Genetic and Genomic Research

Tool for Addressing Genetic and Genomic Research in Protocols and Consent Forms

Genomic Data Sharing Policy

• NIH Genomic Data Sharing Policy (1/25/2015)
• The NIH Genomic Data Sharing Policy: Applicability to the Intramural Research Program (12/01/2021) Slides and Videocast

Returning Secondary Genomic Findings to Research Participants

Beginning October 1, 2022, the NIH IRB expects new protocols involving human genomic sequencing, and existing protocols being modified to add genomic sequencing, to include 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 are: 1) the absence of a clinical relationship with participants or 2) the data being generated by the study are insufficient for conducting secondary analyses. 

Protocols and consent forms should describe the plan for the return of secondary genomic results when the study involves genomic sequencing.  Investigators may utilize one of the resources available at the NIH for the analysis and return of secondary genomic research results if the study team does not have the resources and/or expertise.

IRB Guidance for Return of Secondary Genomic Results in the NIH Intramural Program:

Please also refer to the content in the NIH IRBO Research Protocol Templates ("RETURN OF SECONDARY GENOMIC RESULTS") and the Consent Library (“SECONDARY GENETIC FINDINGS – RETURN OF RESULTS”) for additional requirements and template language.

Resources

Available for Returning Genomic Secondary Findings

The IRB believes that returning clinically actionable genomic research results is an ethically required when protocols build substantial clinical relationships with participants.  The obligation, however, should be primarily borne by the NIH IRP rather than individual investigators.  As such, there are a number of available resources to assist in the process of searching for and returning secondary genomic findings.  Please check with these resources before including them in your protocol.

Please review the following article which supports the idea of the a Secondary Genomic Findings Service: A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research

• Secondary Genomics Findings Service (https://www.genome.gov/Clinical-Research/Secondary-Genomics-Findings-Service)

The SGFS will interrogate existing genomic data for a predefined list of clinically actionable secondary findings.  The service will also coordinate the confirmation of any results and has genetic counselors available to return results to participants. 

• NIAID Centralized Sequencing Program (https://www.niaid.nih.gov/research/centralized-sequencing-program)

This program is available for investigators who would benefit from a broad package of genomic research services, beyond just secondary results analysis and return.  This NIAID group collaborates with investigators to co-enroll participants on a centralized protocol and then provide sample handling; genome sequencing; bioinformatic processing; clinical review for primary, secondary, and research candidate; CLIA orthogonal confirmation; generating a written report for CRIS; genetic counseling; access to all raw files; access to genomic data portal and all data for others on the centralized protocol; data storage; dbGAP submission).  The cost is approximately $2300/pt and special projects are pursued collaboratively. For more information, contact Morgan Similuk <morgan.similuk@nih.gov>.

• NIH Intramural Sequencing Center (NISC)

If NISC is being used to sequence samples using their CLIA pipeline, secondary variants will be reviewed by a clinical molecular geneticist to determine which variants should be returned to the patient. 

• Commercial Services

A number of commercial services are available to analyze genomic sequence data for secondary findings in a CLIA environment.  While the NIH cannot endorse any specific companies, some examples include GeneDx, Invitae, PerkinElmer Genomics, and Prevention Genetics.

Questions?  IRB@od.nih.gov