Medical Devices

Public Workshop - Use of Databases for Establishing the Clinical Relevance of Human Genetic Variants, November 13, 2015

The Food and Drug Administration (FDA) is announcing a public workshop entitled: “Use of Databases for Establishing the Clinical Relevance of Human Genetic Variants”. The purpose of this workshop was to obtain feedback on ways in which FDA can use curated databases containing information about human genetic variation as sources of valid clinical evidence for the Agency’s oversight of the next-generation sequencing (NGS)-based in vitro diagnostic tests (IVDs). Comments and suggestions generated through this workshop will guide the development of best practices and/or regulatory standards for reliance on external curated databases.

Date, Time and Location

This meeting was held November 13, 2015, beginning at 8:30 am – 5:00 pm at the following location:

FDA White Oak Campus
10903 New Hampshire Avenue
Bldg. 31, Room 1503 (the Great Room)
Silver Spring, MD, 20993

Webcast Archive



7:30–8:30 AMSecurity screening and registration
8:30–8:45 AMWelcome and Introduction
Robert Califf, MD, Deputy Commissioner for Medical Products and Tobacco, FDA
Jeff Shuren, MD, JD, Director, Center for Devices and Radiological Health, FDA
8:45–9:15 AMMeeting goals and background: Database standards/best practices for genetic databases, Adam Berger, FDA
9:15–10:45 AMPanel 1: Assessment of Database Quality
Moderator: Katherine Donigan, FDA
Jeff Allen (Friends of Cancer Research)
William Biggs (Human Longevity Inc)
Melissa Landrum (ClinVar/NIH)
Saiju Pyarajan (Veterans Association)
Sophia Yohe (CAP/University of Minnesota)
11:00–12:30 PMPanel 2: Curation of Databases: Clinical Interpretation of Genetic Test Results
Moderator: Eunice Lee, FDA
Michelle Carrillo (PharmGKB/CPIC/Stanford)
Shashi Kulkarni (ClinGen/Washington University)
Donna Maglott (Human Variome Project/NIH)
Erin Ramos (ClinGen/NIH)
Karen Raraigh (CFTR2)
Sarah South (23andMe)
12:30–1:30 PMLunch break
1:30–3:00 PMPanel 3: Communicating Clinical Interpretations of Genetic Variants
Moderator: David Litwack, FDA
Ingrid Anderson (My Cancer Genome/Vanderbilt)
Emily Edelman (Jackson Labs)
Rachel Erlich (Foundation Medicine)
Joy Haidle (National Society of Genetic Counselors)
Heidi Rehm (ClinGen/Partners)
Sherri Bale (ACMG/GeneDx)
3:15–4:15 PMOpen Public Comment
4:15–4:30 PMSummary and Wrap Up–Elizabeth Mansfield, FDA

Contact Us

For questions regarding workshop content please contact:

David Litwack, Office of In Vitro Diagnostics and Radiological Health, Center for Devices and Radiological Health, Food and Drug Administration, 10903 New Hampshire Avenue, WO 66, Silver Spring, MD 20993, Tel. 301-796-6697, email:

Page Last Updated: 12/23/2015
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