Archive for the ‘Genetic Testing’ Category

When Katy Mathes and six of her family members learned they had a mutation on a BRCA gene that significantly raised their risk of breast cancer they underwent major surgery. But years later, the genetic testing company lowered the family's odds of getting the disease, Amy Dockser Marcus reports for the Wall Street Journal.

In August 2015, Mathes decided to get a BRCA test. Mathes' mother had been diagnosed with breast cancer at 49, and four of her aunts had tested positive for the BRCA gene, and "moved quickly to get surgery," Dockser Marcus reports.

Mathes and her sister, Tricia Leigh, also had positive tests. The test results showed that Mathes had up to an 84% risk of developing breast cancer by age 70 and up to a 27% risk of developing ovarian cancer by age 70. Among the general population, the odds of developing breast or ovarian cancer are 7.3% and 0.7%, respectively, Dockser Marcus reports.

But the two women grappled over the decision of whether to get surgery: Mathes wanted another child and her sister was breastfeeding her second child.

After consulting with additional doctors, Mathes eventually decided to have her ovaries and fallopian tubes removed, the same procedure her aunts, sister, and mother underwent. In addition, Mathes and her sister had double mastectomies.

"I treated my test results like the Bible," Mathes said. "There was no questioning the report."

But years after the initial test, Myriad Genetics, the molecular diagnostics company that did Mathes' test as well as her relatives', changed its classification of the BRCA variant Mathes has from "pathogenic" to "unknown significance," a move that Myriad said is very unusual.

By this point, Mathes and six of her family members had undergone surgery based on their test results. When the sisters learned the news, Mathes said, "My brain just shut off."

Susan Manley, SVP of medical services at Myriad and a board-certified genetic counselor, said, "We know these are very difficult situations. We make these reclassifications very carefully. The science is evolving." She added that changing a classification from harmful to uncertain "is a rare event, but I understand that rare is of no consolation to the patient when it happens to them."

BRCA tests are among the most common genetic tests in existence, Dockser Marcus writes, and genetic testing guidelines have expanded who should receive BRCA tests. Major genetic testing companies such as 23andMe, Ancestry, and MyHeritage now offer the tests for BRCA1 and BRCA2 genes.

However, not every lab agrees on the specific classification of a BRCA gene variant, Dockser Marcus reports. That's in part because there are "tens of thousands of BRCA variants" and not all of them necessarily carry the same level of risk for a patient, Dockser Marcus reports.

Fergus Couch, a professor at the Mayo Clinic, said some variants "have intermediate or moderate levels of risk, not full-blown risk." For a number of those variants, labs "are making a judgment call but that is not always clear to the public," Couch said.

Stephen Chanock, a geneticist at the National Cancer Institute, said, "[G]enetics is murky." He added, "It's not so simple as 'Doctor, do I have to worry or don't I have to worry?'"

According to Melissa Cline, a researcher at the University of California Santa Cruz Genomics Institute, and project manager of the BRCA Exchange, the analysis on the BRCA variant in the Mathes' family put a lot of weight on a 2011 paper that found the variant likely alters the BRCA2 protein, which can help suppress tumors.

Seth Marcus, a genetic counselor at Advocate Health Care who counseled Mathes' mother and one of her aunts, said he checked a public database to see how other labs classify the variant once he heard of Myriad's change. He said six labs still classify the variant as "likely pathogenic."

"In the end, you give the patient the data and the knowledge you know," he said.

Dockser Marcus reports that Myriad currently has 38 people in its database with the BRCA variant Mathes and her relatives have, 12 of whom come from Mathes' family. Mathes said that if she had known about the sample size, she and her husband may have asked more questions about whether surgery was appropriate.

Now, based on Mathes' family history and Myriad's classification change, Mathes' genetic counselor estimated her lifetime risk of developing breast cancer is 21%, Dockser Marcus writes.

"That is not high enough to make me remove organs," Mathes said. "I would have had another kid. I would have waited to do surgery" (Dockser Marcus, Wall Street Journal, 12/20/19).

Originally posted here:
'I would have had another kid': How an imperfect gene test led to major surgeryand big regrets - The Daily Briefing

Cystic fibrosis carriers individuals who have certain genetic mutations in one of the copies of the CFTR gene have a significantly increased risk compared with healthy people for several CF-related conditions, a new study shows.

The study, Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions, was published in the journal Proceedings of the National Academy of Sciences.

Because CF is a recessive genetic disorder, both copies of a persons CFTRgene one inherited from the mother and the other from the father must be mutated to develop the full-blown disease. People with CF develop recurrent pulmonary infections and also hormonal, gastrointestinal, pancreatic, liver, and reproductive problems.

People with one mutated copy of the CFTRgene are called CF carriers. It was believed that these individuals, having only 1 defective CFTR gene, are not considered to be at increased risk for CF-related conditions, the researchers said.

In fact, CF carriers are routinely informed that they are not at increased health risk, they said.

However, some studies have found a higher-than-expected proportion of CF carriers with a limited number of CF-related conditions, the team noted. These conditions include pancreatitis, male infertility, airway infections, and gastrointestinal problems.

The researchers noted that the majority of these studies were performed on a small scale and lack appropriated controls. Thus, there was an unmet need to confirm and expand on previous studies suggesting that CF carriers are at greater risk for CF-related conditions.

That led the team, from the University of Iowa (UI), to investigate the risk of carrier status in developing CF-related conditions. The scientists analyzed data from the IBM Watson/Truven Health Analytics MarketScan Database, a large database of health information.

The team identified 19,802 CF carriers, and matched each carrier with five people without CF (controls), totaling 99,010 people. For the CF group, they included 23,557 patients with the disease, who were matched to a non-CF group of 117,762 healthy people (controls).

All participants were analyzed for 59 CF-related conditions, including those affecting the bone, like osteoporosis and scoliosis, those impacting the endocrine system, including diabetes, those having an effect on the gastrointestinal system, and those affecting organs like the liver, pancreas, kidneys, and lungs.

The results showed that CF carriers were at higher risk for all 59 conditions analyzed, with a significant risk found for 57 of them.

Carriers had a significantly greater risk of conditions previously linked to the CF carrier status, like male infertility or pancreatitis. However, they also were found to be at significantly increased risk for conditions not previously linked to the carrier state, such as constipation or diabetes, among others.

Moreover, the team found that the more prevalent a condition is in CF patients, the more widespread it also is in CF carriers.

To exclude any potential bias, the researchers included a CF carrier validation cohort a group composed of 2,185 mothers of CF patients (meaning the mothers must be CF carriers).

Health records of these women, from before their children were diagnosed, mirrored the previous findings. Specifically, among the 42 conditions detected in the adult women, 40 of them had higher prevalence among CF carriers. For 28 of these conditions, the link was statistically significant.

Taken together, our results call into question the idea that CFTR expression levels associated with the CF carrier state are sufficient to completely protect subjects from CF-related conditions, the researchers said.

Notably, while the investigators said their findings show the risk of certain CF-related conditions is higher for carriers compared with healthy controls (relative risk), the actual chance (absolute risk) of developing these conditions is still very low.

CF carriers are nowhere near as at-risk as patients with CF, Philip Polgreen, MD, UI professor of internal medicine and epidemiology, and the studys lead author, said in a press release. But compared to people with no CF mutations, they have a slightly higher risk for some diseases.

For conditions such as chronic pancreatitis, the relative risk is very high for carriers, but the absolute risk of pancreatitis is low, even for CF carriers in our sample, the researchers said.

Nonetheless, these findings carry implications for how CF carriers including more than an estimated 10 million Americans live their lives. For example, being a CF carrier may provide motivation for avoiding other disease-risk factors, such as excessive alcohol use (e.g., pancreatitis), and may help inform screening or preventive-treatment strategies (e.g., gastrointestinal cancer), the researchers said.

The team also emphasized that genetic testing, combined with data from large medical databases, may help CF carriers, and be extended to carriers of other recessive genetic diseases.

More and more individuals are receiving genetic testing from their providers or from private companies, and if this information can be incorporated into healthcare records, there could be many new opportunities to discover both population-level health risks and individualized treatment options, said Aaron Miller, PhD, UI assistant professor of epidemiology, and the studys first author.

Patricia holds her Ph.D. in Cell Biology from University Nova de Lisboa, and has served as an author on several research projects and fellowships, as well as major grant applications for European Agencies. She also served as a PhD student research assistant in the Department of Microbiology & Immunology, Columbia University, New York.

Total Posts: 336

Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

Originally posted here:
CF Carriers at Increased Risk for Disease-related Conditions, Study Finds - Cystic Fibrosis News Today

The only thing Amber Freed ever wanted was to be a mom.

Like a lot of people, she and her husband Mark had a hard time conceiving. But after two years of IVF treatments, the Denver couple got a double dose of good news: Amber was pregnant with twins.

Maxwell and Riley were born on March 27, 2017.

"They instantly changed my life and made me so happy," Amber said.

But while the twins came into the world together, they didn't develop at the same pace as they grew. When they were about four months old, Amber and Mark noticed the difference: Maxwell wasn't reaching for toys or his bottle like his sister did he didn't use his hands at all.

After six months of genetic testing, Maxwell was diagnosed with a disease so rare it doesn't even have a name. Instead, it's known by its genetic location: SLC6A1. At the time of Maxwell's diagnosis, there were only 50 known cases in the world.

"I just remember thinking that that wasn't the name of a disease. It was the name of a flight number," said Amber. "I could not understand what my perfect, beautiful little baby boy had, and neither could the doctors."

What they did know was that Maxwell's rare neurological condition would likely cause severe movement and speech disorders and intellectual disability. Between the ages of three and four, Maxwell is expected to develop a debilitating form of epilepsy and start to regress.

Mark and Amber Freed with their twins Riley and Maxwell

Amber Freed

Amber refused to just sit back and watch that happen. She quit her job as a financial analyst at Janus Henderson the day Maxwell was diagnosed, and dedicated herself to finding a cure.

"It was in that moment that there was no future for my most prized possession in the world, that I was not going to accept that answer for little Maxwell," she said. "And I decided to fight like a mother."

She asked the doctors what they would do if Maxwell were their child. They told her to "call scientists."

Working 80 hours a week, Amber became an expert in the biology of the disease and reached out to 140 scientists over the next three months. She founded a non-profit and in 10 months, between that and a GoFundMe campaign, has raised $1 million to fund the initial research into a cure.

Amber was told gene replacement therapy was Maxwell's best hope.

The Food and Drug Administration has already approved gene therapy for some other diseases, including a rare form of vision loss and for some leukemia patients. It involves introducing a new gene through a virus that doesn't make the patient sick. It targets the defective gene, replacing it with a good copy, altering the patient's DNA and it's hoped dramatically improving the disease with a single treatment.

At some point, Amber decided Dr. Steven Gray at the University of Texas Southwestern Medical Center in Dallas was the best person to help her son. But Gray was busy and hard to pin down. So Amber showed up at a conference where she knew he'd be speaking, and sat down next to him. After a four-hour dinner that night, they had a game plan.

Gray's team has advanced their research on SLC6A1 to the point where they're ready to start clinical trials.

But a phase one trial requires money. A lot of money. Amber needs another $3 million to $6 million and connections in the drug industry.

So she's joining the thousands of health industry investors and executives flying to San Francisco for the JPMorgan Healthcare Conference this week. You'll never find a place with a denser concentration of the people who fund drug development. She's hoping for donations or maybe to find a biotech company that would want to invest as a business opportunity.

