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Information for Principal Investigators

The SGFS can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis with a limit of 250 per year for any one study.  The SGFS is open to any Intramural Investigator. 

Please review the following documents prior to applying to the SGFS.

SGFS Documents and Guidance

SGFS Guidance MemoPDF file

  • Start here, describes SGFS processes in detail

SGFS ApplicationMicrosoft Word file

  • Complete the attached application, print and send via email to SGFS staff

Suggested language for protocols and consentPDF file

  • Suggested language to incorporate into your protocol and/or consent form describing the process of annotation and return of secondary findings through the SGFS service.  SGFS staff are available if your IRB has questions. Contact Julie Sapp at sappj@mail.nih.gov for more information.

Please Note: An IRB-approved protocol and/or consent is not required to submit an application to utilize the SGFS. We understand that Investigators may need to amend existing protocols (or incorporate this procedure into planned protocols) to allow for the return of secondary findings to participants. Investigators are encouraged to apply to utilize the SGFS while their protocols are in development or under amendment. Sequence data will not be annotated until the SGFS has been able to review the IRB-approved protocol and consent that applies to your participant population. 

Supplementary Documents

NIH Intramural Working Group on Secondary FindingsPDF file

  • Background information on the rationale behind the development and implementation of the SGFS

Darnell et al., 2016PDF file

  • Publication outlining a proposal for a centralized service to facilitate annotation and return of secondary genomic findings as part of the research enterprise

Kalia et al., 2017PDF file

  • Recommendations from the American College of Medical Genetics for the annotation and return of actionable secondary findings in clinical sequencing. Contains the most recent list of genes annotated for secondary findings by the SGFS. 

 

Last Updated: December 4, 2017