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Secondary Genomics Findings Service

The Secondary Genomics Finding Service (SGFS) is a team-based clinical service provided by NHGRI to Intramural Investigators employing exome/genome sequencing to accomplish their research goals. The SGFS will annotate de-identified research exome/genome data for the presence of possible actionable secondary variants. Any secondary variants found in the research data will be clinically confirmed. The SGFS will coordinate confirmatory samples and provide genetic counseling and results disclosure to participants with secondary findings.

How does it work?

Clinical Research Staff & Protocol Coordinators
Right arrowEnsure your participants consent to receive secondary findings.
Laboratory and Bioinformatics Staff
Right arrowSend the SGFS your exome or genome data for annotation


Still have questions after reviewing the links above?

SGFS staff hold monthly office hours to answer questions and offer guidance. See schedule below for upcoming days, times and locations.

Date Time  Location
November 19, 2018

1:00 P.M.

FAES Room 7 (10/B1C206)

December 12, 2018 11:00 A.M.

FAES Room 3 (10/B1C207)

January 8, 2019 11:00 A.M.

FAES Room 7 (10/B1C206)

Additional dates/times will be added quarterly.

The SGFS is:

Kate Driscoll and Jennifer Johnston, who will annotate your sequence files

Julie Sapp, the genetic counselor who will work with you and return results to your participants,

Anna Buser, a research assistant who will work with your team and your participants to get confirmation samples, and

Leslie Biesecker, who heads the SGFS.


Last Updated: November 9, 2018