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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Page 26 of 51 March/April 2019 Clinical OMICs 25 What are the most significant advances in preci- sion medicine over the past five years? Worthey: Over the last five years we have begun to shift towards acceptance that the sequencing of an entire genome (WGS) provides a significant boon both in terms of research and clinical outcomes as compared to an exome sequence. The majority of the translational research programs into diseases believed to have large genetic components has shifted to WGS. This shift has perhaps most importantly supported an increased rate of molecular diagnoses for patients with rare genetic disorders and has increased our understanding of the genetic basis of diseases; both rare and common. The availability of these broad and rich datasets will continue to support advances in our understanding of human disease. For example, over the last 18 months we are seeing increased application of polygenic risk score (PRS) analysis making use of large GWAS and WGS data. PRS seeks to estimate an individual's pro- pensity towards a particular phenotype across large and small effect variation. These methods have a vari- ety of uses including human disease risk assessment in research settings and there is increased focus on their application within healthcare settings. How has your work supported these advances? Worthey: I have been an educated proponent for the last eight years in moving straight to a WGS in cases where a rare disease patient is undiagnosed or misdiagnosed and suspected to have a disease with genetic under- pinnings. My lab has undertaken a variety of work to develop tools and methods that can be used to show that providing a diagnosis from WGS is no harder or slower than providing one from an exome sequence; this was previously commonly used as an argument against clin- ical WGS. The lab has also developed a variety of tools and methods that can be used to identify many different types of variants and to assist in the understanding of genotype–phenotype associations. Perhaps most impor- tantly we have strived to openly discuss and educate on genomics and its relevance to precision medicine What are the biggest challenges and/or opportunities that lie ahead? Worthey: Now that the sequencing technology has advanced to the point where delivering high quality, cheap, and rapid genomes is a commodity—and where robust, reproducible, and accessible methods exist for analysis and interpretation of these datasets—it is clear that the largest hurdle relates to the integration of these types of methods into clinical practice. Tools, methods, and processes need to be developed in order to deliver this information in ways that care providers can digest it and use it for the treatment of their patients. Some of the necessary steps are technical in nature. For example, the integration of these data into electronic health records. Solutions need to take in to account not only the volume of data, but also the velocity at which it changes—particularly in terms of how those changes alter therapeutic strategies and potential outcomes for patients. Extracting the latter information requires inte- gration of this data with a large variety of other clinical and phenotype data, which adds additional challenges. Much of the work, however, is on the clinical implemen- tation side. Integration of these datasets and methodol- ogies has great potential, but this will only be realized if they are integrated in to the healthcare system. What is your vision for the future of precision medicine/genomics? Worthey: I believe that precision medicine defined as LIZ Worthey, Ph.D. HudsonAlpha Institute for Biotechnology (continued on next page) ANNIVERSARY ISSUE

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