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Secondary Genomics Findings Service (NIH Only)

Air date: Monday, November 19, 2018, 10:00:00 AM
Time displayed is Eastern Time, Washington DC Local
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Description: Protocol Navigation Training Program

Secondary genomics findings (formerly known as incidental findings) are variants in a set of 59 genes for which current evidence suggests the variant predicts a substantial risk of serious morbidity and/or mortality, and for which there is a plausible intervention that lowers that risk. It is now standard of care in clinical exome and genome testing to evaluate the 59 genes routinely and to return risk variants, if identified, unless a patient opts out. This approach to secondary genomics findings, which was designed for the clinical realm, is more complex when applied to the research realm. The NIH Intramural Research Program (IRP) recently implemented a policy stating that this issue must be considered in all protocols that perform exome and genome sequencing. NIH Institutional Review Boards (IRBs) have full authority to determine for each protocol whether such findings should be returned. If an IRB does recommend return of secondary genomics findings, it is the responsibility of the Principal Investigator (PI) and the Institute or Center Clinical Director to support this process. The National Human Genome Research Institute (NHGRI) has developed a program to support this process for investigators within the NIH IRP. This service has the necessary resources and expertise to analyze and interpret exome or genome data for secondary genomics findings for up to 2,000 samples per year. These analyses will identify if a secondary genomic finding is present, work with the PI and the research participant to obtain a confirmatory test, and provide research participants with confirmed results with appropriate genetic counseling.

In this presentation, Leslie G. Biesecker, M.D., NHGRI Senior Investigator and Chief of the NHGRI Medical Genomics and Metabolic Genetics Branch, will present an overview of the NHGRI Secondary Genomics Findings Service and describe how it can benefit IRP investigators.

At the end of this session, participants should: • Be able to distinguish between secondary genomics findings and primary or incidental genomics findings;

• Be able to apply the IRP secondary genomics findings return policy to one’s own genetic studies; and

• Be able to incorporate appropriate language into informed consent documents and protocols that will use the secondary genomics findings service.


NHGRI Secondary Genomics Findings Service: Office of Intramural Research (OIR) Sourcebook:

A list of recent seminars available on the Videocast archives web site is below: 19 September 2016: AAHRPP Re-Accreditation and New Updates to the NIH HRPP SOPs 24 October 2016: Reliance Agreements and NIH Human Research Protections Program Requirements for Collaborative Research 21 November 2016: The NIH Office of Research Support and Compliance (ORSC) – the First 100 Days 20 March 2017: Panel Discussion: Improving Support for Clinical Research at the NIH 24 April 2017: The NIH Office of Research Support and Compliance (ORSC) – an Update 15 May 2017: News from the OHSRP: Informed Consent and Requests for Determination 16 October 2017: Investigational Treatments and Emerging Medicines: A Regulatory Perspective 20 November 2017: An Update on IRB Reorganization: A Panel Discussion 18 December 2017: Technology Transfer Agreements for Sharing Human Materials and Data: Policies and Procedures 19 March 2018: Common Rule Issues with Tissues 16 April 2018: The NIH IRB Consolidation and iRIS Transition 21 May 2018: Contemporary Challenges in Informed Consent 17 September 2018: The NIH Office of Clinical Research 15 October 2018: Moving Toward the NIH IRB

Previous seminars are available for viewing through GenomeTV, NHGRI’s YouTube channel, on the Protocol Navigation Training Program Seminar Series Playlist:

NIH staff and contractors can subscribe to the NIH Protocol Navigation List-serv to receive informational emails about the Program and to connect with other community members interested in protocol navigation:
Author: Leslie G. Biesecker, M.D., Senior Investigator, NHGRI, NIH
Runtime: 1 hour