ArticleMolecular genetics & genomic medicine2018
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Article in Molecular genetics & genomic medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Factors That Impact Hospital-Specific Enrollment Rates for a Neonatal Clinical Trial: An Analysis of the HEAL Study.Ethics & human research · 2023Trial
- Ethical, legal, and social implications (ELSI) and challenges in the design of a randomized controlled trial to test the online return of cancer genetic research results to U.S. Black women.Contemporary clinical trials · 2023Article
- Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.European journal of human genetics : EJHG · 2023Article
- Interest in Cancer Predisposition Testing and Carrier Screening Offered as Part of Routine Healthcare Among an Ethnically Diverse Sample of Young Women.Frontiers in genetics · 2022Article
- Participant choices for return of genomic results in the eMERGE Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.American journal of human genetics · 2020Article
- Integrating Genomics into Healthcare: A Global Responsibility.American journal of human genetics · 2019Article
- Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Molecular genetics & genomic medicine · 2018Article
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31 authors.
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Abstract
backgroundClinical 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.
methodsRepresentatives 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.
resultsThe 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.
conclusionFuture 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.
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