Becker's Hospital Review

72 CIO / HEALTH IT Up to 40% of positive results in direct-to- consumer genetic tests are wrong, study suggests By Jessica Kim Cohen D irect-to-consumer genetic tests may have a tendency to provide patients with false-positive re- sults, according to a study published in the journal Genetics in Medicine March 22. For the study, the researchers reviewed 49 patient requests for clinical confirma- tion of direct-to-consumer genetic test results, all of which had been flagged with genetic variants associated with a risk of disease. The 49 requests were submitted to Ambry Genetics, an Aliso Viejo, Calif.-based genetic sequencing company that processes DNA for medi- cal and research institutions. The eight study authors, all of whom are full-time employees of Ambry Genetics, determined 40 percent of variants re- ported in the DTC raw data were "false positives," suggesting the variant iden- tified in the patient's initial test was not present. The researchers also found clinical lab- oratories — including Ambry Genetics — classified some variants, which had been flagged with an "increased risk" classifi- cation in the DTC raw data, as "benign." The researchers determined these vari- ants were benign based on analyses of publicly-available population frequency databases, which showed the variants tended to be common among patients. The study authors noted these findings were based on raw genotyping data, rather than the refined data interpre- tations DTC companies present their customers. However, some companies provide customers their raw data, if re- quested. "Our results demonstrate the impor- tance of confirming DTC raw data vari- ants in a clinical laboratory that is well versed in both complex variant detec- tion and classification," the study au- thors concluded. n Intermountain Healthcare launches long-term Precise study to collect genomic data By Jessica Kim Cohen R esearchers at Salt Lake City-based Intermountain Healthcare will col- lect fresh-tissue and blood samples from across the health system un- der a new long-term prospective study dubbed "Precise." The researchers will recruit and enroll Intermountain Healthcare patients into the study to create a biobank. The biobank — which will include genomic data from Precise and clinical outcomes data — will serve as a research re- source for future precision medicine projects. Researchers will complete tissue analyses at Intermountain Healthcare's high-throughput sequencing facility in St. George, Utah. "The multi-disciplinary nature and prospective design of Precise will be a challenge and require a tremendous amount of teamwork, but in the end, the pragmatic results will advance our knowledge regarding precision health and medicine initiatives," said Tyler Barker, PhD, senior research sci- entist at Intermountain Healthcare and principle Investigator for the Precise study. n Chan Zuckerberg Initiative awards genomics grant to Mount Sinai, UC Berkeley researchers By Jessica Kim Cohen T he Chan Zuckerberg Initiative awarded a grant to develop genomic analysis tools to a team of researchers from New York City-based Icahn School of Medicine at Mount Sinai and UC Berkeley, Mount Sinai announced April 19. Facebook Founder and CEO Mark Zuckerberg and his wife Priscilla Chan, MD, a pe- diatrician, launched the Chan Zuckerberg Initiative in 2015 with the mission to cure, prevent or manage all diseases by the end of the century. e company recently rolled out 85 grants totaling $15 million in funding to build tools for the Human Cell Atlas, a global effort to map each cell in the human body as a research resource. Under the Chan Zuckerberg Initiative's grant, a research team led by Uri Laserson, PhD, assistant professor in the Icahn School of Medicine's genetics and genomics sciences de- partment, will develop cloud-based soware to analyze massive amounts of molecular and imaging data generated by the Human Cell Atlas. e proposal is based on principles of distributed computing, in which large-scale datasets are loaded onto internal memory boards across a cluster of computers. e Chan Zuckerberg Initiative emphasized soware created under the 85 grants will be licensed with an open-source license. "Working together and with our team of scientists and engineers, these partners will cre- ate new ways for scientists to use information about healthy and diseased cells," Dr. Chan said in an April 19 statement. "eir efforts will help to accelerate progress toward our goal of curing, preventing or managing all diseases by the end of the century." n

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