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NIH

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

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,

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

Leslie Biesecker, who heads the SCFS.

 

Last Updated: December 4, 2017