But the Freed family is racing against the clock. Amber and Mark's little boy, who they call "Mr. Snuggles" because he loves hugging his sister and giving open mouth kisses, could start having debilitating seizures within the next year.

And even if she can get a clinical trial started, there's never a guarantee any patient, including Maxwell, will be admitted.

"The University of Texas Southwestern was very straightforward upfront that you may not be doing this for Maxwell," Amber explained. "There's a chance this may not be done in time for him, that you're doing it for every child that comes after him. And I lived with that fear and uncertainty for a very long time. And I understand and the way I make peace with it is thinking that there's no greater legacy in the world and doing the best you can to really impact a multitude of little lives."

She says her dream is that SLC6A1 will someday be part of a newborn screening panel, and that babies with the defect will be able to be treated and cured before they ever leave the hospital.

"They will never become symptomatic of this disease," she hopes. "There will never be another Maxwell Freed."

CORRECTION: This article was updated to correct the number of hours Amber Freed worked trying to find a cure for her son. It was 80 hours a week.

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'I decided to fight like a mother': How one parent is battling to cure a disease so rare it has no name - CNBC

A doctor speaks with a patient. Individualized drug therapies will disrupt many of the automated processes that have been tested and validated under quality control requirements.

Photo by Adam Berry/Getty Images

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The idea that we all could lead healthier, longer lives with the advent of personalized health care is a testament to the ingenuity and evolution of medicine.

That being said, cost, regulations and ethical issues are some of the main challenges still to overcome.

According to a recent white paper by PreScouter, Personalized Medicine: Moving From Average to Personal, personalized medicine will not only change the way patients are diagnosed and treated, but it will also disrupt current drug manufacturing protocols.

Large-batch production may become a thing of the past, and thats not necessarily a bad thing. Single-use technologies that produce small batches of drugs are safe and effective and dont have the financial burden of fixed capital investments and constant equipment upkeep.

On the other hand, individualized drug therapies will disrupt many of the automated processes that have been tested and validated under quality control requirements.

This could mean a shift in manufacturing to manual labor, which would require new production facilities and altered supply-chain logistics. Many current personalized treatments involve manufacturing products using a patients own cells. For example, chimeric antigen receptor (CAR) T-cell therapy necessitates the extraction of a patients T-cells, genetic reprogramming of those T-cells so they can fight cancer cells and reinfusion back into the patient.

This type of therapy is a far cry from the simple manufacturing of a drug in-house and exporting it to facilities that directly market to patients. Instead, it is a complex arrangement of appropriate shipping conditions, quality control and safety requirements. And this is all for a single patient. How personalized medicine will ultimately affect manufacturing and distribution is unclear, but the industry will need to adapt to fulfill individualized production needs.

Personalized medicines effect on health care costs is also not clear. It seems likely that specialized treatments made for individuals or small groups of people would increase costs because everyone would require individualized drug production.

On the flip side, genomic sequencing, which creates a roadmap for precision treatment decisions, is not as costly as it was 15 years ago and informed drug targeting could reduce the overall cost of health care by addressing the underlying causes immediately. Perhaps it will be most interesting to observe how insurance companies react to this treatment paradigm shift.

Source: Personalized Medicine: Moving From Average to Personal, PreScouter

Historically, health insurance companies have taken a conservative approach to coverage of genetic testing, which at this point is the primary foundation for identifying individual treatment strategies.

To circumvent this problem, U.S. lawmakers on both sides of the aisle are drafting legislation like the Advancing Access to Precision Medicine Act, which would allow states to apply for exceptions to the federal medical assistance percentage rate to cover whole genome sequencing clinical services for children whose diseases may have an underlying genetic component.

Genetic and genomic sequencing companies are also doing their part in making personalized medicine more palatable to insurance companies by offering to pick up part of the tab.

Under a contract between Harvard Pilgrim Health Care and Illumina, Harvard Pilgrim will cover to a predetermined limit prenatal genetic testing for women under the age of 35 with average-risk pregnancies, while Illumina, a next-generation genetic testing company, will cover the remaining cost. Partnerships like this may show the utility of genetic testing while potentially reducing the financial burden of lifelong health care for improperly diagnosed and treated conditions.

The number of approved personalized medicines has increased dramatically since 2005.

This consists of both conventional modalities as well as novel approaches; for example, in 2017, the U.S. Food and Drug Administration (FDA) approved the use of CAR T-cell therapy to treat B-cell lymphoma. Despite this rise in approval, some challenges to regulation have arisen.

Personalized Medicine at the FDA: Then and Now

Source: Personalized Medicine: Moving From Average to Personal, PreScouter

Personalized medicine is possible thanks to the thousands of people who have essentially donated their medical information.

Much of the data now stored in biobanks and used to make informed treatment decisions were gathered when personalized medicine was naught but a thought. Potential ethical issues of using this data, where informed consent was given at a time when precision medicine was inconceivable, have been resolved. The language of consent forms was broad and therefore ruled inclusive for modern research questions.

In an age of data compiling and sharing across the academic, industry and health care settings, the most important considerations are patient confidentiality, protection and ownership of information, and proper disposal of materials.

While interdisciplinary collaboration is great for innovation and discovery, it can also confuse the proper channels for information and sample handling. To get a handle on this, patients now have the power to control their information. Dynamic consent requires communication between the patient and the user of the patients information when the user plans to apply the data to a new project. The patient can deny or allow consent at any point and will always be informed of the manner in which their information is to be used.

But dynamic consent is neither widespread nor a requirement across all biobanks. Overall, there is a lack of consistency in consent requirements and perhaps a need for more strict and pervasive health data protection legislation.

As is the case with most scientific advancements, the regulatory, social and economic facets must play catch-up with the technology.

Clear and transparent processes and communication will be necessary to ensure that personalized medicine is practiced efficiently and effectively. With the power to address unmet medical needs at the individual level, universal personalized medicine is the goal.

Original post:
Personalized Medicine Is About to Go Mainstream With Big Implications for Health Care - BRINK

SAN FRANCISCO, Jan. 8, 2020 /PRNewswire/ --Today BioMarin Pharmaceutical Inc. (NASDAQ: BMRN) and Invitae Corporation (NYSE: NVTA) announced that Biogen (NASDAQ: BIIB), Encoded Therapeutics, Neurogene, Praxis Precision Medicines and PTC Therapeutics joined Behind the Seizure, an innovative, cross-company collaboration that aims to provide faster diagnosis for young children with epilepsy. The program will also be expanded to make no-charge testing available for healthcare providers to order for any child under the age of eight who has an unprovoked seizure.

"Behind the Seizure is one of the longest-running cross-company collaborations aimed at increasing access to genetic testing. It has been shown to decrease time to diagnosis for children experiencing unprovoked seizures by one to two years from reported averages, and as more companies have joined the program, more children have been helped," said Robert Nussbaum, chief medical officer of Invitae. "Earlier diagnosis enables clinicians to focus on providing disease-specific care sooner, which is particularly important in neurodegenerative diseases. We applaud these companies for their commitment to expanding this unique effort to help children."

Previously the program was available to children under age five. The newest companies to join Behind the Seizure include:

Behind the Seizure is supported by eight sponsors in all, including Stoke Therapeutics and Xenon Pharmaceuticals who joined in 2019.

Since the program began, thousands of children have received genetic testing through Behind the Seizure and research has shown that participants in the program were diagnosed one to two years sooner than historic averages.1 Companies that participate in the program sponsor the cost of testing using the Invitae Epilepsy Panel, which includes more than 180 genes associated with both syndromic and non-syndromic causes of epilepsy, including neurodegenerative conditions. With the expansion of the program, healthcare providers now can order the test for patients under the age of eight with unprovoked seizures. Test results are available quickly (14 days on average).

More than half of epilepsies are based in genetics. When a child presents with seizures, genetic testing can help identify more than 100 underlying, often rare conditions. Early genetic testing may be the most cost-effective, direct and accurate diagnostic tool for children, shortening years-long diagnostic odysseys. Delays in diagnosis can be devastating for children, as some genetic epilepsies are neurodegenerative and early symptoms may be subtle and easy to misdiagnose.

Participating companies provide financial support for this program, which includes testing and services performed by Invitae. Healthcare professionals must confirm that patients meet certain criteria to use the program. Third parties and commercial organizations may receive de-identified patient data and contact information for healthcare providers who use this program, but at no time do they receive patient identifiable information. Genetic testing and counseling are available in the US and Canada. Healthcare professionals and patients who participate in this program have no obligation to recommend, purchase, order, prescribe, promote, administer, use or support any other products or services from Invitae or from third parties or commercial organizations.

About Behind the SeizureBehind the Seizure is an innovative, cross-company collaboration designed to increase access to genetic testing for children who experience unprovoked seizures in childhood in the United States and Canada. More than half of epilepsies have some genetic basis, and are often associated with rare, neurodegenerative conditions with non-specific symptoms. Early genetic testing may be the most direct, cost-effective, and accurate diagnostic tool. Participants in the Behind the Seizure program are diagnosed one to two years sooner than reported averages. The program was established by BioMarin and Invitae and now includes: Biogen, Encoded Therapeutics, Neurogene Inc., Praxis Precision Medicines, PTC Therapeutics, Stoke Therapeutics and Xenon Pharmaceuticals. To learn more about the Behind the Seizure program please visit https://www.invitae.com/en/behindtheseizure/.

About BioMarinBioMarin is a global biotechnology company that develops and commercializes innovative therapies for patients with serious and life-threatening rare and ultra-rare genetic diseases. The company's portfolio consists of seven commercialized products and multiple clinical and pre-clinical product candidates. For additional information, please visit http://www.biomarin.com.

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

About Encoded TherapeuticsEncoded Therapeutics, Inc. is a biotechnology company developing precision gene therapies for a broad range of severe genetic disorders. Our mission is to realize the potential of genomics-driven precision medicine by overcoming key limitations of viral gene therapy. We focus on delivering life-changing advances that move away from disease management and towards lasting disease modification. For more information, please visit http://www.Encoded.com.

About Neurogene Inc.Neurogene was founded to bring life-changing medicines to patients and families affected by rare neurological disorders. We partner with leading academic researchers, patient advocacy organizations and caregivers to bring to patients therapies that address the underlying genetic cause of a broad spectrum of neurological diseases where no effective treatment options exist today. Our lead programs use AAV-based gene therapy technology to deliver a normal gene to patients with a dysfunctional gene. Neurogene is also investing in novel technology to develop treatments for diseases not well served by gene therapy. For more information, visit http://www.neurogene.com.

About Praxis Precision MedicinesPraxis Precision Medicines is a clinical-stage genetic neuroscience company developing high-impact therapies for patients and families affected by complex and debilitating brain disorders, including rare pediatric epilepsies and neuropsychiatric disorders. These two disease areas share overlapping disease biology and genetic targets, as well as a profound need for new therapeutic options that target the underlying cause of the disease. Praxis is advancing a pipeline of breakthrough medicines with the potential to more precisely treat complex brain disorders. For more information, please visit http://www.praxismedicines.com.

About PTC TherapeuticsPTC Therapeutics is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically-differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need.

