answers

The advances in genetic testing -- including the findings in Folbigg's case -- could also help give answers for others dealing with the unexplained deaths of their children.

Vinuesa says it's likely that in the next few years, other families who have experienced SIDS will find a genetic mutation is to blame.

"We need to listen more carefully in the legal system to peer reviewed and evidence-based science and medicine."Rhanee Rego

"In most families where there have been SIDS deaths, nobody has yet gone back and sequenced the genomes of the children," she said. As molecular autopsies become more common, she thinks there will be more genetic explanations for otherwise unexplained deaths.

That could help families looking for answers -- and also help those worried about being targeted by the law.

"Many families live in fear, because they've had two or more children dying and they're worried that one day someone will be knocking at their door with some type of police investigation," she said. "We know now that when you have a genetic condition ... it's not rare."

Chapman says her childhood friend hopes her case helps other parents explain otherwise unexplainable deaths.

"It's not just about having Kath free," Chapman says. "The most important thing after Kath is freed is that this never happens to anybody else ever again."

View original post here:
Genetics may free a woman convicted of killing her 4 babies and help other parents explain the unexplainable - CNN

The results showed that in half of patients with cancers of unknown origin, next-generation sequencing located the primary site of origin and, in those who were matched to a therapy, half achieved a clinical benefit.

New study results support the use of next-generation sequencing (NGS) as standard-of-care (SoC) in patients with advanced solid tumors, particularly for certain groups.

Appearing in JAMA Oncology,1 results showed that in half of patients with cancers of unknown origin, NGS located the primary site of origin and in those who were matched to a therapy, half achieved a clinical benefit.

Based on the data presented by Cobain et al and others, it is evident that such precision medicine strategies are especially fruitful in cancer types without clear standard-of-care options, such as carcinoma of unknown primary and other rare tumors, said researchers in an accompanying editorial.2 Such efforts will allow us to deliver personalized therapies with potential therapeutic benefit to patients and to further refine the development of precision medicine efforts in oncology.

In total, there were 1000 patients included in the study, which analyzed approximately 7 years worth of data.

The findings also have important implications for inheritable cancer risk, as results showed that potentially inheritable cancer risk was detected in 16% of patients. The researchers of the study said this suggests directed germline testing for inherited cancer predisposition in all patients with advanced cancer is warranted.

Any family members who have also inherited those same mutations may be at increased risk for cancer, explained study author Erin Cobain, MD, an oncologist at Michigan Medicine in a press release. So, a lot of this testing prompted downstream genetic testing and counseling across families. Thats how sequencing can have even more far-reaching impact than just looking for therapies to directly help a current patient.

Overall, potentially actionable genomic alterations were identified in approximately 80% of patients. There were 132 patients who underwent sequencing-directed therapy, 20% of whom had exceptional responses and around 40% of whom exhibited any clinical benefit.

However, study authors acknowledged challenges associated with determining the clinical utility of NGS testing in the cancer space, including:

References:

1. Cobain EF, Wu Y, Vats P, et al. Assessment of clinical benefit of integrative genomic profiling in advanced solid tumors. JAMA Oncol. Published online February 25, 2021. doi:10.1001/jamaoncol.2020.7987

2. Yap TA, Johnson A, and Meric-Bernstam F. Precision medicine in oncologytoward the integrated targeting of somatic and germline genomic aberrations. JAMA Oncol. Published online February 25, 2021. doi:10.1001/jamaoncol.2020.7988

More here:
Study Makes the Case for NGS Testing as SoC in Certain Patients With Advanced Cancer - AJMC.com Managed Markets Network

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MILWAUKEE (CBS 58) --- Our genes tell the story of us - who we are at the molecular level.

Recent advances in genetic testing are giving patients and their doctors insight about their bodies that would have been impossible a generation ago.

Joining CBS 58 Morning News is 23-And-Me genetic trends expert Jhulianna Cintron and Marc Lovicott, a Madison man who has benefitted from the technology.

Excerpt from:
Experts say genetic testing can play a role in your overall health and well-being - WDJT

Othman Laraki, the chief executive of Color, is tired of having his company pigeonholed.

Often grouped into the broader personal-DNA-testing space with 23andMe and Ancestry, the company formerly known as Color Genomics now prides itself on its efforts in population health that provide software to public health entities and health systems with genetic screening tests as part of a larger package deal. In January, Color raised $167 million in a Series D round that valued the company at $1.5 billion, giving it "unicorn" status.

"From our perspective, we have actually thought about genetics in a way that's different from almost any other company on the market," Laraki told Insider. "Our business strategy has never been about direct-to-consumer testing."

Before the pandemic, Color had already secured high-profile partnerships including with the National Institutes of Health, Chicago's NorthShore University Health System, and Alphabet's life sciences arm Verily, giving consumers access to genetic testing through hospitals and employers. Color's genetic database that it shares with researchers includes 54,000 individual genomes, according to the company's research arm.

When coronavirus hit the US last March, the Burlingame, California-based company made major pivots to fight the pandemic, starting with offering testing in San Francisco. In September, its self-swab COVID-19 test received the FDA's OK for emergency use.

Expanding on its existing health technology platform, Color now provides the software infrastructure for all of California's COVID-19 testing labs, as well as other major cities, school systems, and corporate employers like Foster Farms. To date, it's processed over 3.5 million COVID-19 tests.

"We're doing what is probably actually the biggest rollout in the country of COVID testing access points," Laraki said, adding that Color has also begun coordinating data for California vaccination sites as part of the statewide vaccination campaign.

With Insider, Laraki went deep on the future of personal genetic testing and how genetics will integrate into a larger push to address population health. Color's expansion into handling logistics and supply chain considerations via software is indicative of the company's shift.

Going forward, Laraki considers Color a health services company that contributes to larger-scale public health initiatives, rather than simply a personal genomics company.

In January 2020, Laraki told Insider that the consumer testing market boom had essentially run its course.

Today, he feels exactly the same. Companies in the space have needed to diversify their offerings, recent 23andMe SPAC deal aside, and Color is no exception.

