Taha A KassHout MD MS FDA Chief Health

Taha A. Kass-Hout, MD, MS FDA Chief Health Informatics Officer Director, FDA’s Office of Health Informatics David Litwack, Ph. D 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 Joint work with many colleagues at FDA precision. fda. gov | precision. FDA@fda. hhs. gov | @precision. FDA

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

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

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

Features Private or community areas Data Apps Comparisons Notes

https: //github. com/FDA

>930 members from >450 organizations

precision. fda. gov

Thank You! precision. fda. gov | precision. FDA@fda. hhs. gov | @precision. FDA

Backup Slides precision. fda. gov | precision. FDA@fda. hhs. gov | @precision. FDA

DNA Gene … AGCATCGATGCAGAAGATTACAAGACGATCCGCTC …

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

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