About Stoke TherapeuticsStoke Therapeutics, Inc. (Nasdaq: STOK), is a biotechnology company pioneering a new way to treat the underlying causes of severe genetic diseases by precisely upregulating protein expression to restore target proteins to near normal levels. Stoke aims to develop the first precision medicine platform to target the underlying cause of a broad spectrum of genetic diseases in which the patient has one healthy copy of a gene and one mutated copy that fails to produce a protein essential to health. These diseases, in which loss of approximately 50% of normal protein expression causes disease, are called autosomal dominant haploinsufficiencies. The company's lead investigational new medicine is STK-001, a proprietary antisense oligonucleotide (ASO) that has the potential to be the first disease-modifying therapy to address the genetic cause of Dravet syndrome, a severe and progressive genetic epilepsy. Stoke is headquartered in Bedford, Massachusetts with offices in Cambridge, Massachusetts. For more information, visithttps://www.stoketherapeutics.com/or follow the company on Twitter at @StokeTx.

About Xenon PharmaceuticalsXenon Pharmaceuticals is a clinical stage biopharmaceutical company committed to developing innovative therapeutics to improve the lives of patients with neurological disorders, including rare central nervous system (CNS) conditions. We are advancing a novel product pipeline of neurology therapies to address areas of high unmet medical need, with a focus on epilepsy. For more information, please visit http://www.xenon-pharma.com.

Safe Harbor StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the benefits of genetic testing and the Behind the Seizure program, including shortening the time to diagnosis and improved treatment outcomes for patients. 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 ability to use rapidly changing genetic data to interpret test results accurately and consistently; the ability of genetic testing to result in faster or more accurate diagnosis; laws and regulations applicable to the company's business; and the other risks set forth in Invitae's filings with the Securities and Exchange Commission, including the risks set forth in its Quarterly Report on Form 10-Q for the quarter ended September 30, 2019. 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'Angelopr@invitae.com(628) 213-3283

1 Miller, Nicole, et al, "Behind the Seizure: A No-Cost 125-gene Epilepsy Panel for Pediatric Seizure Onset Between 24 Years". Presented at the American Society of Human Genetics Meeting: October 1620, 2018, San Diego, CA.

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SOURCE Invitae Corporation

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Behind the Seizure Program Further Expands Access to Genetic Testing for Children to Speed the Diagnosis of Genetic Epilepsy - P&T Community

Pharmacogenetics presents clinicians an attractive option to optimize drug therapy, minimize harmful effects, and contain costs; but, payers may not be taking full advantage of cost-saving potential by choosing only to cover the costs associated with interrogating a single gene.

Reports vary, but the cost of testing a single gene appears to range from $100 to $500, depending on the source. The cost of running an entire panel is a similar price.

Despite the virtually negative cost differential, payers are reluctant to cover the cost of running a full panel of tests. This common practice raises the question of why many payer organizations do not pay for running an entire test panel. Experts differ in their speculations as to why this is the case.

I dont think theyre familiar with the total body of knowledge, says Ruben Bonilla-Guerrero, MD, FACMG, FAACC, MB(ASCP), CGMBS, medical director of medical affairs at Admera Health, a leader in personalized medicine and non-invasive cancer testing in South Plainfield, New Jersey. Insurance companies consider running a pharmacogenetic test panel as experimental even though the labels on more than 200 drugs mention pharmacogenetics testing.

Related:Genetic Testing in Treatment Decision Making Goes Mainstream

Pharmacogenetic testing offers important advantages by facilitating the prescribers ability to select, initiate, and adjust a pharmaceutical drug product with a much higher level of precision than previously available with conventional dose titration. Pre-emptive testing also helps prevent adverse drug events that occur as a result of overdosing medications.

However, like many areas of healthcare, weighing the cost against the purported benefits is also critical.

Payers want to reimburse for tests that are done for a specific indication and that have evidence-based, actionable treatments based on the results, says Erin Lopata, PharmD, MPH, senior director of the Access Experience Team at Precision for Value, part of Precision Value & Health, which performs value and access consulting services for entities that may be involved in value-based contracting.

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The Benefits of Pharmacogenetic Testing - Managed Healthcare Executive

Biofidelity assay has potential to make high precision, cost-effective and non-invasive diagnosis more widely available, improving treatment and patient outcomes

Cambridge, UK, 9th January 2020 Biofidelity Ltd, a company developing high performing novel molecular assays for the detection of targeted, low-frequency genetic mutations, today announced the successful completion of a study to detect key lung cancer mutations in collaboration with Agilent Technologies, a global leader in life sciences, diagnostics, and applied chemical markets.

The collaboration, using an assay developed by Biofidelity, demonstrated an improvement in sensitivity of 50 times that achieved with current FDA-approved PCR-based diagnostics, matching that of specialized NGS assays, which require error-correction technology, while providing a dramatic simplification of workflows from more than 100 steps, to just 4 (four). Assays were performed using standard laboratory instrumentation, demonstrating the potential for straightforward adoption of Biofidelitys panels in decentralised testing laboratories around the world.

As well as extremely high sensitivity, 100% specificity was achieved in the detection of multiplexed panels of mutations from both tissue and plasma, with no false positives observed across more than 750 assays. Analysis of results is also dramatically simpler than sequencing-based assays, providing physicians a clear, simple, actionable result, with a turnaround time of less than 3 hours, making the Biofidelity assay suitable for recurrent patient monitoring.

Genetic testing for lung cancer mutations is usually carried out through invasive tissue biopsy, an expensive procedure carrying significant risk for patients with advanced disease. Up to 10% of such tests fail due to the lack of sensitivity of current testing solutions and poor sample quality.

Liquid biopsy, or testing directly from the patients blood, offers a non-invasive alternative with significant potential benefits to patients. However, its use has been limited by the lack of cost-effective, robust and rapid tests which are sufficiently sensitive to enable detection of the very small fractions of tumor DNA present in such samples.

Of the nearly 2 million new cases of non-small-cell lung cancer (NSCLC) diagnosed each year worldwide, fewer than 5% of patients receive high-sensitivity, non-invasive genetic testing. The assay developed by Biofidelity could provide a simple solution, enabling access to high-precision genetic testing for more than 1.7m new NSCLC patients every year with a test that outperforms DNA sequencing in a fraction of the time.

Work was supported by InnovateUK grant number 105202 as part of the Investment Accelerator: Innovation in Precision Medicine program.

Dr Barnaby Balmforth, Chief Executive Officer of Biofidelity, commented: Our goal is to improve patient outcomes in oncology by enabling much greater access to the highest precision diagnostic tests. This collaboration with Agilent in lung cancer has again demonstrated that Biofidelitys molecular assays dramatically increase the effectiveness and speed of diagnosis, supporting early detection of disease, better targeting of therapies and improved patient monitoring. By combining diagnostic outperformance and rapid results in a simple, cost-efficient format using existing instrumentation, we believe we have the potential to bring high precision testing to many more NSCLC patients, substantially reducing the need for invasive biopsies.

Tad Weems, Managing Director, Agilent Early Stage Partnerships, commented: As both a scientific collaborator and an investor in the company, Agilent has been impressed by the data from Biofidelitys assays, which detected a selection of NSCLC DNA mutations at extremely low frequencies in both tissue and plasma samples without the need for DNA sequencing. Biofidelitys assays are specific and sensitive, with the potential to provide improved and rapid routine cancer diagnostics.

Notes To Editors

About Biofidelity

Biofidelity has developed a molecular assay with a simple workflow and fast time-to-result which can transform the detection of genetic abnormalities within a sample by reliably detecting large panels of DNA mutations at extremely low frequencies.

This assay has a simple workflow and is suitable for routine use in diagnostics labs around the world, without the need for investment in new instrumentation or infrastructure.

Biofidelity is developing genetic panels for use in precision medicine and patient monitoring across a range of diseases including NSCLC and colorectal cancer

Located in Cambridge, UK, Biofidelity is a private company founded in 2019.

For more information, visit http://www.biofidelity.com, or follow us on LinkedIn: Biofidelity.

Issued for and on behalf of Biofidelity by Instinctif Partners.For more information please contact:

BiofidelityDr Barnaby Balmforth, CEOT: +44 1223 358652E: info@biofidelity.com

Instinctif PartnersTim Watson / Genevieve WilsonT: +44 20 7457 2020E: Biofidelity@instinctif.com

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Biofidelity and Agilent complete successful molecular assay study for rapid and accurate detection of key lung cancer mutations - BioSpace

Im fascinated by genetics, but I also find it extremely complicated and confusing. In fact, I remember genetics being one of the most intimidating topics we learned in biology back in high school. If you had told me back then that Id be writing about a genetics company all these years later for The Jerusalem Post, I might have laughed.When it comes to genetics, variables are limitless, and its mind-blowing to see how each of us, in our own unique way, essentially won the genetic lottery through the course of time and evolution.This explains why recreational genetic testing providers, such as 23andMe, Ancestry.com, and MyHeritage gained significant popularity over the years.However, it is worth noting that these services can only read a portion of our DNA data. There is so much more depth to the full picture of our DNA and gaining visibility into that data can improve health and prevent premature death, as well as identify and eliminate the risk of passing genetic disorders.The first human genome was sequenced in 2013 as part of an international project with the goal of identifying and mapping all human genes. The project took 13 years to complete and the estimated cost was a whopping $3 billion.To this day, it remains the worlds largest collaborative biological project and it has opened new frontiers in science and medicine, but also brought challenges that have yet to be fully addressed.It presently costs less than $1,000 and takes a single day to sequence the human genome. Whole genome sequencing (WGS) provides a readout of the three billion letters of an individuals entire DNA sequence. This data provides the foundation for identifying all types of disease-causing variants, or changes in an individuals DNA that cause disease.However, the biggest challenge is how to accurately (and economically) make sense of the vast amounts of data that WGS generates. I mean, there is big data and then there is this, more like astronomical data!Variantyx is a Tel Aviv-based clinically accredited genetic testing lab. Its headquarters are in Boston and it uses technology based on WGS to perform one-stop comprehensive testing for patients. The company was founded in 2014, and has raised $18 million in capital from Pitango. The analyses performed by Variantyx are carried out using an in-house developed analytical platform built and optimized for WGS data. Their proprietary algorithms identify a wide range of difficult-to-detect sequence variants, and is then presented to Variantyxs clinical team for interpretation and reporting. The potential of this technology is quite literally limitless.Variantyxs Genomic Unity is the industrys first comprehensive, all-in-one test for diagnosis of rare inherited disorders. It eliminates the need to order multiple tests, resulting in more diagnoses in a shorter period of time, and with lower overall costs. This is a big deal because rare disorders are not actually rare. With more than 7,000 rare diseases, its estimated that over 30 million people in the US and over 350 million people globally are affected. Many of these diseases are genetic in origin, and many of the individuals affected are children.THROUGHOUT THE typical diagnostic journey, a rare-disease patient will be seen by eight different physicians in less than a decade, and will spend an average of $21,000 to reach a diagnosis. They are the lucky ones. Many patients remain undiagnosed, despite multiple rounds of genetic testing. Variantyxs WGS-based Genomic Unity test is changing this.Since its introduction to the market in late 2017, the test has solved hundreds of previously undiagnosed cases for patients at many childrens hospitals worldwide. The benefits of comprehensive genetic testing extend to healthy individuals. Variantyxs Genomic Inform test has been developed to provide important information about disease predisposition risk, and carrier status. The test has applications in disease predisposition screening, newlywed carrier screening, prenatal screening and pharmacogenomics a field of precision medicine that identifies variants which influence how an individual responds to a particular prescribed drug.In terms of market demand, the overall genomic diagnostic market is valued to be greater than $20 billion, most of which is health-insurance driven. It has the potential to grow substantially as the cost of sequencing continues to decrease. In 2019, Francis deSouza, the CEO of Illumina, committed to making the $100 genome a reality. At that price, in the not so distant future, it will be possible to sequence every newborn and make their genomic data available for consultation whenever a clinical decision is made during their lifetime.Variantyx was formed as a spin-out of Tel Aviv University in 2014, and is now 45 team members strong. The idea of Variantyx actually started 10 years ago at the functional genomics lab at Tel Aviv University, headed by Prof. Noam Shomron. He and his PhD students were frustrated by the major bottleneck affecting analysis of patients exome data, as so much of the work had to be done manually. They set about developing a pipeline to more effectively process the information. To tackle the challenge of applying his teams work at the scale needed to help a larger number of patients, Noam teamed up with Tomer Jackman and Haim Neerman. Jackman had played a pivotal role at EMC, helping to develop their big data platform, and naturally wasnt daunted by the vast amounts of data that needed to be processed.Neerman, a serial technology entrepreneur in the area of IT systems and business process automation brought valuable expertise in eliminating time-consuming and error-prone manual steps. They collectively had the foresight to anticipate the shift from exome data to genome data and began building the first version of the companys analytical platform. The same platform is used today to perform its WGS-based Genomic Unity and Genomic Inform testing. The company has been growing rapidly to support the increased demand for its testing.Today, Variantyx is providing answers to rare disease patients and healthy individuals alike, and I personally cant want to see what unfolds as they prepare for a more broad population-based deployment as genome sequencing becomes more affordable, accessible, and penetrates the mainstream.