For Laraki, the pandemic has made him realize Color's main product isn't genetic tests it's the health tech infrastructure. Through software coordinating the collection of health data from typically hard-to-reach communities and genetic screening, he said he believes Color has the ability to increase access to preventive care, a major goal of public health.

When the company began working to deliver and process COVID-19 tests, Laraki said the team realized that the software they had built to process genetic tests could also deliver basic health care services to underserved populations. Color's expansion into health care infrastructure can be seen as part of a broader public health mission, he said, because it expands access to healthcare via technology that will scale faster and become cheaper in the future.

It's not the first time Color has turned to this approach. Color worked with Alaska Railroad Company and the Philadelphia area's Teamsters Health and Welfare Fund to offer genetic testing and follow-up preventive care services to these blue collar workforces. Laraki said that led a huge percentage effectively ended up using Color's tests as effectively a technology-first version of a basic health screen.

"We were able to reach these people that were outside of the healthcare envelope, if you will," Laraki said, with Color's genetic screens providing information and guidance on how to prevent major conditions like cancer, cardiovascular disease, and diabetes.

Right now, Color operates COVID-19 testing for California's K-12 public school system.

"I don't know of any health service that's distributed in 20,000 locations," he said.

To Laraki, the adoption of Color's infrastructure demonstrates that the company can expand by providing basic healthcare access in underserved communities.

Genetic testing can't replace one-on-one interaction with a doctor, Laraki said, but it can supply broad populations with data and an additional, typically more convenient access point for the healthcare system.

For Laraki, genetic testing being a buzzy, highly touted healthcare tool or even a source of "infotainment" is beside the point. Although others in the space like 23andMe have doubled down on personalized drug development, Color's chief executive believes genetic testing's greatest value lies in the fact it serves as an easily scalable, low-cost preventative health measure.

"From my perspective, genomics will have the biggest impact when we forget it's even there," Laraki said. As long as people view genetic tests for high-risk conditions like cancer as a special add-on, that means it's not weaved into a general conceptualization of what constitutes healthcare, he added.

By selling to health systems, public health bodies, and large employers, Color has found an efficient way to get genetic tests in the hands of people in a manner that will hopefully help keep people healthier.

"What Color in particular has been somewhat successful at doing is aligning patients, providers, and payers," said CB Insights analyst Kedar Karkare. Companies like Color and its competitor, Helix, have made the bet that genetic screenings will fundamentally save on long-term disease management.

Thus far, Karkare said he agreed it's paid off. Like other companies that began sequencing people's DNA at large scale, Color hasn't yet shown evidence that its preventive genetic screens are helpful in a primary care setting. Its peer-reviewed publications using its data have contributed to preliminary research on how genetic data correlates with health conditions like cancer and liver failure.

Comparatively, Laraki sees the push into personalized drugs, like 23andMe's partnerships, as feeding into the US healthcare system's acute-care overspending problem.

"I don't think that is the highest value utilization of something like genetics," he said. "I think the biggest value creation that will come out of genetics is going to be in the actual care of people."

According to Karkare, the partnership model that Color has used has more clearly married the goals of public health and for-profit companies, relative to other players in the consumer genomics space hoping to pivot to drug development.

Laraki is firm in his faith that basic genetic screenings will one day become seamlessly integrated into primary care to the point that people will not even care about it or be aware of it.

Though broader consumer DNA testing has raised alarm bells about companies owning and profiting off personal genetic data, he said he believes the larger concern is about health data, more broadly speaking. He pointed to large-scale patient billing information data breaches and STD test results as examples of more alarming data that could fall into the wrong hands.

"Genetics itself, relative to the rest of your health data portfolio, is actually not necessarily the scariest," Laraki said. More harm comes from the right data not being used to help people, he said.

From its start in 2015 at the height of the direct-to consumer DNA testing boom to now, Color has made clear it wants to ensure individual genetic testing is more than just a passing fad. By partnering with both public and private players, Laraki hopes his company will outlive even the very last waves of hype.

Nearly a year into the pandemic, Laraki says COVID-19 has made Color realize that its efforts in preventative health-based genetic testing are part of a larger category of population health and the infrastructure that goes into making that happen.

"What is the approach to make basic healthcare services extremely accessible? I think that's the big transition that we went through last year," he said.

Some of that just happens to involve genetics.

Read the original:
Color's CEO thinks genetics will help expand healthcare access - Business Insider

This article was originally published here

Gynecol Oncol. 2021 Feb 19:S0090-8258(21)00150-5. doi: 10.1016/j.ygyno.2021.02.013. Online ahead of print.

ABSTRACT

OBJECTIVES: Genetic testing (GT) companies have developed patient education videos to supplement or replace pre-test genetic counseling (GC) by certified genetic counselors (CGC). The aim of this study was to assess the quality of these videos compared to the standard of care (SOC).

METHODS: Videos from four major GT companies were selected from an internet search identifying pre-test patient education videos. A scoring rubric with 22 questions and 36 total points was devised to assess quality metrics, as described by the National Cancer Institute and National Society of Genetic Counselors. Twenty-two individuals with varying genetics expertise (3 gynecologic oncologists, 3 academic generalists, 4 CGC, a genetics community health worker, 3 cancer care navigators, and 8 medical students) scored each video. Scorers were blinded to others assessments.

RESULTS: Invitae had the highest median score (26/36), followed by Myriad (22/36), Ambry (17.5/36), and Color (15/36). All videos scored highly in explaining DNA basics, cancer development, and hereditary cancer predisposition. All addressed benefits of GT but failed to address potential disadvantages. All scored poorly in explaining medical terms and different GT options. There was variability in addressing patient concerns including cost, privacy, and procedure.

CONCLUSIONS: There is significant variation in the content of pre-test patient education videos between GT companies. None of the videos met the SOC for pre-test GC, and none addressed disadvantages of GT, possibly due to a conflict of interest. With improvement in content, accessibility, and use of interactive platforms, these videos may serve as an adjunct to in-person pre-test GC.

PMID:33618842 | DOI:10.1016/j.ygyno.2021.02.013

View original post here:
The role of the genetic testing industry in patient education of hereditary cancer: An observational study assessing the quality of patient education...

