1. Joint work with many colleagues at FDA precision.fda.gov | precisionFDA@fda.hhs.gov | @precisionFDA Taha A. Kass-Hout, MD, MS FDA Chief Health Informatics Officer Director, FDA’s Office of Health Informatics David Litwack, PhD Policy Advisor FDA’s Center for Devices and Radiological Health Elaine R. Johanson Deputy, FDA Chief Health Informatics Officer Deputy Director, FDA’s Office of Health Informatics

3. Genetic test (upstream) Clinician orders test/services for patient, collects sample Sample preparation and sequencing Core processing (Mapping, Variation Calling) Special processing (Annotation, Filtering, Interpretation) + (downstream) Clinician discusses outcome with patient NGS-based Genetic Test (end-to-end product)

4. Initial Focus Genotype Location 9: C → G mutation... File with variants (VCF) " You are at risk for X outcome. " Report Predicted Outcome Analytical BenchmarkClinical Benchmark

5. Initial Focus – Analytic Benchmarking Assess reproducibility of a test Assess accuracy using reference samples Assess agreement with other methods Assess test performance on synthetic data

6. Features Private or community areas Data Apps Comparisons Notes

22. https://github.com/FDA

24. >930 members from >450 organizations

25. precision.fda.gov

26. Thank You! precision.fda.gov | precisionFDA@fda.hhs.gov | @precisionFDA

27. Backup Slides precision.fda.gov | precisionFDA@fda.hhs.gov | @precisionFDA

28. … AGCATCGATGCAGAAGATTACAAGACGATCCGCTC … DNA Gene

29. We are all unique … AGCATCGATGCAGAAGATTACAACATAAAAAGATTACACGCGATCCGCTC … … AGCATCGATGCATAAGATTACAAGATAAAAAGATTACACGCGATCCGCTC … … AGCATCGATGCATAAGATTACAACATAAAAAGATTACATGCGATCCGCTC … … AGCATCGCTGCAGAAGATTACAACATAAAAAGATTACATGCGATCCGCTC … reference David Taha Elaine

31. The Internet Cloud

32. Community Assurance

33. Add new Feature (Discussion) New Feature