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Israel's all-in-one test for diagnosis of rare inherited disorders - The Jerusalem Post

A doctor diagnosing a 50-year-old patient based on a blood test taken during the patients infancy would be unthinkable.

Anecdotally speaking, however, thats what Michigan State University scientists have done with corn. Using plant RNA data from 2-week-old corn seedlings, Shinhan Shiu, professor of plant biology and computational mathematics, science and engineering, has shown that farmers and scientists can improve adult crop trait predictions with accuracy that rivals current approaches using DNA, i.e. genetic data.

Traditional breeding methods take months to years, which can be saved if we can predict the desirable traits just from DNA and RNA without growing them, without having to measure the actual traits directly, said Shiu, senior author of the paper appearing in the current issue of The Plant Cell. To continue the human medicine anecdote, its like sequencing an infants RNA and analyzing what sort of traits the infant may develop later in life.

Shiu has long been fascinated with using computational approaches to resolve evolution and genome biology questions. A well-recognized grand challenge in biology is how to connect information in the DNA, or genotype, with traits, or phenotype. Solving this mystery is fundamental to understanding how genetic information is translated into outward traits in any species, Shiu said.

Since RNA is a product of DNA, one step closer to the traits DNA ultimately influences, the RNA blueprints can potentially offer better predictions. Using machine learning approaches, Shiu and his colleagues have taken a step closer to connecting DNA, RNA and the underlying traits.

This is helpful for new breeding programs and may have implications in new ways to do genetic testing, Shiu said. We found that RNA measurements provide additional information that we cannot get from DNA alone.

In terms of reproduction, for example, the team was able to make accurate flowering and yield predictions even before the plants had developed their seed or flower organisms.

Traditional methods using genetic marker-based models identified only one of 14 known genes linked to flowering time as important. However, the gene expression-based model created by Shiu and his colleagues identified five.

Even with this increased accuracy, though, Shius team isnt saying the new method should replace the old.

Our findings are complementary to genetic marker-based prediction and identifies gene expression-trait associations that are not explained by genetic markers, Shiu said. Not only does this help in selection of breeding lines with desirable traits, but also enhances our understanding of the mechanisms involved in these processes.

Future research will work to improve the models accuracy, efficiency and cost.

Additional MSU scientists contributing to the study include Christina Azodi, Jeremy Pardo, Robert VanBuren and Gustavo de los Campos. For more, seethe original paper at http://www.plantcell.org/content/early/2019/10/22/tpc.19.00332.

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Scientists improve yield predictions based on seedling data - Ohio's Country Journal and Ohio Ag Net

Coverage of our peer-reviewed research and news reporting in the healthcare and mainstream press.

Philly Voices piece, Men with testicular cancer may only need one round of chemo, study says, cited an article published onAJMC titled, When Less Is More: Halving Chemo Keeps Testicular Cancer at Bay, Study Finds. The article outlined findings from a study stating that young men who undergo chemotherapy after surgery for testicular cancer may live with side effects for decades.

Dark Daily featured an April 2019 article of AJMC titled, As DTC Genetic Testing Grows Among Consumers, Insurers Are Beginning to Get on Board. The article stated that by 2021, 100 million people will have used a direct-to-consumer genetic test, indicating its growing popularity among healthcare providers and consumers.

A September 2019 article onAJMC titled, Physician Shortage Likely to Impact OB/GYN Workforce in Coming Years, was spotlighted by MedCity News, whichreported that a womens health startup providing care by blending technology and physical clinics has pulled in $45 million to support growth.

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AJMC in the Press, January 10, 2020 - AJMC.com Managed Markets Network

(CN) When the U.S. Fish and Wildlife Service takes a species off the endangered list, the move is typically greeted with effusive praise from wildlife conservation groups and offered as proof that conservation in concert with recovery programs works.

But the delisting of the Kanab ambersnail, which makes its home in the Grand Canyon, is different.

The snail was delisted not because its numbers have rebounded dramatically, but because scientists have concluded the creature in question is likely not that genetically different from other ambersnails distributed throughout the high deserts of southern Utah and northern Arizona.

Available genetic evidence suggests that at least one population identified as Kanab ambersnail is more closely related to other nearby Oxyloma populations than it is to the other two Kanab ambersnail populations, the service said in the final act document released Friday.

In other words, at least one of the Kanab ambersnail populations, which was historically found in three distinct springs in Utah and Arizona, is more related to another ambersnail population found outside the region in question than they are to each other. Oxyloma is the scientific name for ambersnails, which are characterized by translucent shells that appear amber when empty.

They were first discovered by biologist James Ferriss in 1909. Biologists at the time believed the ambersnails in question were genetically distinct but acknowledged more research was required to establish their taxonomic independence.

When the Kanab ambersnails were first listed under the endangered species act in 1992, they were thought to only exist in three separate spots Kanab Creek Canyon and Three Lakes in Utah as well as Vaseys Paradise in Arizona.

Vaseys Paradise is a small spring or seep located about 33 miles downstream from Lees Ferry on the Colorado River. Located squarely within Grand Canyon National Park, it has been protected from development and copious groves of poison ivy deter potential visitors.

But the snail has struggled due to frequent flooding, sometimes caused by water managers releasing large amounts of water from the Glen Canyon Dam situated just upstream.

In Utah, livestock managers entirely depleted a small spring at the Kanab Creek Canyon location outside of the small town, causing the local extinction of the snail there. The species at Three Lakes near Kanab has fared better.

Kanab is a small town on the eastern flank of Zion National Park and on the doorstep of the Grand Staircase-Escalante National Monument, serving as a headquarters for tourists to explore the spectacular scenery of Utahs unique high desert.

While the species recovered somewhat in both places and was introduced to Upper Elves Canyon, also located in the Grand Canyon National Park about 83 miles downstream from Vaseys Paradise, their recovery isnt the reason for delisting as much as additional scientific studies have raised doubt as to whether the Kanab ambersnail is actually distinct from other ambersnail populations that flourish throughout the region.

Specifically, a research team studied the morphology and mitochondrial DNA patterns of the three distinct populations in questions and compared it with those of eight other populations found in Utah and Arizona.

The authors concluded that the three populations of Kanab ambersnail are not a valid subspecies of Oxyloma haydeni and should instead be considered part of the same taxa as ambersnails from the eight other populations of Oxyloma in Utah and Arizona that were sampled for comparison, the service wrote.

The delisting of species on taxonomic reasons is rare but not unheard of. The International Union for Conservation of Nature recognizes such delistings as non-genuine reasons rather than genuine reasons involving the reduction of threats and the introduction of conservation measures such as habitat restoration.

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Genetic Testing Leads to End of Protections for Grand Canyon Snail - Courthouse News Service

As we enter our third decade in the 21st century, it seems appropriate to reflect on the ways technology developed and note the breakthroughs that were achieved in the last 10 years.

The 2010s saw IBMs Watson win a game of Jeopardy, ushering in mainstream awareness of machine learning, along with DeepMinds AlphaGO becoming the worlds Go champion. It was the decade that industrial tools like drones, 3D printers, genetic sequencing, and virtual reality (VR) all became consumer products. And it was a decade in which some alarming trends related to surveillance, targeted misinformation, and deepfakes came online.

For better or worse, the past decade was a breathtaking era in human history in which the idea of exponential growth in information technologies powered by computation became a mainstream concept.

As I did last year for 2018 only, Ive asked a collection of experts across the Singularity University faculty to help frame the biggest breakthroughs and moments that gave shape to the past 10 years. I asked them what, in their opinion, was the most important breakthrough in their respective fields over the past decade.

My own answer to this question, focused in the space of augmented and virtual reality, would be the stunning announcement in March of 2014 that Facebook acquired Oculus VR for $2 billion. Although VR technology had been around for a while, it was at this precise moment that VR arrived as a consumer technology platform. Facebook, largely fueled by the singular interest of CEO Mark Zuckerberg, has funded the development of this industry, keeping alive the hope that consumer VR can become a sustainable business. In the meantime, VR has continued to grow in sophistication and usefulness, though it has yet to truly take off as a mainstream concept. That will hopefully be a development for the 2020s.

Below is a decade in review across the technology areas that are giving shape to our modern world, as described by the SU community of experts.

Dr. Tiffany Vora | Faculty Director and Vice Chair, Digital Biology and Medicine, Singularity University

In my mind, this decade ofastounding breakthroughs in the life sciences and medicinerests on the achievement of the$1,000 human genome in 2016.More-than-exponentially falling costs of DNA sequencinghave driven advances in medicine, agriculture, ecology, genome editing, synthetic biology, the battle against climate change, and our fundamental understanding of life and its breathtaking connections. The digital revolution in DNA constituted an important model forharnessing other types of biological information, from personalized bio data to massive datasets spanning populations and species.

Crucially, by aggressively driving down the cost of such analyses, researchers and entrepreneurs democratized access to the source code of lifewith attendantfinancial, cultural,andethical consequences. Exciting, but take heed: Veritas Geneticsspearheaded a $600 genomein 2019, only to have to shutter USA operations due to amoney trail tangled with the trade war with China. Stay tuned through the early 2020s to see the pricing of DNA sequencing fall even further and to experience the many ways that cheaper, faster harvesting of biological data will enrich your daily life.

Alex Gladstein | Chief Strategy Officer, Human Rights Foundation

The past decade has seen Bitcoin go from just an idea on an obscure online message board to a global financial network carrying more than 100 billion dollars in value. And were just getting started. One recent defining moment in the cryptocurrency space has been a stunning trend underway in Venezuela, where today, the daily dollar-denominated value of Bitcoin traded now far exceeds the daily dollar-denominated value traded on the Caracas Stock Exchange. Its just one country, but its a significant country, and a paradigm shift.