Most of us go through life thinking were blessedand dingedby the genes weve inherited. Maybe you got your moms gorgeous eyes but also her astigmatism, or you scored the tall-and-slender genes from your fathers side of the family but worry that you also have their predisposition to Alzheimers.

Though we cannot change our genetic makeup, we can positively influence how our DNA gets expressed, says Brandon Colby, M.D., the author of Outsmart Your Genes and a clinical geneticist in Beverly Hills. You can think of your genes like a road map of possible routes, explains Dr. Colby. While your genes may mean your road map has paths that go toward heart disease or Alzheimers, those paths arent set in stonetheyre just possibilities laid out by your genes.

And there are a number of things you can do to program your genetic GPS so it takes you down a road toward health. Most diseases are determined by a combination of genetic and nongenetic factors, which means you can make changes that will minimizeand maybe even eliminateyour chances of contracting diseases for which your genes put you at risk, says Dr. Colby. Its empowering.

Taking what we know about our own genetic predisposition, how can we reroute ourselves so were on a path toward better health and maybe even sidestep issues our parents and grandparents faced? While the majority of our insight comes from genetic research, we are starting to get some guidance from the tens of thousands of studies in the emerging field of epigenetics, which looks at how lifestyle and environment can modify the ways genes function.

Before you take steps that can tweak your gene expression for the better, its important to have a basic understanding of what genes are and how they work beyond giving you traits like eye and hair color.

Heres a fact that will bring you back to Biology 101: Despite how vastly different humans seem from one another, we all inherit the same 20,000-plus genes, all made up of DNA. In every single one of the trillions of cells in your body, your DNA is organized into pairs of chromosomes. While both chromosomes in any given pair contain the same genes, the genetic code within those genes may be slightly different, says Dr. Colby. And when a cell divides, gene mutationsalso known as variantscan come about. Differences within our genetic code are responsible for everything from what we look like to our personality traits to our predisposition to disease, says Dr. Colby.

A rare mutation that occurs in one of the cells that combine to form an embryo, either the egg or the sperm, becomes a new genetic variant that neither parent has, but the child will. That child can then pass it along to future offspring. Sometimes this is a great thing: The fact that our genes have mutated over time is the reason humans have evolved to be smarter and live longer.

On the flip side, sometimes a change in a gene can cause it to wreak havoc, explains Dr. Colby, which is why particular genes are associated with particular diseases. Some changes are prompted by factors such as too much sunlight, poor diet, smoking, and other environmental and lifestyle choiceswhich can lead to diseases like cancer. Other mutations occur as a result of aging or because of occasional mistakes made as the bodys cells go through their normal process of dividing and multiplying. However, these generally dont pose any health risks. Luckily, your body detects and corrects most errorsand even if it doesnt, many gene mutations are harmless and wont affect your health, says Dr. Colby. However, some mutations are harmfuland those are the ones we can now detect and try to outsmart.

Joshua Selsby, Ph.D., a muscle physiologist and a professor at Iowa State University, likes to compare our 20,000 genes to recipes in a big cookbook. While we get our genetic makeup (DNA) from our parents, with fixed ingredients, through lifestyle choices we can exert control over how often we make certain recipes. And while you cant change your cookbook, you can decide which recipes you cook the most.

Say, for example, you exercise regularly. That healthy lifestyle choice is like making a good-for-you recipe over and over againso many times that your cookbook will automatically open to the page for that recipe, says Keith Baar, Ph.D., a professor of molecular exercise physiology at the University of California, Davis. When it comes to the genes you use a lot, its as if youre pushing on your genome like youd push down the pages of the recipes you use repeatedly, he says. Thats a great thing if what youre doing is something positive like exercising or eating 12 servings of fruits and veggies a day, choices that change your genes in helpful ways.

The converse is also true. Things like smoking and sitting for 12 hours a day can push on genes you dont want turned on. How you move, what you eat, and a number of other factors will affect your DNA, says Selsby, which means you can favor the genes that will help you live a long, healthy life and work to suppress the ones that put you at increased risk for disease: While you cant control your genetics, you can impact what you do with those genetics, Selsby says.

With advances in genetic testing, its possible to understand your specific gene mutationsinformation that can help doctors, say, predict your risk of certain diseases and more precisely prescribe medication (you could even be offered truly targeted nutritional recommendations). Yet even most geneticists agree that genetic testing isnt a must for most people, especially because most clinicians wont know how to support you with this kind of precision medicine.

However, a handful of strategies will work across the board to turn on your health- promoting genes and turn off ones that could cause problems. Below are several ideas for how to start.

Amp up your exercise intensity.

You already know that working out is one of the best things you can do for your health, and research shows that exercisespecifically, weight trainingcan actually change your genes so they mimic those of someone much younger. In a study, men and women older than 65 did twice-weekly resistance training for six months. Researchers then compared their muscle tissue to that of a group of 20-somethings, and they found a real change: The older adults genetic fingerprint had actually reversed, reaching levels similar to those seen in the younger adults.

The best way to defeat disease will always be to prevent it.

Cardio workouts are still important too; in fact, when it comes to risk of breast cancer, exercise has been shown to have a significant and positive effect. Doing four or more hours per week of cardio exercise lowers the risk of breast cancer by about 30%, and experts think this is due to changes in the genes themselves. Also, an interesting study on breast cancer survivors suggested that increasing physical activity might affect genes that suppress tumors, which could boost survival outcomes.

Think back to when you were a kidyou probably sprinted as fast as you could, pulled yourself up on the jungle gym, and tried to lift or push heavy things, and all this activity turned certain genes on, says Baar. Doing strenuous activity as an adult sparks your epigenetic memory, prompting those genes that respond well to exercise to respond again.

Keep in mind that the key to triggering this reaction is to stress your body. That means that a couple of times a week you should do activity that goes beyond brisk-walk-around-the-block intensity, adds Baar. If you really push yourself, the genetic response will be bigger.

What we eat serves as an epigenetic signal that can actually prompt changesand these changes adjust important chemical tags on DNA, potentially influencing our health for better or worse.

