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Should I consider the SGFS?

Please check back for a brief explainer video.

What are secondary findings?

Secondary findings are pathogenic or likely-pathogenic variants in medically actionable genes that are directly searched for in human genomic DNA but are unrelated to the primary indication for sequencing. In other words, secondary findings are genetic predispositions to treatable or preventable diseases that neither participants nor ordering clinicians may have previously been aware of. Following the American College of Medical Genetics guidance for clinical genomic testing, the SGFS currently annotates exome/genome sequencing data you send to us for the 81 genes outlined in Miller et al., 2023.

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What protocols should return secondary findings?

The NIH IRB specifies that "Beginning October 1, 2022, the NIH IRB expects new protocols to describe a plan for returning clinically actionable secondary genomic findings to research participants, unless there is a strong justification not to do so. The most commonly acceptable reasons for not returning results will be: 1) the absence of a clinical relationship with participants or 2) the data being generated by the study are insufficient for conducting secondary analyses." 

All NIH intramural protocols that include human genomic DNA sequencing should consult the above policy. For more information see https://irbo.nih.gov/confluence/pages/viewpage.action?pageId=174162149 (NIH access only). Although the final decision lies with the IRB, Darnell et al. propose the following guidance:

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Currently, the American College of Medical Genetics recommends that variants in 81 genes be returned to people undergoing clinical sequencing, but there is no general or universal obligation for researchers to actively search for secondary findings. However, there are context-dependent obligations that researchers incur in the process of performing different kinds of research. The greater the degree that the participant-researcher interaction resembles a clinical care relationship, the greater the obligation of the researcher to return secondary findings that are of high clinical utility.

Returning secondary findings has the potential to improve health outcomes for your participants and their families. Moreover, multiple studies performed in diverse settings demonstrate that research participants, when asked, say that they would like to receive this kind of information.

What services does SGFS offer?

  1. Annotate your de-identified exome or genome sequencing data for the presence of actionable secondary findings
  2. Coordinate obtaining a second sample from your participants with a preliminary finding
  3. CLIA validate these preliminary findings
  4. Disclose and provide genetic counseling to your participants with confirmed secondary findings.

The SGFS can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis. For each intramural protocol, the SGFS can annotate a maximum of 200 samples every 6 months or a one-time retrospective analysis of 300 samples. The SGFS is free of charge for accepted applications within these guidelines.

Last updated: September 20, 2024