Governments and corporations are following Bitcoins success too, and are looking to launch their own digital currencies. China will launch its DC/EP project in the coming months, and Facebook is trying to kickstart its Libra project. There are technical and regulatory uncertainties for both, but one thing is for certain: the era of digital currency has arrived.

Pascal Finnette | Chair, Entrepreneurship and Open Innovation, Singularity University

For me, without a doubt, the most interesting and quite possibly ground-shifting development in the fields of entrepreneurship and corporate innovation in the last ten years is the rapid maturing of customer-driven product development frameworks such as Lean Startup, and its subsequent adoption by corporates for their own innovation purposes.

Tools and frameworks like the Business Model Canvas, agile (software) development and the aforementioned Lean Startup methodology fundamentally shifted the way we think and go about building products, services, and companies, with many of these tools bursting onto the startup scene in the late 2000s and early 2010s.

As these tools matured they found mass adoption not only in startups around the world, but incumbent companies who eagerly adopted them to increase their own innovation velocity and success.

Ramez Naam | Co-Chair, Energy and Environment, Singularity University

The 2010s were the decade that saw clean electricity, energy storage, and electric vehicles break through price and performance barriers around the world. Solar, wind, batteries, and EVs started this decade as technologies that had to be subsidized. That was the first phase of their existence. Now theyre entering their third, most disruptive phase, where shifting to clean energy and mobility ischeaper than continuing to useexistingcoal, gas, or oil infrastructure.

Consider that at the start of 2010, there was no place on earth where building new solar or wind was cheaper than building new coal or gas power generation. By 2015, in some of the sunniest and windiest places on earth, solar and wind had entered their second phase, where they were cost-competitive fornewpower. And then, in 2018 and 2019, we started to see the edge of the third phase, as building new solar and wind, in some parts of the world, wascheaper thanoperatingexisting coal or gas power plants.

Liz Specht, Ph. D | Associate Director of Science & Technology, The Good Food Institute

The arrival of mainstream plant-based meat is easily the food tech advance of the decade. Meat analogs have, of course, been around forever. But only in the last decade have companies like Beyond Meat and Impossible Foods decided to cut animals out of the process and build no-compromise meat directly from plants.

Plant-based meat is already transforming the fast-food industry. For example, the introduction of the Impossible Whopper led Burger King to their most profitable quarter in many years. But the global food industry as a whole is shifting as well. Tyson, JBS, Nestle, Cargill, and many others are all embracing plant-based meat.

Jody Medich | CEO, Superhuman-x

The breakthrough moment for augmented and virtual reality came in 2013 when Palmer Lucky took apart an Android smartphone and added optic lenses to make the first version of the Oculus Rift. Prior to that moment, we struggled with miniaturizing the components needed to develop low-latency head-worn devices. But thanks to the smartphone race started in 2006 with the iPhone, we finally had a suite of sensors, chips, displays, and computing power small enough to put on the head.

What will the next 10 years bring? Look for AR/VR to explode in a big way. We are right on the cusp of that tipping point when the tech is finally good enough for our linear expectations. Given all it can do today, we cant even picture whats possible. Just as today we cant function without our phones, by 2029 well feel lost without some AR/VR product. It will be the way we interact with computing, smart objects, and AI. Tim Cook, Apple CEO, predicts it will replace all of todays computing devices. I cant wait.

Alix Rbsaam | Faculty Fellow, Singularity University, Philosophy of Technology/Ethics of AI

The last decade has seen a significant shift in our general attitude towards the algorithms that we now know dictate much of our surroundings. Looking back at the beginning of the decade, it seems we were blissfully unaware of how the data we freely and willingly surrendered would feed the algorithms that would come to shape every aspect of our daily lives: the news we consume, the products we purchase, the opinions we hold, etc.

If I were to isolate a single publication that contributed greatly to the shift in public discourse on algorithms, it would have to be Cathy ONeils Weapons of Math Destruction from 2016. It remains a comprehensive, readable, and highly informative insight into how algorithms dictate our finances, our jobs, where we go to school, or if we can get health insurance. Its publication represents a pivotal moment when the general public started to question whether we should be OK with outsourcing decision making to these opaque systems.

The ubiquity of ethical guidelines for AI and algorithms published just in the last year (perhaps most comprehensively by the AI Now Institute) fully demonstrates the shift in public opinion of this decade.

Ola Kowalewski | Faculty Fellow, Singularity University, Data Innovation

In the last decade we entered the era of internet and smartphone ubiquity. The number of internet users doubled, with nearly 60 percent of the global population connected online and now over 35 percent of the globe owns a smartphone. With billions of people in a state of constant connectedness and therefore in a state of constant surveillance, the companies that have built the tech infrastructure and information pipelines have dominated the global economy. This shift from tech companies being the underdogs to arguably the worlds major powers sets the landscape we enter for the next decade.

Darlene Damm | Vice Chair, Faculty, Global Grand Challenges, Singularity University

The biggest breakthrough over the last decade in social impact and technology is that the social impact sector switched from seeing technology as something problematic to avoid, to one of the most effective ways to create social change. We now see people using exponential technologies to solve all sorts of social challenges in areas ranging from disaster response to hunger to shelter.

The worlds leading social organizations, such as UNICEF and the World Food Programme, have launched their own venture funds and accelerators, and the United Nations recently declared that digitization is revolutionizing global development.

Raymond McCauley | Chair, Digital Biology, Singularity University, Co-Founder & Chief Architect, BioCurious; Principal, Exponential Biosciences

CRISPR is bringing about a revolution in genetic engineering. Its obvious, and its huge. What may not be so obvious is the widespread adoption of genetic testing. And this may have an even longer-lasting effect. Its used to test new babies, to solve medical mysteries, and to catch serial killers. Thanks to holiday ads from 23andMe and Ancestry.com, its everywhere. Testing your DNA is now a common over-the-counter product. People are using it to set their diet, to pick drugs, and even for dating (or at least picking healthy mates).

And were just in the early stages. Further down the line, doing large-scale studies on more people, with more data, will lead to the use of polygenic risk scores to help us rank our genetic potential for everything from getting cancer to being a genius. Can you imagine what it would be like for parents to pick new babies, GATTACA-style, to get the smartest kids? You dont have to; its already happening.

Neil Jacobstein | Chair, Artificial Intelligence and Robotics, Singularity University

The convergence of exponentially improved computing power, the deep learning algorithm, and access to massive data resulted in a series of AI breakthroughs over the past decade. These included: vastly improved accuracy in identifying images, making self driving cars practical, beating several world champions in Go, and identifying gender, smoking status, and age from retinal fundus photographs.

Combined, these breakthroughs convinced researchers and investors that after 50+ years ofresearch and development, AI was ready for prime-time applications. Now, virtuallyevery field of human endeavor is being revolutionized by machine learning. We still have a long way to go to achieve human-level intelligence and beyond, but the pace of worldwide improvement is blistering.

Hod Lipson | Professor of Engineering and Data Science, Columbia University

The biggest moment in AI in the past decade (and in its entire history, in my humble opinion) was midnight, Pacific time, September 30, 2012: the moment when machines finally opened their eyes. It was the moment when deep learning took off, breaking stagnant decades of machine blindness, when AI couldnt reliably tell apart even a cat from a dog. That seemingly trivial accomplishmenta task any one-year-old child can dohas had a ripple effect on AI applications from driverless cars to health diagnostics. And this is just the beginning of what is sure to be a Cambrian explosion of AI.

Divya Chander | Chair, Neuroscience, Singularity University

If the 2000s were the decade of brain mapping, then the 2010s were the decade of brain writing. Optogenetics, a technique for precisely mapping and controlling neurons and neural circuits using genetically-directed light, saw incredible growth in the 2010s.

Also in the last 10 years, neuromodulation, or the ability to rewire the brain using both invasive and non-invasive interfaces and energy, has exploded in use and form. For instance, the Braingate consortium showed us how electrode arrays implanted into the motor cortex could be used by paralyzed people to use their thoughts to direct a robotic arm. These technologies, alone or in combination with robotics, exoskeletons, and flexible, implantable, electronics also make possible a future of human augmentation.

Image Credit: Image by Jorge Guillen from Pixabay

Continued here:
Tech's Biggest Leaps From the Last 10 Years, and Why They Matter - Singularity Hub

When a patient who would not normally be recommended for CDH1 genetic testing that is, someone without a family history of gastric cancer undergoes genetic testing with a multigene panel that includes detection of CDH1, the results can be difficult to interpret.

Patients may learn that they carry a pathogenic CDH1variant, which is associated with hereditary diffuse gastric cancer syndrome andalthough the gastric cancer risk is unclear in the absence of a family history,this information may lead to a clinician recommending risk-reducing totalgastrectomy.

Total gastrectomy can lead to long-term morbidity, includinghaving dumping syndrome, weight loss, and nutritional and metaboliccomplications.

Therefore, the discovery of an unexpected CDH1 variant on a multigene panel testin the absence of a family history of gastric cancer can create a difficultconundrum for clinicians and patients, the authors of a commentary publishedin the Journal of the National Cancer Institute explained.1

These challenging situations are being increasinglyencountered in practice, the authors revealed, noting that CDH1 isincluded on many commonly ordered cancer-focused multigene panels.

The concern with unexpected CDH1 variants is there areconsiderable uncertainties regarding CDH1variants and their management. Specifically, the degree of gastric cancer riskassociated with CDH1 variants in patients without a family history ofgastric cancer is uncertain. Furthermore, there is uncertainty about thecancer risk of specific CDH1 variants and limited understanding of thefactors that promote progression of small foci of signet ring cell carcinoma todiffuse gastric cancer in CDH1 carriers.

Despite these uncertainties, excluding CDH1 frommultigene panels may not be a long-term solution because of the increased timeand labor burdens imposed on genetic counselors, the authors of a correspondingeditorial wrote.2

Instead, as the commentary authors propose, patients should beinformed of the uncertainties surrounding CDH1 during pretest counseling,as well as told that if a CDH1 variant is discovered, risk-reducingtotal gastrectomy is the near-global recommendation.

References

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Unexpected CDH1 Variants Lead to Uncertainty, Experts Warn - Cancer Therapy Advisor

Los Angeles, United State,January 2020 :

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

Major players profiled in the report

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

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This report focuses on the global top players, covered23andMeMyHeritageLabCorpMyriad GeneticsAncestry.comQuest DiagnosticsGene By GeneDNA Diagnostics CenterInvitaeIntelliGeneticsAmbry GeneticsLiving DNAEasyDNAPathway GenomicsCentrillion TechnologyXcodeColor GenomicsAnglia DNA ServicesAfrican AncestryCanadian DNA ServicesDNA Family CheckAlpha BiolaboratoriesTest Me DNA23 MofangGenetic HealthDNA Services of AmericaShuwen Health SciencesMapmygenomeFull Genomes

Market segment by Regions/Countries, this report coversNorth AmericaEuropeChinaRest of Asia PacificCentral & South AmericaMiddle East & Africa

Market segment by Type, the product can be split intoDiagnostic ScreeningPGDRelationship testing

Market segment by Application, the market can be split intoOnlineOffline

Market Forecasting

Besides short-term and long-term estimations related to the global Direct-Access Genetic Testing market, we provide you with demand, consumption, growth, and various other forecasts. We take your specific requirements into consideration and provide you the most applicable forecasts for the market. You can simplify your critical decision-making process using our forecasts on the global market. Our unbiased insights into critical aspects of the market will assist you to strengthen your market position and ensure lasting success in the long run. They will also help you to address the challenges you face in the market when reaching your milestones.

