NHGRI logo

Principal Investigators

The Secondary Genomics Finding Service (SGFS) can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis. The SGFS is open to any Intramural Investigator and can analyze a maximum of 200 samples every 6 months per study or a one-time retrospective analysis of 300 samples.

 

Instructions

  1. Please review the resources and supplementary documents below. 
  2. Complete the application form and send via email to SGFS staff.
  3. SGFS staff are available if your IRB has questions. Contact Julie Sapp 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.

 

  • Instructions
    1. Please review the resources and supplementary documents below. 
    2. Complete the application form and send via email to SGFS staff.
    3. SGFS staff are available if your IRB has questions. Contact Julie Sapp 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 Findings
Background information on the rationale behind the development and implementation of the SGFS

NIH Intramural Policy for Secondary Findings from Next-Generation Sequencing Research

Darnell et al., 2016
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., 2017
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: March 12, 2020