Clinical OMICS

MAR-APR 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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24 Clinical OMICs March/April 2019 What are the most significant advances in preci- sion medicine/genomics over the past five years? Willard: How one views opportunities and advances in precision medicine and precision health is like the parable of blind men and the elephant—it all depends on which part of the elephant one is touching! To some, it will be somatic mutations and cancer thera- peutics; to others "the right pill for the right patient". Most progress in clinical implementation has been with Mendelian disorders, with broad ongoing research efforts to explore how whole-exome and/or genome data will inform risk of more complex conditions. How has your work supported these advances? Willard: Geisinger has launched a number of preci- sion health programs, including MyCode Commu- nity Health Initiative over a decade ago. Over 250,000 participants have consented to participate in this research—a collaboration with Regeneron's genet- ics research center—and we have sequenced whole exomes in more than 100,000 of these research sam- ples, with reporting of clinically confirmed and med- ically actionable variants to about 2% of participants. Motivated by our experiences with MyCode, we launched a clinical whole-exome population screening program in mid-2018 as part of routine clinical care in a variety of Geisinger clinics, developing an end-to- end implementation platform—from patient engage- ment and consenting, to whole exome sequencing in a certified clinical laboratory, to physician education, to genetic counseling at scale, and to integration of clinical results into the electronic health record. Lastly, we launched Geisinger National Precision Health in the Washington, DC area at the end of 2017, that offers the Geisinger implementation pipeline to health systems and other institutions and companies around the country in order to advance their pro- grams and implement genomics into the practice of healthcare for millions of patients nationally. What are the biggest challenges and/or opportunities that lie ahead? Willard: The major challenge for integrating genomic sequencing data into precision health at scale remains the cost of whole-exome or whole-genome sequencing. This will remain an obstacle adoption, without signif- icant drops in costs of sequencing and/or coverage of the costs of population-based screening by payers. To do so will require significant efforts to develop the evidence base—now available for only a small num- ber of conditions—for conditions and genes across the genome. There are major short-term opportunities to develop the evidence base, to refine our understand- ing of penetrance and population incidence of various genetically determined conditions, and to incorporate information on variants across the genome, not just one at a time, but as part of polygenic scores that con- tribute to risk or resiliency. What is your vision for the future of precision medicine/genomics? Willard: Universal genomic sequencing will become a routine part of public health and medicine, to improve individual health and well-being, while optimizing the cost of healthcare over the lifespan. To do this, we strive to demonstrate the clinical util- ity and personal value of genomic information at the individual, family, and community level. Geisinger is an ideal "healthcare laboratory" for implementa- tion of genomic precision health, both at Geisinger and beyond. HUNTINGTON Willard, Ph.D. Geisinger Health System ANNIVERSARY ISSUE

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