Joint work with many colleagues at FDA precision.fda.gov | 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

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)

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

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

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Backup Slides precision.fda.gov |

… AGCATCGATGCAGAAGATTACAAGACGATCCGCTC … DNA Gene

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

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