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Should I consider the SGFS?

Please answer questions 1 through 5 to find out if you should consider applying to the SGFS.

1: Are you an NIH intramural researcher?
 

Thank you for your interest in the SGFS but the SGFS is only open to NIH intramural investigators performing human germline genomic sequencing under an NIH IRB reviewed and approved protocol. The SGFS solely functions to assist these intramural researchers in annotating and returning secondary genomic findings to their participants.

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2: Are you writing a protocol, or do you have an active protocol that performs/performed human germline genome or exome sequencing on your participants?
 

Thank you for your interest in the SGFS but the SGFS is only open to NIH intramural investigators performing human germline genomic sequencing under an NIH IRB reviewed and approved protocol. The SGFS solely functions to assist these intramural researchers in annotating and returning secondary genomic findings to their participants.

Answer again
 
3: Will your participants be NIH clinical center patients, or can you register them as external-location patients?
 

Thank you for your interest in the SGFS but the SGFS is only open to NIH intramural investigators performing human germline genomic sequencing under an NIH IRB reviewed and approved protocol. The SGFS solely functions to assist these intramural researchers in annotating and returning secondary genomic findings to their participants.

Answer again
 
4: Are your participants re-contactable?
 

Thank you for your interest in the SGFS but the SGFS is only open to NIH intramural investigators performing human germline genomic sequencing under an NIH IRB reviewed and approved protocol. The SGFS solely functions to assist these intramural researchers in annotating and returning secondary genomic findings to their participants.

Answer again
 
5: Do you already have a pipeline to annotate and return secondary genomic findings (i.e. the ACMG 59 gene list)?
 

Great! Finished! Thank you for your interest in the SGFS. It looks like you may be a good candidate to collaborate with us. Please continue reading this page and follow the steps.

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Not Eligible! Thank you for your interest in the SGFS but it sounds like you already have the activities the SGFS could assist with covered in your protocol.

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 59 genes outlined in Kalia et al., 2017.

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What protocols should return secondary findings?

All NIH intramural protocols that include human genomic DNA sequencing should specify whether or not, and if so how, they will evaluate and return secondary findings. 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 59 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: June 11, 2020