For example, a diet loaded with refined grains and lacking in fruits and veggies has been linked to DNA changes that stifle gene expression and cause disease. On the other hand, polyphenols (found in fruits, vegetables, green tea, coffee, and red wine) have been shown to reduce DNA damage, ultimately protecting against disease. Its also important to eat foods you enjoy, be conscious of what youre eating, and maintain a caloric intake at or slightly below what you need, Baar says.

When it comes to outsmarting gene mutations that might lead to cognitive decline, exercising your mind on a regular basis is especially important. This has been shown to stimulate the growth of new brain cells and strengthen the synapses between those cellstwo things that keep you sharp as you age. And mental exercises you really enjoy have the added benefit of reducing stress, also key when it comes to programming your genetic GPS.

Playing card games or chess, doing puzzles, attending lectures, learning a new language, and starting a new hobby all count, Dr. Colby says. And the best types of mental exercises appear to be those involving social interaction. A strong social network of friends has also been associated with a protective effect against Alzheimers, possibly because it helps ease stress. Aim to do any of those brain-boosting activities for about an hour three or more times a week.

Many geneticists believe that whole-genome sequencing as a regular part of health care is the wave of the future and that this will ultimately help health care practitioners create a precise personalized medical plan for every patient. But until then, theres still a lot you can do to alter, minimize, and even entirely avoid your current genetic destiny, says Dr. Colby.

You dont have to wait until illness appears and then try to treat it, he says. The best way to defeat disease will always be to prevent it, and were learning how to do that by studying our genetic code and using the information it provides.

These are three of the biggies, and the gene mutations to be aware of for each.

What we know: The BRCA1 and BRCA2 mutations are inherited from your mother or father and can increase your risk of developing breast cancer by 70%. The PIK3CA gene mutation isnt inherited and is more likely to tell docs how a patient might respond to cancer treatment.

What we know: The APOE4 gene variation is the main genetic risk for the disease; it can lead to the buildup of harmful deposits in the brain that can compromise the function of brain cells. One study found that this variation also caused Alzheimers disease to manifest earlier in life, with memory decline before age 60.

What we know: Many of us have genetic variants that increase our risk of cardiovascular disease no matter what our lifestyle. For example, the APOE gene plays a role in how the body processes cholesterol, and variants within this gene are associated with increased risk of premature death. The SCN5A gene is associated with heart arrhythmias, a risk factor for stroke.

Cells from your body (typically via your saliva if its an at-home test, or from blood if its a test your doc ordered) are collected and sent to a lab, which looks at the DNA within those cells. The amount of genetic info reviewed can be small (for example, a test might look only for the APOE gene for Alzheimers disease) or huge (your entire genome may be sequenced). The resulting info goes to a geneticist, who analyzes it and creates a report. Heres where genetic counselors can be incredibly helpful: Theyre trained to look at your specific gene mutations and help you tailor personalized prevention strategies.

In 2008, Congress made it illegal for, say, an insurance company to increase your premiums or refuse you coverage based on genetic infobut its still a good idea to verify that test results will remain confidential, especially when using a personal genomics company such as 23andMe or one of its competitors. Your name and any other identifying info shouldnt be linked to your genetic information, Dr. Colby says. That way, even if a third party somehow managed to access your genetic info, thered be no way to associate it with you.

Doctors and patients are concerned about the potential for that. But Dr. Colby says that while your anxiety may go up in the days and weeks after you learn youre at increased risk of disease, research shows that its likely to return to baseline. Still, think this through and consider your mental health before making the decision.

This article originally appeared in the March 2021 issue of Prevention.

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Do Genes Affect Health? - Tips to Outsmart Genetic Health Risks - Prevention.com

This article was originally published here

Curr Breast Cancer Rep. 2020 Sep;12(3):125-131. doi: 10.1007/s12609-020-00364-1. Epub 2020 May 19.

ABSTRACT

PURPOSE OF REVIEW: Despite a steady improvement in breast cancer survival rates over the past several decades, mortality disparities remain among Black women, who have a 42% higher death rate compared to non-Hispanic white (NHW) women. Hereditary breast cancer (HBC) accounts for 5-10% of all breast cancer cases, the majority of which are due to the BRCA1 and BRCA2 (BRCA) genes. Despite the availability of BRCA testing for over 25 years, there remain disproportionately lower rates of genetic testing among Blacks compared to NHW due to a multitude of factors. The intent of this review is to discuss racial disparities focused on HBC across diverse populations and review the existing gaps to be addressed when delivering gene-based care.

RECENT FINDINGS: The factors contributing to the racial survival disparity are undoubtedly complex and likely an interplay between tumor biology, genomics, patterns of care and socioeconomic factors. Advances in genomic technologies that now allow for full characterization of germline DNA sequencing are integral in defining the complex and multifactorial cause of breast cancer and may help to explain the existing racial survival disparities.

SUMMARY: Identification of inherited cancer risk may lead to cancer prevention, early cancer detection, treatment guidance, and ultimately has great potential to improve outcomes. Consequently, advances in HBC diagnosis and treatment without widespread implementation have the potential to further widen the existing breast cancer mortality gap between Black and NHW women.

PMID:33603954 | PMC:PMC7885902 | DOI:10.1007/s12609-020-00364-1

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Disparities in Genetic Testing and Care among Black women with Hereditary Breast Cancer - DocWire News

This article was originally published here

Curr Opin Cardiol. 2021 Feb 16. doi: 10.1097/HCO.0000000000000841. Online ahead of print.

ABSTRACT

PURPOSE OF REVIEW: To highlight the evolving understanding of genetic variants, utility of genetic testing, and the selection of novel therapies for cardiac amyloidosis.

RECENT FINDINGS: The last decade has seen considerable progress in cardiac amyloidosis recognition given the advancement in cardiac imaging techniques and widespread availability of genetic testing. A significant shift in the understanding of a genetic basis for amyloidosis has led to the development of disease-modifying therapeutic strategies that improve survival.