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Our analysts are not only experts in preparing accurate and detailed market research reports but also customizing them according to your business needs. We can customize this entire report on the global Direct-Access Genetic Testing market and also specific sections such as financial analysis, competitive intelligence, insights and innovation, target market analysis, strategy and planning, and market analysis. Our report customization can cover merger and acquisition screening, IPO prospectus, economic impact analysis, industry benchmarking, competitive landscape, due diligence, and company analysis.

Apart from the sections mentioned above, our report on the global Direct-Access Genetic Testing market can be customized keeping in view other aspects such as research and development landscape, patent analysis, product competition, mega trend analysis, marketing mix modeling, go-to-market strategy, technology, B2B survey, and strategic frameworks. Furthermore, you can ask for customization of market scenario analysis, strategic recommendations, market potential analysis, identification of opportunities, market forecasting, market entry, market sizing, market attractiveness, and market segmentation.

Table of Contents

Study Coverage: This is the first section of the report that includes highlights of market segmentation, years covered, study objectives, major manufactures of the global Direct-Access Genetic Testing market, and product scope.

Executive Summary: Here, the report sheds light on production, revenue, consumption, and capacity of the market. It also brings to light macroscopic indicators, drivers, restraints, and trends of the market.

Manufacturer Profiles: This section gives broad analysis of key players of the global Direct-Access Genetic Testing market on the basis of different factors such as recent developments, market share, and gross margin. It also provides SWOT analysis.

Production by Region: All of the regions analyzed in the report are studied here based on key factors such as production, revenue, market share, and import and export.

Consumption by Region: Each regional market studied here is analyzed on the basis of consumption and consumption share of the global market.

Market Size by Product: It includes price, revenue, and market breakdown analysis by type of product.

Market Size by Application: It includes consumption, breakdown data, and consumption share analysis by application.

The report answers several questions about the Direct-Access Genetic Testing market includes:

What will be the market size of Direct-Access Genetic Testing market in 2025?What will be the Direct-Access Genetic Testing growth rate in 2025?Which key factors drive the market?Who are the key market players for Direct-Access Genetic Testing?Which strategies are used by top players in the market?What are the key market trends in Direct-Access Genetic Testing?Which trends and challenges will influence the growth of market?Which barriers do the Direct-Access Genetic Testing markets face?What are the market opportunities for vendors and what are the threats faced by them?What are the most important outcomes of the five forces analysis of the Direct-Access Genetic Testing market?

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Global Direct-Access Genetic Testing outlook by product overview application and regions 2025| 23andMe, MyHeritage, LabCorp - Instanews247

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The U.S. Department of Defense circulated a memo warning troops against using inexpensive home genetic testing kits. The memo cited the possibility of troops getting incorrect information about their genetic medical history but also the possibility that unknown parties could use the information to create security consequences that pose a risk to military operations.

According to an exclusive by Yahoo News, the memo warns soldiers, sailors, Marines and airmen that, [direct-to-consumer] genetic tests are largely unregulated and could expose personal and genetic information, and potentially create unintended security consequences and increased risk to the joint force and mission. The memo does not explain what those unintended security consequences are.

The genetic testing industry promises to unlock the secrets of your genetic past, presenting customers with a full genetic breakdown that includes family history and genetic predispositions to certain diseases and disorders. One issue is that the industry is largely unregulated. Although some companies have strict privacy concerns, others have been known to share information with law enforcement and others without the direct consent of their customers.

Typically genetic testing companies share anonymized datadata stripped of personal information. But in February 2019, FamilyTreeDNA revealed it regularly gave the FBI access to its database, allowing it to compare crime scene DNA against the genetic information of its customers. Such testing has provided key evidence in many unsolved crime cases, including the investigation that eventually caught the Golden State Killer.

The Pentagon isnt concerned about that sort of sharing. Instead, its likely more concerned about what happens if a potentially hostile foreign government gains access to genetic testing databases. For example, foreign governments could use the data to gather compromising information on individual military personnel, using it blackmail people into committing acts of espionage...or worse.

The total U.S. military population is 3.5 million, with several million more spouses and dependents. Thats a big chunk of the genetic testing pool suddenly off-limits to testing companies. The Pentagons warning, while seemingly premature, could lead to industry-wide reforms in the genetic testing business. That could lead to a better consumer experience for all Americans seeking to learn more about their genetic historywhile preventing adversaries from using the same for nefarious purposes.

Source: Yahoo News

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If You're in the Military, Maybe Don't Take That Home Genetic Test - Popular Mechanics

NEW YORK, Dec. 30, 2019 /PRNewswire/ --

The Asia Pacific prenatal and newborn genetic testing market is expected to reach US$ 1,679.956 Mn in 2027 from US$ 630.914 in 2018. The market is estimated to grow with a CAGR of 11.6% from 2019-2027.

Read the full report: https://www.reportlinker.com/p05833588/?utm_source=PRN

The key factors responsible for the growth of the market in Asia Pacific are rising burden of genetic diseases among infants, increasing fertility rates and developing healthcare scenario with rising awareness among populace regarding the benefits of prenatal testing.On the other hand, use of digital microfluidics in newborn testing is likely to be a prevalent trend in the future years.

Soaring birth rates among developing economies are responsible for fueling global baby boom.However, the rising birth rate also contributes to rising birth defects and infants suffering from several genetic diseases.

According to a report published by Bill and Melinda Gates Foundation in 2018, there are almost 250 babies born every minute around the globe. Moreover, according to the Centers for Disease Control and Prevention, the fertility rates for Hispanic women was highest in 2017 among Hispanic women with 67.1 births per 1,000 women.Asian countries such as India and China also have high fertility rates due to factors such as effects of religion, inadequate supply of family welfare services, poverty, and others. According to the World Bank in 2016, the fertility rates in India were reported to be 2.23 births per women as compared to 1.80 in the United States and 1.62 in China. Moreover, neighboring countries, such as Pakistan also have alarming rates of fertility. In 2016, the birth rate in Pakistan was reported to be 3.48 births per woman as per the World Bank data. However, the birthrate in India has successfully reduced its high fertility rate, but still is high as compared to other developed nations. According to the United Nations (UN) report published on June 2019, the fertility rate has reduced to 2.1. Therefore, by 2050 additional 273 million people will be added to India's population. The increasing number of parturient women across the world are thus likely to create increasing demand for prenatal and newborn genetic tests across the globe leading to the growth of the market.The Asia Pacific prenatal and newborn genetic testing market, based on the disease indication was segmented into cystic fibrosis, sickle cell anemia, downs syndrome, phenylketonuria, recurrent pregnancy loss, and Antiphospholipid syndrome, and other diseases.In 2018, Down syndrome segment held the largest share of the market, by disease indication.

The highest share of Down syndrome attributes to the high prevalence of this genetic abnormality among fetuses and availability of multiple tests for its screening and diagnostics. However, the sickle cell anemia segment is expected to grow at the fastest rate during the coming year.Some of the major primary and secondary sources for prenatal and newborn genetic testing included in the report are Food & Drug Administration (FDA), Indian Institutes of Technology (IITs), International Trade Administration (ITA), Japan Society of Obstetrics and Gynecology (JSOG), Council of Scientific and Industrial Research (cSIR), Pakistan Down Syndrome Association (PDSA) and others.

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The Asia Pacific prenatal and newborn genetic testing market is expected to reach US$ 1,679.956 Mn in 2027 from US$ 630.914 in 2018 - PRNewswire

What Can Genes Tell Me About My Cancer Risk?

Before pursuing any kind of genetic testing, it is important to understand that the majority of cancers are not the direct result of genes passed down from your parents. Inherited gene changes sometimes called mutations or variants contribute to somewhere between 5 and 10 percent of all cancers. For that reason, genetic testing and counseling is typically recommended only for people who have had certain types of inherited cancer or who have histories of cancer within their family.

Genetic testing allows healthcare providers to look for inherited gene mutations associated with increased cancer risk, such as BRCA1 and BRCA2 gene changes that have a clear tie to breast and ovarian cancer. For example, women in the general population have roughly a 12 percent chance of developing breast cancer in their lifetime; for women with BRCA mutations, it is closer to 70 percent, according to the NCI. Understanding that risk can help a woman and her healthcare providers plan prevention strategies.

RELATED: My Genetic Test Came Back BRCA Positive. Now What?

Medical-grade genetic cancer testing is typically ordered by your doctor or a specialist, such as a genetic counselor. The tests are noninvasive and typically use a blood or saliva sample.

"Medical-grade testing is developed and approved to answer medical questions [such as]: 'Do I carry a mutation in one of these hereditary cancer genes?'" says Ellen Matloff, the president and CEO of My Gene Counsel, a company that helps clients better understand their genetic testing results, and the former director of the cancer genetic counseling program at Yale University School of Medicine in New Haven, Connecticut. "At-home testing kits are for entertainment and are not developed, or approved, to answer medical questions."

There are several reasons for that. Medical-grade testing is far more thorough, Matloff says. For example, medical-grade testing for BRCA gene mutations analyzes thousands of gene variant options, whereas one leading at-home kit considers just three.

There are also differences in accuracy. A study published in March 2018 in the journal Genetics in Medicine found that 40 percent of gene variants reported in direct-to-consumer tests were false positives and that some of the variants companies told users meant they were at increased risk for certain health conditions are actually considered common gene variants by clinical labs.

An unpublishedstudy presented in October 2019 by Invitae, a medical-grade genetic testing company, found that an individual's ethnicity may have a significant impact on whether their at-home test results are accurate. MUTYH gene mutations, for example, would have been missed in 100 percent of Asian and 75 percent of African American test takers, but only 33 percent of Caucasian individuals.

"Medical-grade testing uses laboratory techniques and validation methods not used by most at-home testing kits," Matloff explains. "So those results are generally more accurate."

Health insurance plans will often cover genetic testing which can cost thousands of dollars but not always, according to the U.S. National Library of Medicine and Breastcancer.org. Direct-to-consumer genetic cancer risk tests tend to be less expensive, so they can be a good starting point for people who are worried about their family history and who do not want to spend too much.

"There are some at-home genetic cancer testing kits that are good, reasonably priced, and convenient for people who do not meet insurance criteria for coverage of traditional medical-grade testing and prefer to pay out of pocket and have the test delivered to their house," Matloff says.

But it is important to remember that everyone from the American Cancer Society to the U.S. Food and Drug Administration (FDA) caution that the tests may provide incomplete or inaccurate information, and urge individuals to talk to their doctors before making any health-related decisions on the basis of those tests.

Read more:
What to Know Before You Buy an At-Home Genetic Cancer Risk Test - Everyday Health

Private Letter Rulings from the IRS provide useful guidance on how they view and will handle certain situations, even if identifying information is redacted from the letter. A recent redacted ruling focused on ancestry genetic testing and whether those costs are payable by a Health Flexible Spending Account (FSA). The IRS found that at least a portion of the test could be covered by funds from a Health FSA, as the testing is medical care.

Deducting Expenses for Medical Care

The IRS allows taxpayers to deduct medical expenses if they exceed 10% of the individuals adjusted gross income. This includes expenses for the diagnosis, cure, mitigation, treatment, and prevention of illness and disease and includes medical and other diagnostic services. Expenditures that are for the general health of a person, such as menstrual products, are not considered medical care. The IRS already allows individuals to break out fees where some portion of the fee covers medical care. This includes, for example, lump sum student services fees where part of the fee is for medical care.

