Joint work with many colleagues at FDA

precision.fda.gov | precisionFDA@fda.hhs.gov | @precisionFDA

Taha A. Kass-Hout, MD, MSFDA Chief Health Informatics OfficerDirector, FDA’s Office of Health Informatics

David Litwack, PhDPolicy AdvisorFDA’s Center for Devices and Radiological Health

Elaine R. JohansonDeputy, FDA Chief Health Informatics OfficerDeputy 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 outcomewith 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 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 | precisionFDA@fda.hhs.gov | @precisionFDA

Backup Slides

precision.fda.gov | precisionFDA@fda.hhs.gov | @precisionFDA

… AGCATCGATGCAGAAGATTACAAGACGATCCGCTC …

DNA

Gene

We are all unique

… AGCATCGATGCAGAAGATTACAACATAAAAAGATTACACGCGATCCGCTC …

… AGCATCGATGCATAAGATTACAAGATAAAAAGATTACACGCGATCCGCTC …

… AGCATCGATGCATAAGATTACAACATAAAAAGATTACATGCGATCCGCTC …

… AGCATCGCTGCAGAAGATTACAACATAAAAAGATTACATGCGATCCGCTC …

reference

David

Taha

Elaine

The Internet Cloud

Community Assurance

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