SUMMARY: The systemic amyloidoses are disorders caused by extracellular deposition of misfolded amyloid fibrils in various organs. Immunoglobulin light-chain or transthyretin amyloidosis are the most common types associated with cardiac manifestations. Genetic testing plays a central role in the identification of genotypes that are associated with different clinical phenotypes and influence prognosis. Given the emergence of effective therapies, a systematic approach to the diagnosis of cardiac amyloidosis, with the elucidation of genotype when indicated, is essential to select the appropriate treatment.

PMID:33605615 | DOI:10.1097/HCO.0000000000000841

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Clinical approach to genetic testing in amyloid cardiomyopathy: from mechanism to effective therapies - DocWire News

SAN FRANCISCO, Feb. 24, 2021 /PRNewswire/ --Invitae Corporation (NYSE: NVTA), a leading medical genetics company, today announced the addition of tools from Medneon, a digital health AI company, to its robust clinical workflow and patient education tools. The additional capabilities further support clinicians and patients with cancer by making it easier to determine who should get testing and how to use genetic information to individualize treatment.

"While utility of genetic information in cancer care is well established, it remains challenging for clinicians to navigate varying guidelines and research findings that inform them about which patient, which test and what results mean for patient care," said Robert Nussbaum, M.D., chief medical officer at Invitae. "The addition of Medneon's risk assessment tool, which was developed by experts in the field, makes it easier for clinicians to make sure testing is considered and findings are acted upon for all patients who could benefit from genetic-informed care. The frequent updating of Medneon's recommendations based on the most current recommendations and newest research findings means that providers and patients will have the most up-to-date information at their disposal."

Medneon's Predictive Risk Assessment combines several factors, including current guidelines, real-world evidence, and personal and family history, to rapidly identify an individual's elevated short-term and lifetime cancer risk. Clinicians are quickly informed of their patient's eligibility for genetic testing and supplemental imaging, so that preventative action may be taken. In addition, the platform can assist clinicians in confirming and documenting the clinician's determination that the patient met medical necessity qualifying criteria to help navigate insurance coverage. When test results are returned, the company's Personalized Genetic Insights curates information from an array of published expert resources, including the AI knowledge base ASK2ME, medical experts, and genetic counselors, to generate custom reports that support patients and clinicians in shared decision-making.

"For clinicians who are learning to manage care through telemedicine during the ongoing pandemic, the Medneon platform distills the rapidly growing amount of published genetic and genomic information into digestible reports to help determine when to order a test, how to interpret results and how to personalize a care plan," said Noel Pugh, Ph.D., JD, MHA, head of commercialization at Medneon. "We hope by utilizing these tools, preventable cancers will be caught earlier to ultimately deliver better outcomes for patients and their families."

Medneon's technologies are another addition to the tools Invitae offers, anchored by its Gia platform, that support patients and providers by providing patient education and clinical support throughout the genetic testing process across a wide array of clinical areas.

About Medneon

Medneon's mission is to prevent cancer and optimize treatment by empowering individuals and their care team with DNA insights and decision support tools throughout the cancer journey. The innovative Medneon digital platform combines AI and human insights with actionable information regarding an individual's cancer risk to inform precision prevention and management over time at the point-of-care or through telemedicine. For more information, visitthe company's website at http://www.medneon.com.

About Invitae

Invitae 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 atinvitae.com.

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the capabilities and potential benefits of the tools provided by Medneon. 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 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 company's ability to use rapidlychanging 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 filings with the Securities and Exchange Commission, including the risks set forth in the company's Quarterly Report on Form 10-Q for the quarter ended September 30, 2020. These forward-looking statements speak only as of the date hereof, and Invitae Corporation disclaims any obligation to update these forward-looking statements.

Contact:Laura D'Angelo[emailprotected](628) 213-3283

SOURCE Invitae Corporation

http://www.invitae.com

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Invitae adds Medneon's risk assessment tools to its education and clinical support offerings - PRNewswire

BEIJING, Feb. 24, 2021 /PRNewswire/ --Berry Oncology Corporation, the shareholding subsidiary of Berry Genomics, announced the results of a case-control study on the effectiveness of a novel diagnostic method for detecting hepatocellular carcinoma (HCC) in patients with liver cirrhosis, demonstrating the new model had greater accuracy and sensitivity compared to existing screening methods.

The study, published in Cell Research, featured both China and the U.S.-based authors and research teams led separately by Prof. Hong-Yang Wang of the National Center for Liver Cancer, Prof. Jin-Lin Hou of Nanfang Hospital, Southern Medical University and Dr. Lin Wu and Dr. Jian Bai of Berry Oncology. The researchers collected cell-free DNA (cfDNA) samples from a total of 3,234 individuals, including 2,250 patients with liver cirrhosis (LC), 508 with HCC, and 476 healthy controls (CTRL) from 13 hospitals in 11 provinces in China.

Scientists employed a state-of-the-art next-generation sequencing (NGS) technology to acquire genome-wide 5-hydroxymethylcytosine (5-hmc), nucleosome footprint (NF), 5 end motif and fragmentation profiles of cfDNAs from all enrolled individuals. Researchers then used a logistic regression method to construct a weighted diagnostic model based on the performance of these four features.

The novel diagnostic model, called HIFI, achieved a sensitivity of 95.42%, a specificity of 97.83%, and an AUC of 0.996 in the study, a higher accuracy in differentiating HCC from liver cirrhosis than existing diagnosis tests measuring AFP or PIVKA-II. The method was also able to detect signs of liver cancer with 93.9% accuracy among individuals that had tested negative using an AFP test, and with 90.9% accuracy among those that tested negative using a PIVKA-II test.

These results can be achieved regardless of a patient's age, HBV status, Child-Pugh score, BCLC stage, tumor size, or AFP status. Furthermore, the HIFI model can also be used to screen for other major cancers, such as lung cancer.

HCC, the most common form of liver cancer, is the second most deadly cancer worldwide. Patients with liver cirrhosis are at the highest risk of developing HCC, and diagnosis at an early stage contributes to an improved prognosis with the possibility of curative treatment.