Similarly, a diagnosis includes determination on whether a disease is present and includes tests that show the disease is not present and tests of changes in bodily function. Pregnancy tests, full-body scans, and other diagnostic tests performed without a physicians recommendation are still considered medical care and can be reimbursed from a Health FSA.

IRS Private Ruling

While much of the information in the letter was redacted, we do know that the question concerned whether a taxpayer with an FSA could use the FSA to purchase a genetic testing service that includes a report on the taxpayers ancestry and health. The kit collects a DNA sample which is sent to the testing service. The testing service then sends the sample to a third party laboratory for genotyping. The results from the lab are sent back to the testing service for analysis.

The stated goal of the genetic testing was to get individuals to provide genetic information to their healthcare providers. Individuals could not purchase the health-related services from the testing company without also purchasing the ancestry services. However, in order to use a Health FSA to cover genetic testing, the testing must be defined as medical care. The IRS ruled that portions of the testing, such as genotyping and ancestry reports, are not medical care, but other services offered by the service would be considered medical care. The taxpayer is left to allocate the cost between these non-medical services and the medical services provided. The taxpayer must use a reasonable method to allocate value between the services provided. The testing service, however, is not required to provide this data to the taxpayer.

Read more:
IRS Deems Portion of Ancestry Genetic Testing Payable by Health FSA - Lexology

It was quite a year for the Jews of the Bay Area. From TV shows to Barbie Death Camp to white supremacists to racial diversity in the Jewish community, here are the 10 stories our online readers clicked on the most in 2019.

It was a big year for Israeli TV in America. One show in particular, Shtisel, became an unlikely crossover hit among American viewers when the 2013-2016 series about the travails of a haredi family in Jerusalem hit Hulu late last year. As our TV reviewer Esther D. Kustanowitz wrote in January, there are some universal themes about family, community and change that kept mainstream audiences fascinated by the show:

In September, we brought you perhaps the strangest piece of news we covered this year: the curious case of Burning Mans Barbie Death Camp display. Heres how reporter Gabe Stutman described it: A sea of nude Barbies is seen moving toward three full-size kitchen ovens. Some are crucified on bright pink crosses. Other photos show toy soldiers with semi-automatic rifles marching the Barbies from the rear. A banner strapped to an RV proclaims the Barbie Death Camp the friendliest concentration camp at Burning Man. Another reads arbeit macht plastik frei, a reference to the message over the Auschwitz gate meaning work makes you free.

Some might say its the least Jewish story we wrote this year, but I beg to differ. My visit to the recently remodeled Church of Jesus Christ of Latter-day Saints Temple in Oakland was a personal highlight of the year. It was the first time it had been open to the public in over 50 years, and the visit did not disappoint. As I wrote at the time: I was there out of my love of religious architecture and because Id heard that [Mormon temples] include architectural references to the Mishkan (the portable sanctuary used by the Israelites as they wandered in the desert), as well as the ancient Temples that stood on Jerusalems Temple Mount.

No one article about him truly topped the list, but weve been covering the story since the 24-year-old Concord man was arrested in June and accused of plotting online to shoot Jews. Police found a weapons cache and Nazi literature in his home. He has been in and out of court and jail since then. Last month, a federal charge was added: In 2017, he falsified an application to join the Army by lying about his mental health history, according to the FBI. His bail has been revoked and he remains in custody as his case progresses.

This profile of iconoclastic billionaire Craig Newmark, founder of Craigslist, was the first in-depth interview he has given about his Jewish upbringing and values. More and more Im conscious of the notion of treating people like I want to be treated, and more and more Im conscious of the notion that I got lucky financially and I should share that in ways that mean something, he told our late colleague Rob Gloster in April.

The 2018 Portrait of Bay Area Jewish Life and Communities revealed that one-quarter of local Jewish households include at least one person of color. In our Jan. 25 editorial, we wrote: Its time we acknowledge not only the tendency to make Jews the other in broader society, but the equally pernicious tendency to other Jews of color right here within our own community. Our cover story is replete with stories from Jews of color being stared at or questioned when they show up in synagogue, and being passed over for leadership positions. But we also highlighted ways in which the situation is changing for the better.

Remember this years middling Netflix film The Red Sea Diving Resort, based on the secret Israeli plan to extract Ethiopian Jews through Sudan in the early 80s? Yeah, theres no reason you should. Much more interesting is the real-life story of one of the Israeli naval commandos who took part in the operation. Nir Merry lives in Mountain View today, and as he told editorial assistant Gabriel Greschler, during the operation he spent nights picking up Ethiopian Jews who had hiked for days, sometimes weeks, to reach the rendezvous point. He recalled avoiding armed Sudanese patrols on the coastline and ferrying the refugees to a disguised Israeli Navy ship in the Red Sea. We were tired but really excited, Merry said. I remember picking [up] an [Ethiopian] lady and you could hear little squeaks. And I realized it was a baby tucked in her dress close to her body.

Just last week, Adam Eilath, head of school at Ronald C. Wornick Jewish Day School in Foster City, registered his dismay at the Hanukkah-themed episode of the Disney series Elena of Avalor. In his opinion piece he wrote, As a Sephardic Jew raising two small daughters in an American Jewish community whose default is almost always Ashkenazi. I was excited that the episode would feature Princess Rebekah from a Latino (Ladino) Jewish kingdom. But, he continued, As usual, the only way that Sephardic culture gets represented in this episode is by incorporating Sephardic food.

This story was part of a three-part series on the rise of home genetic testing and the ease of doing genealogical research from the comfort of your home computer. One woman we spoke with grew up Catholic, but found out that she was 50% Asheknazi Jewish from a 23andMe home genetic test. But, as reporter Maya Mirsky asks, what does that really mean? The question itself is a new wrinkle in the age-old debate of just what it means to be Jewish, which has been given a kick in the pants from the commercialization of a field of science that says it can tell you something new: For a price, you can now choose from one of seven commercial genetic tests to find out just how Jewish you are.

In October we reported on a Nazi flag seen hanging inside a state parole office in Sacramento. How did it get there? And why was it hanging in a government building? The California Department of Corrections and Rehabilitation told us in an email that they have a zero tolerance policy for the display of objects that are derogatory in nature, but they pointed out that their officers deal with gang members and high-risk sex offenders, [so] we will come into contact with items that may be considered objectionable. However, the email continued, We take this issue seriously and have removed the item and are looking into the circumstances for why the flag was displayed in potential view of the public. No word yet on what they found out.

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Our 10 most read stories of 2019: genetics, TV, 'Barbie Death Camp' and more - The Jewish News of Northern California

The global Preimplantation Genetic Testing market study presents an all in all compilation of the historical, current and future outlook of the market as well as the factors responsible for such a growth. With SWOT analysis, the business study highlights the strengths, weaknesses, opportunities and threats of each Preimplantation Genetic Testing market player in a comprehensive way. Further, the Preimplantation Genetic Testing market report emphasizes the adoption pattern of the Preimplantation Genetic Testing across various industries.

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Preimplantation Genetic Testing Market Offered in New Research Forecasted through 2022 - News Cast Report

GlobalDirect-to-Consumer Genetic Testing (DTC-GT)Market Growth 2019-2024presents key insights on market-related factors such as market size, latest & future trends, competition, forecasts from 2019 to 2024. The data served in this report has been carefully analyzed in the various models. The report covers theDirect-to-Consumer Genetic Testing (DTC-GT)market overview, summary, market dynamics, major leading players, competitive analysis, and leading players various strategies as well as shows the status of regional development, consisting of market value, volume, size, and price data. The research study contains includes analysis of the impact of current market trends and conditions that analysts use to make predictions on future market expansion.

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Market Overview In Brief:

Moreover, the report gives an extensive analysis of key drivers, opportunities, challenges, restraints, trends, leading market players, key segments, and regions. Additionally, the performance of each player active in the globalDirect-to-Consumer Genetic Testing (DTC-GT)market has been analyzed. Apart from this, a comprehensive analysis of consumption, market share, and growth rate of each application is presented in this report. With the help of charts, tables, figures, numbers, and graphs, the study provides a detailed study of the growth rate of every segment of this market. Key players have been studied depending on product portfolio, company profile, capacity, price, price, and earnings.

Key players mentioned in the market research report:EasyDNA, Ancestry.com LLC, 24Genetics, Genebase, Dante Labs, MyHeritage, Atlas Biomed, Mapmygenome, Family Tree DNA

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The chapter on regional segmentation details the regional aspects of the globalDirect-to-Consumer Genetic Testing (DTC-GT)market. This section explains the regulatory framework that is likely to impact the overall market. This research report consists of the worlds crucial region market share, size (volume), trends including the product profit, price, value, production, capacity, capability utilization, supply, and demand and industry growth rate.

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Global Direct-to-Consumer Genetic Testing Market Report 2019 Technology Development, Research Study and Forecasting 2024 - The Picayune Current

US Pentagon in Washington DC.

For years, many of us in the genetics community have strongly suggested thatconsumers think long and hard beforeordering recreational genetic test kits for Christmas or any other occasion. But when thePentagon sends a stern warningto its military members, even Santa needs to listen.

Military Mission at dusk

Why would the Pentagon be worried about our military using at-home DNA kits?A memo issued to service membersfrom the Office of the Secretary of Defensestates that recreational genetic kits could give military personnel inaccurate information about their health. These inaccurate results couldhave negative professional consequences,particularly because military members, who are required to report medical problems, are not covered bytheGenetic Information Nondiscrimination Act (GINA),which prohibits genetic discrimination by employers and health insurers.

It is already well known that thesekits should not be usedto answer serious medical questions based on a personal or family history of disease. Anyone with such a history shouldconsult a certified genetic counselorto ensure that an accurate test is ordered and interpreted correctly.The Pentagon concurs, saying they dont advise against genetic testing altogether, but recommend that service members get genetic information from a licensed professional rather than a recreational kit.

But are there other reasons the Pentagon may be warning against recreational genetic test kits? Couldthis genetic information lead to genetic surveillance, tracking, and grave privacy concerns for military personnel and others who use these kits?

China has already demonstratedthat genetic technology and research findings, intended to help people, can instead be used to harm. It is believed that the Chinese government has collected DNA samples from its citizens throughmandatory physicals to create a large databasethats being used to weed out up to one million Uighurs to be sent toconcentration camps. Although U.S. citizens, thankfully, enjoy greater protections than those in China, this example illustrates that our DNA can give insight into ancestry and ethnic origins that can be used for grave harm.

In fact, genetic data can reportedly be usedto determine how gay a person is, and if you are a 23andMe user who shared your data for research, you may have contributed to this study. Could DNA data be used to determine if military personnel may be gay? And if so, could that information beused against them?

And, of course, none of these companies can guarantee that their databases wont be hacked,as has happened in the past. Recently, GEDmatch, the genealogy company used to track down the Golden State Killer, wasacquired by a company created to work with crime labs. Other testing companies have chosen toshare their user data with the FBI.How will all of this consumer data be used, for good or evil? The truth is, we dont know.

finger print with DNA code at background

What we do know is thatundercover military agentscould likely be identified using a small sample of blood or saliva and large DNA databases. This may be true whether or not they personally have undergone recreational genetic testing,since one of their relatives probably has. For our military working undercover, this means that anonymity is likely a thing of the past.

