Background: Clinical genome and exome sequencing (CGES) is primarily used to address specific clinical concerns by detecting risk of future disease, clarifying diagnosis, or directing treatment. Additionally, CGES makes possible the disclosure of autosomal recessive and X-linked carrier results as additional secondary findings, and research about the impact of carrier results disclosure in this context is needed. Methods: Representatives from 11 projects in the clinical sequencing exploratory research (CSER) consortium collected data from their projects using a structured survey. The survey focused on project characteristics, which variants were offered and/or disclosed to participants as carrier results, methods for carrier results disclosure, and project-specific outcomes. We recorded quantitative responses and report descriptive statistics with the aim of describing the variability in approaches to disclosing carrier results in translational genomics research projects. Results: The proportion of participants with carrier results was related to the number of genes included, ranging from 3% (three genes) to 92% (4,600 genes). Between one and seven results were disclosed to those participants who received any positive result. Most projects offered participants choices about whether to receive some or all of the carrier results. There were a range of approaches to communicate results, and many projects used separate approaches for disclosing positive and negative results. Conclusion: Future translational genomics research projects will need to make decisions regarding whether and how to disclose carrier results. The CSER consortium experience identifies approaches that balance potential participant interest while limiting impact on project resources.
Bibliographical noteFunding Information:
The authors thank all of the clinical sequencing exploratory research (CSER) staff and participants for their support and involvement in this research. This work was supported by grants from the National Human Genome Research Institute and National Cancer Institute (U01 HG006485, MPI: Plon, Parsons; U01 HG006500, PI: Green; U01 HG006546, MPI: Krantz, Spinner; U01 HG006492, MPI: van Allen, Janne; UM1 HG007301, MPI: Myers, Cooper; UM1 HG007292, MPI: Goddard, Wilfond; U01 HG006487, MPI: Evans, Berg, Henderson; U01 HG006507, PI: Jarvik; R01 HG006600, PI: Chung; R01 HG006618, PI: Tabor; R01 CA154517, MPI: Petersen, Koenig, Wolf; R01 HG008605, MPI: Wolf, Clayton, Lawrenz; with additional support from U01 HG007307 (Coordinating Center)) as part of the clinical sequencing exploratory research (CSER) consortium. The ClinSeq project was supported by the Intramural Research Program of the National Human Genome Research Institute (ZIA HG20038703, PI: Biesecker).
- carrier testing
- secondary findings
- translational genomics research