"Due to the low accuracy of current diagnostic methods, new non-invasive strategies for early HCC diagnosis in cirrhotic patients are urgently needed," said authors of the study. "The HIFI method exhibited an excellent performance for early-stage HCC diagnosis compared to other non-invasive methods, and has huge potential of HCC detection for cirrhotic patients."

According to Berry Oncology CEO Jun Zhou, the result of this study is a milestone for Berry Oncology in tumor screening and early detection. As the forerunner in the field of genomic testing of cancers in China, this research aligns with Berry's strategic road map will accelerate Berry's advances in early screening of high-risk and high-incidence tumors and can also contribute to similar goals set out in China's 13th Five-Year Plan.

In addition to Berry Oncology, authors of the study also hail from the National Center for Liver Cancer, Shanghai Eastern Hepatobiliary Surgery Hospital in Shanghai, the Memorial Sloan Kettering Cancer Center in New York, Mengchao Hepatobiliary Hospital of Fujian Medical University in Fuzhou, the Second Hospital of Shandong University in Jinan, Ningbo Hwamei Hospital in Ningbo, Nanfang Hospital in Guangzhou and more.

About Berry Oncology

Berry Oncology, founded in 2017 as a member company of Berry Genomics, focuses on genetic testing of cancers. Driven by the mission of "Diagnose all cancers early, treat all patients precisely", we have established for cancer patients and high-risk population a complete system of genetic testing products and services, including tumor genetic susceptibility analysis, early screening, as well as as companion diagnostics, response monitoring and prognosis prediction of both targeted and immune therapies. For cancer early detection, we have launched a series of clinical research projects for early screening and early diagnosis, covering liver cancer, lung cancer, gynecologic cancer, and etc. Berry Oncology has three centers (manufacture, supercomputing, R&D) located in Fuzhou and Beijing. We serve and cooperate with more than 600 Class 3A hospitals across the country, and have provided valuable genetic testing services for hundreds of thousands of patients.

For more information please visit:http://en.berryoncology.com/

About Berry Genomics

Founded in May 2010, Berry Genomics is a leading company in clinical genomics and life science in China. Berry Genomics is dedicated to research, development and commercialization of genetic test technologies in clinical applications. Berry Genomics aims to assist accurate diagnosis of diseases throughout the full human life circle, and to improve human health.

As a company with strong R&D capability, Berry Genomics pioneered the first NGS-based genetic test, NIPT, in China back in 2010. The company currently provides NGS- based tests for many genetic diseases and cancers from preconception to adulthood. Berry Genomics is leading in the clinical study of early clinical detection of liver cancer in the world. Exploring the use of the third-generation sequencing technology in both clinical field and scientific study is ongoing.

Berry Genomics has around 1500 employees dedicating to developing products and providing services for over 4000 organizations and facilities home and abroad, including hospitals, research institutions, universities and corporations.

Berry Genomics has been listed on A-share market in China since 2017 under the stock code: 000710.

For more information please visit:http://www.berrygenomics.com/

View original content:http://www.prnewswire.com/news-releases/berry-oncology-announces-novel-diagnostic-method-for-liver-cancer-achieved-greater-accuracy-and-sensitivity-compared-to-existing-non-invasive-methods-301234210.html

SOURCE Berry Oncology Corporation

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Berry Oncology Announces Novel Diagnostic Method for Liver Cancer Achieved Greater Accuracy and Sensitivity Compared to Existing Non-Invasive Methods...

According to the World Health Organization (WHO) and the American Cancer Society, cancer accounts for about 1 in 6 deaths worldwide - more than HIV/AIDS, tuberculosis, and malaria combined. The report states that by 2040, the global burden is expected to reach 27.5 million new cancer cases and 16.2 million cancer deaths. A WHO estimate in 2018 projected that 1 in 10 Indians will develop cancer during their lifetime and 1in 15 will die of the disease.

About 5-10% of all cancers are hereditary and occur due to inheritance of a genetic variation/mutation within families, especially in close family members. Examples of such hereditary cancer syndromes, also called familial cancer syndromes, are hereditary breast and ovarian cancer syndrome, Li-Fraumeni syndrome, Cowden syndrome, and Lynch syndrome.

Unlike localized (somatic) genetic variations that are acquired over the course of one's life, inherited or familial variations are transmitted from one generation to another and can thus predict the increased lifetime risk of developing cancer. The presence of such variations can also indicate the early onset of the disease.

From a comprehensive cancer treatment point of view, the knowledge of hereditary gene mutations has a plethora of applications including better disease management and application of preventive strategies such as risk-reducing surgeries, which can improve survival. Asymptomatic carriers can also be benefitted from chemoprevention and enhanced surveillance approaches.

There are about 100 genes that are associated with hereditary cancer development and information about mutations in these genes can be used to tailor prevention, surveillance, and treatment of cancer. Genetic testing to detect such inherited variations helps an Oncologist in making a well-informed treatment decision.

Hereditary cancers are known to have a poor-prognosis- meaning these cancers are comparatively more aggressive. This information can aid in better clinical management decisions. Further, mutations in certain genes increase response to drugs and thus contribute to precision/personalized medicine wherein patients are treated based on the mutations identified in them.

For example, women diagnosed with HBOC (Hereditary Breast and Ovarian Cancer syndrome), with a mutation in the BRCA1/2 gene, respond to targeted treatment using Poly ADP-ribose polymerase (PARP) inhibitors.

Considering the multiple advantages of identifying genetic variations in hereditary cancers, the health care fraternity globally, has been trying to make genetic testing more affordable and widely available to the public, enabling easier diagnosis, management, and treatment of this disease.

Sequencing of multiple cancer susceptibility genes simultaneously has now become available through multi-gene panel testing in a rapid and cost-effective manner. This is a breakthrough that will result in a new era of personalized healthcare for hereditary cancers in the decades to come.

-Article by Dr. Lakshmi Mahadevan, Principal Scientist, MedGenome Labs Ltd

READ | Advanced colon cancer: Why waiting may cost you your life

READ | World Cancer Day 2021: Theme, history and significance

READ | World Cancer Day 2021: Breast cancer scenario in India

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What genes tell us about the risk of developing cancer - India Today

Pune, India, Feb. 22, 2021 (GLOBE NEWSWIRE) -- Gene Panel Market Overview

As per Market Research Future (MRFR), the Global Gene Panel Marketis expected to register aCAGR of12.16%to reachUSD4.34 Billion by 2025.

