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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Page 10 of 50 May/June 2019 Clinical OMICs 9 As PerkinElmer looks to build its genomic testing busi- ness, making sure GenePrism was on solid clinical footing was of utmost importance. Hegde noted that the company could easily have launched a service that analyzed hun- dreds of genes that have shown some level of clinical rele- vance, but choose to first focus on the ACMG 59. "We made a conscious decision to go off the industry accepted guidelines that these are the most actionable genes," Hegde said. "Because when someone gets a positive result and this is given to the patient, their GP should be able to understand the results and they can point to medically actionable treat- ment guidelines." Another important aspect for PerkinElmer in choosing to be in the Helix Market- place was the company's partnership with Genome Medical. Self-described as a "a nationwide genetic medical practice" Genome Medi- cal is staffed by medical geneticists well-versed in helping patients navigate their journey after the discovery of genetic information that may affect their health, or the health of family members. Individuals who sign up for GenePrism need to receive physician authorization and are required to complete an online medical questionnaire, developed in collaboration with Genome Medical, before submitting a DNA sample. "If at any point during the questionnaire the family his- tory flags, it will flag to Genome Medical before your test is run," said Justin Leighton, director of genomics market- ing at PerkinElmer. "Lets say you had a mother with breast cancer at 35, they might be inclined to call you and say that (GenePrism) only screens for four or five genes and maybe you want to have a clinical assay that looks at the 30 most common genes associated with breast cancer. We want to do this in the most clinically responsible way." Once the information is provided to the individual, it is up to them to make the decision about whether to get further testing elsewhere, but the process is designed to let people buying GenePrism understand exactly what they are getting. Users of the test have their DNA sequenced by Helix and the results are interpreted by board-certified medical geneticists at PerkinElmer Genomics using ODIN (Ordered Data Interpretation Network), PerkinElmer 's proprietary high-throughput software platform. Return of results to patients is through a portal on the Helix website that pro- vides a concise breakdown of what the testing has found and educational resources that can help individuals bet- ter understand what their testing has revealed. If positive results are returned to the patient, the service provides free genetic counseling sessions from Genome Medical, to ensure customers understand their results fully and in the correct context. As Levin sees it, products like GenePrism help further the Helix model that allows for people to "sequence once and query again and again." "People come at this from all angles. There are some that just want the actionable health information to tell them what they don't know in order to be as proactive as possi- ble," Levin said. "There are other people who don't want to get anywhere near that. They just want to find out some fun traits, some things about ancestry, and they dip their toe in the water. "This model basically opens it up to the creativity of the marketplace to create these products. The fact you can get, in essence, on-demand data is just a total game changer." Elissa Levin, senior director of clinical affairs and policy, Helix People wanting to purchase the GenePrism service must first provide a saliva sample to Helix for their Exome+ testing.

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