Clinical OMICS

NOV-DEC 2018

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 42 of 51 November/December 2018 Clinical OMICs 41 Medical Discovery and Provision of Health Data Becomes People-Driven I believe the future of medical discovery is people-driven and there are two forces at play that drive this prediction. First, in our increasingly connected and dig- ital world, people have health data files at their fingertips—from personal DNA tests, to Fitbits and other wearables, to electronic health records. Today, that data, despite being incomplete snap- shots of life, is often bought and sold regularly without the per- son's knowledge or consent. The second force is that in order to conduct transformational research, we need more diverse and continuous real-world datasets. The conver- gence of these two forces will bring forth the opportunity to reimagine research and engage people's responsibility to share their health data on their terms for the greater good of science. People (both patients and healthy people) have access and the legal right to their health data. Their data is invalu- able for research if aggregated and organized centrally at scale. People's need for transparency, control and privacy must be honored and people should take part in the value created from their data. The future is about giving people a stake—literally—in the future of medicine and engaging them as true partners in discovery. I believe 2019 will bring new models that challenge silos and un-permissioned data selling, putting people truly in control of their data and helping them get in the fight against disease/transform the future of medical research." DAWN BERRY Co-Founder and President, LunaDNA T here are several factors that I believe will lead to wide- spread genomic testing of apparently healthy individu- als in 2019. These include (1) further reductions in the cost of sequencing, (2) steady increase in the sophistication of variant classification, (3) substantial evidence suggesting that downstream harms and healthcare costs of such testing are modest, and (4) increasing evidence to support the clin- ical benefits of such testing. Our research has contributed to the evidence base through randomized clinical trials of sequencing healthy adults in the MedSeq Project and healthy newborn infants in the BabySeq Project. Both of these studies suggest that monogenic disease risks (MDR) are far more common in healthy individuals than previously suspected, and that "deep phenotyping" of such individuals after MDR iden- tification discovers symptoms and signs of the underlying disease that were previously missed. Econogenomics analy- ses have also suggested that downstream medical workups are appropriate and downstream medical costs are modest. Based upon this, we have launched a Preventive Genomics Clinic at Brigham and Women's Hospital where apparently healthy individuals can get advanced genomic testing, far beyond anything currently available direct-to-consumer or through most medical providers. An important contributor to widespread genomic testing in the coming year is that several prominent healthcare systems such as Geisinger, Northshore and Sanford in the U.S., and the National Health Service in the U.K., have recently decided to incorporate aspects of genomic screening into the everyday practice of medicine. The bold experiments will rapidly generate data at scale that will help understand the costs and benefits of such implementation. A number of consumer-directed laboratories and telegenet- ics medical practices, such as Genome Medical, are offering preventive genomics testing to consumers who request it, while providing high quality medical counseling and consul- tation for those who receive positive or negative results. Finally, the All of Us Research Program, with its plans to recruit 1 million diverse Americans into a research biobank, will be launching a return of genomic results pilot that pro- vides some actionable genomic information back to any of its participants who elect to receive it. These multiple threads are creating tremendous acceptance for the notion of genetically testing healthy individuals, and for these reasons, I think 2019 will be the year that population testing with genomics dramatically increases. ROBERT GREEN, M.D. Professor & Director Genomes2People Research Program Preventive Genomic Testing of Apparently Healthy People Dramatically Increases

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