Read more:
Why The Pentagon Is Warning US Military Not To Use Recreational Genetic Test Kits - Forbes

When Anne Weber became pregnant with her first child at age 28, little did she suspect that, rather than bringing home a bundle of joy, she would have to contend with a cancer diagnosis that would change the course of her life.

At her first ultrasound, not only did she find out that she had miscarried but also that she had a large cyst on one of her ovaries. That cyst turned out to be cancer.

"Because I didn't have a strong family history of cancer, everyone assumed it would be benign," she recalled in an interview with Medscape Medical News. "We were all very surprised when the pathology report came back with ovarian cancer."

Although the incidental finding may have been heartbreaking, it may also have been lifesaving. Because it was caught early, her ovarian cancer was of stage I. She underwent surgery and is now telling her story, 10 years later.

Weber is now a patient advocate at FORCE (Facing Our Risk of Cancer Empowered), a national nonprofit organization dedicated to individuals affected by hereditary breast, ovarian, and related cancers, andpreviously worked for a while at genetic testing company Myriad Genetics.

How Weber developed ovarian cancer at such a young age was initially a mystery. Without a family history and without symptoms or personal risk factors for it, her physician did not suspect a hereditary cancer even though at the time, National Comprehensive Cancer Network (NCCN) guidelines recommended that physicians consider genetic testing for anyone younger than 50 who are found to have ovarian cancer. However, her physician didn't offer genetic testing, or even counsel her about it.

Weber was left with nagging questions. She wanted to know why she'd gotten ovarian cancer and how she could prevent a recurrence. So she started sleuthing around on the Internet.

"When I was diagnosed, I knew nothing about this. Literally, I didn't know what terms to type into the search engine," she said.

When she stumbled onto an online forum that linked her to the NCCN guidelines, the pieces of the puzzle began fitting together.

This was 2009, and she was living in Atlanta at the time. She asked her physician about genetic testing, and her doctor referred her to the only genetic counselor in the city, who was at Emory University. At that time, the wait time for genetic testing was 6 months.

"Six months when you're dealing with something like cancer can be pretty dire," Anne said.

Genetic testing for breast and ovarian cancer has not always been straightforward, and fast-moving research means that genetic testing is becoming more and more complex all the time.

The NCCN may have recently provided a step in the right direction. On December 4, the NCCN released updated clinical practice guidelines on genetic/familial high-risk assessment for breast and ovarian cancer.

The guidelines represent a fairly radical shift from previous recommendations, which focused on BRCA genes, according to Robert Pilarski, MS, LGC, MSW, LSW, a genetics counselor and professor of clinical internal medicine at Ohio State University's Comprehensive Cancer Center. He was also vice chair of the NCCN guidelines panel that updated the guidelines.

The NCCN recommendations remain anchored in strong, unbiased evidence and reflect a conservative approach regarding genes for which there is lack of evidence, he said. But the guidelines also acknowledge a shift toward panel testing and include a table of 17 moderate- and high-penetrance genes that should be considered in addition to BRCA genes. They also provide management recommendations for people who carry these genes.

"Most people now are doing panel testing where the panel involves multiple genes besides BRCA," Pilarski said, "This guideline update is the closest that we've got to a consensus [regarding breast, ovarian, and pancreatic cancer] because it now specifies a set of genes that are reasonable to include in at least a basic panel."

The use of multigene panels is controversial, as previously reported by Medscape Medical News. A study published in early 2019 in the Journal of Clinical Oncology suggested that roughly half of breast cancer patients who carry a pathogenic or likely pathogenic mutation are missed by current genetic testing guidelines. That study used an 80-gene panel, and the authors recommended expanded panel testing for all patients with breast cancer.

Critics shot back, arguing that universal testing is not warranted and that large, multigene panels may create undue anxiety among patients as well as confusion among physicians. Research is in its infancy for many of these genes, and physicians don't know how or even whether to act on results for some of them. That's especially true for variants of unknown significance, which have not been confirmed to increase risk for disease.

Perhaps in response to this controversy, the NCCN guidelines do not recommend universal testing for breast or ovarian cancer. Instead, they provide clinical scenarios in which genetic testing is clinically indicated, may be considered, or has low probability of clinical utility. The NCCN authors hedge their bets by not endorsing for or against multigene panel testing.

"I think we held back from becoming too definitive because there may be times when other genes are appropriate," Pilarski explained. "We didn't want to lock patients out of insurance coverage, and we didn't want to lock ourselves into a set of genes that could change next week with changing evidence."

This "wishy-washiness" over multigene panels creates a problem for Mehmet Copur, MD, FACP, an oncologist who wrote a critical response to the study published earlier this year. He is affiliated with the Morrison Cancer Center in Hastings, Nebraska, and is an adjunct professor at the University of Nebraska Medical Center in Omaha.

"I believe they have tried to please both parties, and they have been too nice," he said. "My personal opinion is that I would go for high-penetrance genes in clinically suspicious settings. I would ignore that disclaimer note and say, 'I'm going to do this 17-gene panel.' "

Going one step further, he suggested the creation of commercially available gene panels based on the NCCN recommendations for these 17 genes.

"There are a wide variety of panels available with different genes on different panels. There is a lack of consensus among experts regarding which genes should be tested in different clinical scenarios. If possible, it would be helpful to create commercially available gene panels based on the updated NCCN recommendations," he said.

In another major change, the guidelines now include pancreatic cancer for the first time. But in contrast to breast and ovarian cancer, the NCCN recommends that all patients with newly diagnosed pancreatic cancer receive genetic testing.

"Approximately 1 in 20 patients with pancreatic cancer will have an inherited susceptibility gene. Most people with pancreatic cancer who carry these mutations do not have a family history of pancreatic cancer, so you can't rely on family history to guide you about who should get genetic testing," Michael Goggins, MD, MBBCH, who was also involved in updating the NCCN guidelines, told Medscape Medical News. Goggins is director of the Pancreatic Cancer Early Detection Laboratory at Johns Hopkins University School of Medicine, Baltimore, Maryland.

Advantages of genetic testing for pancreatic cancer include guidance regarding choice of chemotherapy and the possibility of cascade testing for prevention or earlier detection of pancreatic cancer in family members.

Other additions to the guidelines include new recommendations for genetic testing for individuals with Ashkenazi Jewish ancestry, as well as new or updated recommendations for Li-Fraumeni syndrome and Cowden/PTEN hamartoma tumor syndrome.

The guidelines also offer an expanded section on genetics risk assessment and genetic counseling. Genetic testing has become increasingly complex, and the NCCN emphasizes the importance of genetic counseling throughout the testing process.

It has been 10 years since Anne Weber was diagnosed with ovarian cancer. Because she was diagnosed at a young age (28 years) and her other ovary was unaffected, she opted for surgery to remove only the ovary with the tumor.

After her own Internet research and at her own request, Weber underwent genetic testing. She found out that she is a carrier of the BRCA2 mutation, which carries high risk for breast, ovarian, and pancreatic cancer.

Current recommendations are that people with BRCA2 mutations start breast cancer screening at age 25, so Weber was screened immediately.

Her first breast MRI revealed a mass that was found to be stage I breast cancer. At that point, she chose to have her other ovary removed, as well as both fallopian tubes and both breasts, which significantly reduces her risk for recurrence.

"I'm so incredibly grateful that I found the information. All the guidelines say that I shouldn't even have had my first mammogram at my current age of 39. So there is low likelihood that I would have been diagnosed by now, and it certainly would not have been stage I," she said.

Since her diagnosis, she and her husband have adopted a child.

"Genetic testing isn't right for everyone. People aren't going to make the same decisions I did," she said. "The biggest thing is to understand that being positive doesn't mean that you're going to get cancer. It just allows you to have that circle of care to try to prevent cancer, or at least catch it earlier, when it's more treatable."

NCCN. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic Version 1.2020. Full text

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Heartbreaking News, Then Tumor Find Leads to Genetic Testing - Medscape

Genetic tests sold directly to consumers have been growing in popularity. And Im not just referring to the tests that show your ethnic ancestry, but also those that claim to identify genetic-based health risks. Experts warn that these tests should not be used to inform health decisions without further scrutiny, as the results of these tests can easily be misinterpreted or unreliable.

Business of Healthcare | December 27, 2019

Most genetic testing is done through healthcare providers such as physicians, nurse practitioners and genetic counselors. These providers determine which test is needed, order the test from a laboratory, collect and send the DNA sample, interpret the test results, and share the results with the patient.

Direct-to-consumer genetic testing is different. These tests can be bought online or in stores. Customers send the company a DNA sample and receive their results directly via a secure website or mailed report. Direct-to-consumer genetic testing provides access to genetic information without necessarily involving a healthcare provider.

Dozens of companies offer these tests for a variety of purposes. The most popular uncover genetic variations to make predictions about health, provide information about common traits, andyesoffer clues about a persons ancestry. While the number of companies providing direct-to-consumer genetic testing is growing, along with the range of health conditions and traits tested for, there is very little regulation of these services.

That means if you do use one of these tests to get genetic information about your health, dont make any decisions based on the results without talking to a medical professional.

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Business of Health Care: Direct-to-Consumer Genetic Testing - KWBU

As expected, the number of confirmed cases of hepatitis A in Yakima County continues to increase.

There have been 22 confirmed hepatitis A cases in the county as of Thursday, up from 18 on Dec. 3, according to the Yakima Health District, with the majority of the cases tied to people experiencing homelessness and those using illicit drugs.

One confirmed case has no identifiable risk factors, district spokesman Nathan Johnson said in an email Friday.

It is not uncommon to have an occasional hepatitis A case with no identifiable risk factors during an outbreak. However, we are recommending that everyone gets their hepatitis A vaccine if they have not gotten it yet, Johnson said.

The health district, in partnership with the Union Gospel Mission and Yakima Neighborhood Health Services, has been vaccinating people since the outbreak was reported in early November. Health officials also have been working closely with the Camp Hope homeless encampment and offering vaccines at clean needle exchanges.

The number of cases will likely continue to increase and cases will likely continue into spring, health district officials have said. The incubation period for hepatitis A is 15 to 50 days. Someone can be infected and not know they are spreading it, said Melissa Sixberry, director of disease control for the health district.

Hepatitis A is a liver disease usually transmitted when someone unknowingly ingests the virus from touching objects or consuming food contaminated with stool from someone who is infected. It also can be spread by close personal contact.

Symptoms include yellow skin or eyes, dark urine and/or pale stool, loss of appetite, fever, diarrhea, fatigue, vomiting and abdominal pain. Cases often result in overnight hospitalizations.

The best protection is the hepatitis A vaccine and frequent hand-washing, health officials say. Anyone can get the vaccine by contacting their doctor.

Genetic testing found the hepatitis A strain in Yakima County is related to a hepatitis outbreak in Spokane County. As of Dec. 17, the Spokane Regional Health District confirmed 70 cases of hepatitis A since April. Sixberry has said Spokane and King counties still have active outbreaks.

As of Dec. 19, there were 157 hepatitis A cases in Washington state, 82 hospitalizations and two deaths, according to the state Department of Health. The state first announced a multi-county outbreak on July 30. Other states also have reported outbreaks, primarily among persons experiencing homelessness and people who use illicit drugs.

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Hepatitis A cases at 22 in Yakima County and still rising - Yakima Herald-Republic