Increased cancer rates and genetic testing benefits will drive growth in the global market for genetic testing. Due to increased incidences of chronic illnesses and the increase in tailor-made gene panels for specific diseases, the market growth is exponential. In addition to market growth, a rise in initiatives across the world and DNA analysis benefits are anticipated to drive the gene panel market.

The thriving biotechnology industry coupled with increased awareness of advanced technologies is one of the main reasons the region has become a primary medical service provider. Although the gene panel testing is accurate, the test's limitations and inaccuracy are expected to impede the growth of the market. Furthermore, the stringent regulations and safety concerns regarding gene panels are likely to stifle this market in the immediate future. Regardless, ongoing research and development of gene sequencing are expected to lead to the rising need for genetic testing.

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COVID-19 Analysis:

The COVID-19 pandemic has heightened interest in the complex interaction between human host factors and pathogen factors. The spectrum of phenotypes associated with the SARS-CoV-2 infection, ranging from the absence of symptoms to severe systemic complications, raised the question of the extent to which the variable response to coronaviruses (CoVs) is influenced by the variability of the hosts' genetic background. Thus, the covid 19 pandemic has led to a rise in the research and development initiatives and investments towards genetics that could be helpful to design and conduct effective studies and, in turn, to find possible healthcare strategies aimed at facing the current COVID-19 pandemic, consequently creating new opportunities for market players of the global gene panel market.

Competitive Landscape:

The Prominent Players in the Global Gene Panel Market are:

The players operating in the global market have tried to innovate, develop, and acquire properties.

Browse In-depth Market Research Report (220 Pages) on Gene Panel: https://www.marketresearchfuture.com/reports/gene-panel-market-6100

Segmental Analysis:

The Global Gene Panel Market has been segmented by product & service, Technique, Design, Application, and End User.

Based on product & service, the market has been bifurcated into test kits and testing services.

The global gene panel market has been bifurcated into an amplicon-based approach and a hybridization-based approach based on technique.

The global gene panel market has been bifurcated into predesigned gene panels and customized gene panels based on design.

Based on application, the global gene panel market has been classified as cancer risk assessment, diagnosis of congenital disorders, and pharmacogenetics.

The global gene panel market based on end-user has been divided into hospitals, diagnostic laboratories, and others.

Regional Insights:

North America Leads with Established Sectors while APAC to Rise Substantially.

The Americas would be the largest market for gene testing at the end of the forecast period. The increasing prevalence of cancer and the growing presence of well-established players support the Americas' dominance in the coming years. North America dominated the global gene panel market due to its dominant position in cancer and rare diseases and the increase in applications for NGS-based and clinical research in the region. Such as many leading genomics researches and leading NGS providers in this region.

Europe created significant growth in the cancer medication market because of rising cancer rates. The rising incidence of cancer in people will, in part, drive the development of the cancer market. Moreover, the presence of a well-established healthcare sector and global market players leads to growth opportunities in Europe over the review period.

The Asia-Pacific region is projected to be the fastest-growing due to projected increases in life expectancy and the number of those who need healthcare. With increasing cancer prevalence and its resulting health care costs and the federal government's investment in cancer research and development, the market is likely to grow. Companies involved in genetic services can target India and China due to increased prevalence of infectious diseases.

Inability to fully advance in the biotechnology industry would have decreased business growth in the Middle East and Africa due to a lack of technological expertise. Due to the limited number of biotech consulting services available worldwide, the Middle East and Africa have the smallest global market share. Nevertheless, the gene panel market is expected to experience gradual growth in the Middle East and Africa due to the increased spending on healthcare and the growing number of people seeking genetic tests. The UAE, Saudi Arabia and Kuwait are expected to push the Middle East & African market. In comparison, the African region will see modest growth over the next decade.

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Industry Updates:

January 2021: Swift Biosciences released an S-gene panel for SARS-CoV-2 that covered the majority of viral genes even with very low levels of virus detection. The S gene controls the spike protein which allows the virus to attach to cells and affect transmissibility; mutations in the concerning variants have been discovered in the U.K., South Africa, Brazil, Denmark, and the United States. The panel will enable rapid scaling of the new strains' surveillance efforts by labs using the Illumina system and can be run by any lab using the Illumina system (NGS).

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Market Research Future (MRFR)is a global market research company that takes pride in its services, offering a complete and accurate analysis with regard to diverse markets and consumers worldwide. Market Research Future has the distinguished objective of providing the optimal quality research and granular research to clients. Our market research studies by products, services, technologies, applications, end users, and market players for global, regional, and country level market segments, enable our clients to see more, know more, and do more, which help answer your most important questions.

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Gene Panel Market Is Estimated to Reach USD 4.34 Billion by 2025 at CAGR of 12.16% | Market Research Future (MRFR) - GlobeNewswire

23andMe, a consumer genetics company, is going public via a merger with Richard Branson's special purpose acquisition corporation (SPAC) VG Acquisition Corp. VGAC, -9.12%, in a deal with an enterprise value of about $3.5 billion, the companies said Thursday. SPACs,or blank-check companies, raise money in an initial public offering and then have two years to acquire a business or businesses. They have become a popular vehicle for IPOs during the pandemic. Once the deal has closed, the company will change its ticker symbol to "ME" and trade on the New York Stock Exchange. 23andMe co-Founder Anne Wojcicki and Branson are investing $25 million in the company, which will have a pro forma cash balance of more than $900 million at closing. 23andMe offers individuals the chance to have their genes tested, providing them with information on health risks and ancestry. "Through a genetics-based approach, we fundamentally believe we can transform the continuum of healthcare.," Wojcicki said in a statement. The deal is expected to close in the second quarter. VG Acquisition shares jumped 12% premarket on the news.

