Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

Autor:	Barbara A. Koenig, Katie Bergstrom, Ellen Wright Clayton, Yaping Yang, Carolyn Sue Richards, Levi A. Garraway, Sawona Biswas, Kevin M. Bowling, Kathryn M. Porter, Susan M. Hiatt, Tia L. Kauffman, Natasha T. Strande, Holly K. Tabor, Susan M. Wolf, Laura M. Amendola, Katrina A.B. Goddard, Gregory M. Cooper, Gail P. Jarvik, Jonathan S. Berg, Laura K. Conlin, Matthew C. Dulik, Robert C. Green, Danielle R. Azzariti, Wendy K. Chung, Leslie G. Biesecker, Seema M. Jamal, Benjamin S. Wilfond, Arezou A. Ghazani, Heidi L. Rehm, Katie L. Lewis
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	0301 basic medicine Exploratory research Context (language use) Genetic Counseling Disease Disclosure 030105 genetics & heredity Carrier testing translational genomics research Translational Research Biomedical 03 medical and health sciences Genetics Humans Translational genomics carrier testing Molecular Biology Exome genome Genetics (clinical) Exome sequencing Medical education Descriptive statistics Whole Genome Sequencing Genetic Carrier Screening Original Articles secondary findings Original Article Psychology exome Facilities and Services Utilization
Zdroj:	Molecular Genetics & Genomic Medicine
ISSN:	2324-9269
Popis:	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.
Databáze:	OpenAIRE
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