Clinical OMICS

MAY-JUN 2019

Healthcare magazine for research scientists, labs, pathologists, hospitals, cancer centers, physicians and biopharma companies providing news articles, expert interviews and videos about molecular diagnostics in precision medicine

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8 Clinical OMICs May/June 2019 www.clinicalomics.com News I n early April, PerkinElmer and Helix announced the launch of a genetic screening test offering clinical-grade DNA sequencing targeting healthy consumers who want to take a more proactive role in their own health. The test, dubbed GenePrism: Action- able Insights and available via the Helix Marketplace, is a clinical-grade DNA test for healthy individuals that analyzes all 59 medically actionable genes identified by the American Col- lege of Medical Genetics and Genom- ics (ACMG)—commonly called the ACMG 59. While there are companies that will test patients for the ACMG 59 genes, the product offered by Helix and Perkin- Elmer is the first test of its kind offered to healthy individu- als via a consumer platform. According to Madhuri Hegde, Ph.D., vice president and chief scientific officer of PerkinElmer Genomics, the com- pany is uniquely suited to generating this kind of informa- tion based on its long track record of providing diagnostic services—including more than 70 years in the newborn screening field—as well as what she said is one of the largest and most diverse genomic databases in the world. "The U.S. population is no longer a homogenous popu- lation," Hegde said. "PerkinElmer has labs in India, China, Malaysia, and the U.S., which are all a part of the Perkin- Elmer global genomics laboratory network. The database (used for GenePrism) is driven by these different popula- tions, which makes it more powerful." The test is available now to Helix customers in its Mar- ketplace alongside other offerings that span a wide range of health, wellness, and entertainment products leveraging genomic data provided by Helix's proprietary Exome+ test. For those who have already had the Exome+ test performed, GenePrism costs $259, and for those having their exome sequenced for the first time, the cost is $299. Helix's first product was launched with National Geo- graphic in late 2017. The Geno 2.0 test built upon more than a dozen years of testing by National Geographic's Geno- graphic Project. The product provided not only ancestry information, but also ancient migration patterns of ances- tors and even information about what percentage of a per- son's genes are similar to Neanderthals. In mid 2018, Helix launched its marketplace, which contained a number of different applications including those providing diet, sleep, and exercise advice. Since the marketplace debut, there have been a number of applications launched that are more clini- cally focused such as products that test for the ApoE gene for Alzheimer 's disease, inherited diabetes testing, polygenic risk scoring for prostate cancer risk, and now GenePrism. According to Elissa Levin, senior director of clinical affairs and policy at Helix, while the company's marketplace first featured applications that were more entertainment focused or "fun"—such as Vinome, which provides wine recommen- dations for people based on their genetic makeup—the com- pany's roadmap has always been to market products that also focus directly on patient health and provide clinically relevant information. "The whole Helix premise is to enable this and make it seamless as possible," Levin said. "We have the underlying clinical-grade data from Exome+ and it is up to our partners to decide what they think is important that they want to get out there that is clinically responsible." Patient Investment: PerkinElmer, Helix Partner to Launch ACMG 59 Genetic Screening Test By Chris Anderson onceawitkin / iStock / Getty Images

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