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Genetic testing company 23andMe to go public via merger with Richard Branson's SPAC in $3.5 billion deal - MarketWatch

Cases of breast cancer have been steadily rising in India for the last two decades. It has been estimated that by the year 2025, about two lakh new cases of diagnosed breast cancer will be added in India.

Breast cancer is the most commonly occurring cancer among women. Over 10 percent of breast cancer cases are hereditary.

Fortunately, a genetic test is available that can help assess ones risk of developing cancer by detecting a mutation inassociated genes.

Dr Tushar Patil, consultant medical oncologist, Sahyadri Hospitals, Pune, says, We all would have heard the term Cancer can run in families, and hence a genetic test identifies the gene mutations that run in families and are associated with breast cancer.

Besides, there are other genetic tests that are performed on the tumour tissue to understand the acquired mutations, but that is for some other applications.

Dr Patil says that a genetic test is basically a hereditary risk assessment.

Oncologists say that a genetic test just reveals the presence of a genetic mutation in an individual, which in turn depicts if there is an increased risk of developing cancer.

These tests can be undertaken even before the cancer is developed, as a gene mutation, if inherited, would be present since birth.

Various studies have shown that a woman is at a 12% risk of developing breast cancer throughout her life. This is known as the populations average risk.

If someone has inherited a mutation in a gene calledBRCA1, the risk can go as high as 46-87%. Similarly, if someone has inherited a mutation in theBRCA2gene, the risk can go as high as 38-84%. Hence, understanding the presence of these mutations helps understand the hereditary risk,Dr Mehul Bhansali, director, Medical Oncology, Jaslok Hospital & Research Centre, said.

But is it advisable for every woman to get herself tested for these genetic mutations?

Dr Patil says, I do not recommend every woman to go through this testing. It is important to be observant about the trend in the family.

If there have been multiple cancer cases on the same side of the family, which include cancers such as breast, ovarian, prostate, or pancreatic, there is a high chance that there might be a gene mutation running in the family, he adds.

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Breast Cancer: Do You Need Genetic Testing To Assess Your Risks? - Outlook India

The specific genetic test that can help is known as preimplantation genetic testing for aneuploidies (PGT-A). It helps to select embryos that are the most likely to result in a successful pregnancy and reduces the chance of having your child having an extra or missing chromosome, an event that causes events such as Down syndrome.

While having a child is a joy couples look forward to, genetic disorders can dampen the feeling. It may also affect the quality of life of the child. Not all genetic disorders happen only because one or both the parents carry a faulty gene; some, like the Down Syndrome, may also happen due to the advanced age of the mother. At a time when more and more women are marrying late and having their child much later than their previous generations, the incidence of such disorders is likely to increase. According to research, maternal age at delivery is directly linked to the risk of aneuploidy (presence of an abnormal number of chromosomes in a cell) in the child at 30, 35, 38, 40, 45 and 49 years of age of the mother, the risk of aneuploidy was found to be 1 in 385 (or 0.26%), 1 in 192 (or 0.52%), 1 in 102 (or 0.98%), 1 in 66 (or 1.5%), 1 in 21 (or 4.8%) and 1 in 8 (or 12.5%), respectively.

What is Down Syndrome & its health impact and causes?

Down syndrome or Down's syndrome is also known as trisomy 21 and occurs in approximately 1 of 830 live births. It is a genetic disorder caused an aneuploidy by the presence of all or part of the third copy of chromosome 21 and is associated with a delay in physical growth, mild to moderate cognitive and intellectual disability, and characteristic facial features such as a flat face, especially the bridge of the nose, almond-shaped eyes that slant up, a short neck, and small ears. In fact, Down syndrome can alone account for 15 to 20 per cent of the population with intellectual disability (ID) across the world. They are also likely to be shorter in height as children and adults. Many who are born with it can grow up as individuals with leukaemia, heart defects, early-onset Alzheimer's disease, gastrointestinal problems, and other health issues. Interestingly, though Down Syndrome is one of the commonest birth defects noted in India, its prevalence in the tribal population is not known.

Preventing Down Syndrome

While preventing Down syndrome may not be possible, scientific advancements in the field of reproductive genetics since the 1990s have made it possible to minimise the chance of a child being born with Down Syndrome to near zero. This technology, known as preimplantation genetic screening (PGS), a preventative measure used to identify chromosomal abnormalities and abnormalities in chromosome position, known as translocations, in an embryo, even if none of the parents have any known genetic disease. Yes, having a child without Down syndrome is possible by combining in-vitro fertlisation (IVF) with preimplantation genetic screening or PGS (testing embryos from parents with no known genetic disorders). The specific genetic test that can help is known as preimplantation genetic testing for aneuploidies (PGT-A). It helps to select embryos that are the most likely to result in a successful pregnancy and reduces the chance of having your child having an extra or missing chromosome, an event that causes events such as Down syndrome. Do not mistake it for preimplantation genetic diagnosis (PGD), a testing method that helps identify as many as 400 genetic defects in embryos as young as 5 days before they are implanted in the womb.

While PGD (testing embryos from parents, one or both of who have a genetic abnormality) helps couples with history of multiple failed IVFs, or multiple missed abortions or miscarriages, PGS is recommended for women aged 38 or more, or those who have a history of miscarriages and failed IVF or implantation. If a woman is going to be a mother in her late 30s or already has a child with Down Syndrome, having a pre-conception counselling may prove helpful you doctor may also refer you to a genetic counsellor who can guide about the risks to enable the would-be parents take an informed decision.

About the author: By Dr. Gauri Agarwal Fertility Expert & Founder of Seeds of Innocence & Genestrings Lab

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EXCLUSIVE: THIS genetic testing can lower the risk of Down Syndrome in your baby - PINKVILLA

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

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

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

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

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

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

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MAJOR TOC OF THE REPORT:-

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Competitive Landscape and Genetic TestingMarket Share Analysis

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

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

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

Genetic Testing Market Country Level Analysis:

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

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

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

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

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

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

About Paw Print Genetics

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

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

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

SOURCE Paw Print Genetics

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

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

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

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

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

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

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

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

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

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Mutations Commonly Linked to Breast Cancer Found to Pose No Increased Risk - UPENN Almanac