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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www.clinicalomics.com March/April 2019 Clinical OMICs 21 What are the most significant advances in precision medicine over the past five years? Relling: Whole-exome sequencing has improved dras- tically and become increasingly cost-effective. This improvement has enabled more accurate diagnosis of genetic diseases, especially helpful for pediatric patients. The market for consumer-driven, genome-wide genetic testing has become more common and aids our under- standing of diseases. Also, there are a number of users converging on key peer-reviewed, non-profit curated genomic medicine resources to guide clinical actions, such as ClinVar, ClinGen, the Clinical Pharmacogenetics Implementation Consortium (CPIC), and PharmGKB. How has your work supported these advances? Relling: Our group at St. Jude Children's Research Hos- pital co-established CPIC in 2009, along with investiga- tors from Stanford and PharmGKB. Today, we continue to work to create, curate, update, and disseminate freely available peer-reviewed guidelines and related resources by those implementing pharmacogenetics in the clinic. This work clarifies the importantance of maintaining genomic medicine resources by the non-profit sector. We collaborate with ClinVar, ClinGen and PharmGKB to make pharmacogenomic resources available. At St. Jude, we established a clinical protocol, PG4KDS, and have enrolled nearly 5000 patients, with a goal of preemptively implementing all gene/drug pairs that are subjects of CPIC guidelines, with appropriate clinical decision sup- port. We have a residency training program to educate clinicians on clinical pharmacogenomic implementation. What are the biggest challenges and/or opportunities that lie ahead? Relling: One of the biggest challenges is most healthcare systems are not built to prevent adverse events, but mostly to treat adverse events. Another is the lack of a central- ized, organized healthcare system designed to support life-long results such as genomic testing. For example, we can conduct a preemptive screen for pharmacogenetic tests in a single test, and these results are more likely to be applicable as the patient grows older and is exposed to more high-risk drugs. But we don't have a good system for making these results available when needed. There is no uniform electronic health record. At any one time, patients may have multiple prescribers and pharmacies with little to no coordination, much less with common access to genetic test results that can inform prescribing and capitalize on the availability of clinical decision sup- port. The lack of logical prescribing based on laboratory tests is just one small example of the disconnectedness and lack of computationally informed medicine that impacts all levels of our healthcare. What is your vision for the future of precision medicine/genomics? Relling: Perhaps the most realistic idea is to start with a tight focus, like pharmacogenomics. Individuals could have their pharmacogenetic testing done as part of a panel with their first prescribed medications, and these results can essentially last a lifetime. A common pre- scribing and dispensing system would need to permeate all clinics, hospitals, and pharmacies, with the patient at the center. Lifelong alerts, such as allergies, prior his- tory of adverse drug reactions, and genomic test results would be built into the system. Although available to all users, the pharmacy or point of dispensing would serve as a common, last resort safety net to provide decisions support for prescribers and dispensers; even establish- ing this common point would require unprecedented centralization and free communication among laborato- ries and pharmacies that does not currently exist. MARY Relling, PharmD St. Jude Children's Hospital ANNIVERSARY ISSUE

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