How the NIH Genetic Testing Registry and Medical Genetics Summaries can help oncologists adopt pharmacogenetics guidelines.

e14141 Background: Oncology is one of the few medical specialties where pharmacogenetic dosing is becoming a routine part of patient management. In the US, oncology drugs account for one-third of all drugs with pharmacogenetic data in their labeling. The NIH Genetic Testing Registry (GTR, www.ncbi.nlm.nih.gov/gtr ) is a freely available database of orderable genetic tests voluntarily provided by laboratories, and supports easy identification of both diagnostic and therapy-based tests. Medical Genetics Summaries (MGS, www.ncbi.nlm.nih.gov/books/NBK61999 ) presents actionable pharmacogenetic information by collating guidelines from authoritative professional (e.g. FDA, CPIC) and medical (e.g. ASCO) societies. MGS is regularly updated and can be found by searching PubMed. To increase oncologist adoption of pharmacogenetic recommendations, we analyzed the relationship between genetic tests in GTR and practice guidelines in MGS. Methods: The GTR database was queried to extract content, and we consulted the FDA Table of Pharmacogenomic Biomarkers in Drug Labeling. Results: Of the 90 oncology drugs that have pharmacogenetic information in their labeling, 29 drugs have at least one test for drug response in GTR. The oncology drugs most tested are mercaptopurine and irinotecan with 13 tests each, followed by thioguanine (12) and tamoxifen (9). For the remaining 61 drugs, only one drug (Pertuzumab) has a guideline, which is summarized in MGS. In total, MGS offers 10 summaries focused on oncology drugs. The 90 drug labels mention 49 distinct biomarkers (e.g. genes and variants). All 49 biomarkers can be interrogated using tests via the GTR. In total, GTR has approximately 3,500 tests for cancer diagnostics, 500 tests for cancer management, and 37 pharmacogenetic tests for cancer drugs. Conclusions: Searching for a genetic test in GTR by biomarker (100% coverage) is more efficient than by drug name (32% coverage) because of how laboratories describe their tests. Clinicians need to quickly find the best pharmacogenetic test and how tests are represented in the community affect the ability to search and find them. This presentation will show busy clinicians how to optimally use GTR and MGS. This work was supported by the Intramural Research Program of the National Library of Medicine, National Institutes of Health.