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

The members of the CSER Actionability and Return of Results Working Group

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
JournalMolecular Genetics and Genomic Medicine
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Translational Medical Research
Disclosure
Genomics
Exome
Research
Genome
Genes
Surveys and Questionnaires

Keywords

  • carrier testing
  • exome
  • genome
  • secondary findings
  • translational genomics research

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Approaches to carrier testing and results disclosure in translational genomics research : The clinical sequencing exploratory research consortium experience. / The members of the CSER Actionability and Return of Results Working Group.

In: Molecular Genetics and Genomic Medicine, 01.01.2018.

Research output: Contribution to journalArticle

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title = "Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience",
abstract = "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.",
keywords = "carrier testing, exome, genome, secondary findings, translational genomics research",
author = "{The members of the CSER Actionability and Return of Results Working Group} and Porter, {Kathryn M.} and Kauffman, {Tia L.} and Koenig, {Barbara A.} and Lewis, {Katie L.} and Rehm, {Heidi L.} and Richards, {Carolyn (Sue)} and Strande, {Natasha T.} and Tabor, {Holly K.} and Wolf, {Susan M.} and Yaping Yang and Amendola, {Laura M.} and Azzariti, {Danielle R.} and Berg, {Jonathan S.} and Katie Bergstrom and Biesecker, {Leslie G.} and Sawona Biswas and Bowling, {Kevin M.} and Chung, {Wendy K.} and Clayton, {Ellen W.} and Conlin, {Laura K.} and Cooper, {Gregory M.} and Dulik, {Matthew C.} and Garraway, {Levi A.} and Ghazani, {Arezou A.} and Green, {Robert C.} and Hiatt, {Susan M.} and Jamal, {Seema M.} and Jarvik, {Gail P.} and Goddard, {Katrina A.B.} and Wilfond, {Benjamin S.}",
year = "2018",
month = "1",
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doi = "10.1002/mgg3.453",
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journal = "Molecular genetics & genomic medicine",
issn = "2324-9269",
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T1 - Approaches to carrier testing and results disclosure in translational genomics research

T2 - The clinical sequencing exploratory research consortium experience

AU - The members of the CSER Actionability and Return of Results Working Group

AU - Porter, Kathryn M.

AU - Kauffman, Tia L.

AU - Koenig, Barbara A.

AU - Lewis, Katie L.

AU - Rehm, Heidi L.

AU - Richards, Carolyn (Sue)

AU - Strande, Natasha T.

AU - Tabor, Holly K.

AU - Wolf, Susan M.

AU - Yang, Yaping

AU - Amendola, Laura M.

AU - Azzariti, Danielle R.

AU - Berg, Jonathan S.

AU - Bergstrom, Katie

AU - Biesecker, Leslie G.

AU - Biswas, Sawona

AU - Bowling, Kevin M.

AU - Chung, Wendy K.

AU - Clayton, Ellen W.

AU - Conlin, Laura K.

AU - Cooper, Gregory M.

AU - Dulik, Matthew C.

AU - Garraway, Levi A.

AU - Ghazani, Arezou A.

AU - Green, Robert C.

AU - Hiatt, Susan M.

AU - Jamal, Seema M.

AU - Jarvik, Gail P.

AU - Goddard, Katrina A.B.

AU - Wilfond, Benjamin S.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - 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.

AB - 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.

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KW - exome

KW - genome

KW - secondary findings

KW - translational genomics research

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