Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings

Myra I. Roche; Ida Griesemer; Cynthia M. Khan; Elizabeth Moore; Feng Chang Lin; Julianne M. O’Daniel; Ann Katherine M. Foreman; Kristy Lee; Bradford C. Powell; Jonathan S. Berg; James P. Evans; Gail E. Henderson; Christine Marie Rini

doi:10.1038/s41436-018-0294-z

Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings

Myra I. Roche^*, Ida Griesemer, Cynthia M. Khan, Elizabeth Moore, Feng Chang Lin, Julianne M. O’Daniel, Ann Katherine M. Foreman, Kristy Lee, Bradford C. Powell, Jonathan S. Berg, James P. Evans, Gail E. Henderson, Christine Marie Rini

^*Corresponding author for this work

Medical Social Sciences

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Abstract

Purpose: Genomic sequencing can reveal variants with limited to no medical actionability. Previous research has assessed individuals’ intentions to learn this information, but few report the decisions they made and why. Methods: The North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) project evaluated adult patients randomized to learn up to six types of non–medically actionable secondary findings (NMASF). We previously found that most participants intended to request NMASF and intentions were strongly predicted by anticipated regret. Here we examine discrepancies between intentions and decisions to request NMASF, hypothesizing that anticipated regret would predict requests but that this association would be mediated by participants’ intentions. Results: Of the 76% who expressed intentions to learn results, only 42% made one or more requests. Overall, only 32% of the 155 eligible participants requested NMASF. Analyses support a plausible causal link between anticipated regret, intentions, and requests. Conclusions: The discordance between participants’ expressed intentions and their actions provides insight into factors that influence patients’ preferences for genomic information that has little to no actionability. These findings have implications for the timing and methods of eliciting preferences for NMASF and suggest that decisions to learn this information have cognitive and emotional components.

Original language	English (US)
Pages (from-to)	1092-1099
Number of pages	8
Journal	Genetics in Medicine
Volume	21
Issue number	5
DOIs	https://doi.org/10.1038/s41436-018-0294-z
State	Published - May 1 2019

Funding

The research on which this study is based was funded by the National Human Genome Research Institute of the National Institutes of Health under award U01 HG006487-01. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. We would like to thank Sonia Guarda for her help in recruitment and Debra Skinner for her helpful advice.

Keywords

anticipated regret
informed consent
non-medically actionable secondary findings
research genomic sequencing

ASJC Scopus subject areas

Genetics(clinical)

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10.1038/s41436-018-0294-z

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Roche, M. I., Griesemer, I., Khan, C. M., Moore, E., Lin, F. C., O’Daniel, J. M., Foreman, A. K. M., Lee, K., Powell, B. C., Berg, J. S., Evans, J. P., Henderson, G. E., & Rini, C. M. (2019). Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings. Genetics in Medicine, 21(5), 1092-1099. https://doi.org/10.1038/s41436-018-0294-z

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title = "Factors influencing NCGENES research participants{\textquoteright} requests for non–medically actionable secondary findings",

abstract = "Purpose: Genomic sequencing can reveal variants with limited to no medical actionability. Previous research has assessed individuals{\textquoteright} intentions to learn this information, but few report the decisions they made and why. Methods: The North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) project evaluated adult patients randomized to learn up to six types of non–medically actionable secondary findings (NMASF). We previously found that most participants intended to request NMASF and intentions were strongly predicted by anticipated regret. Here we examine discrepancies between intentions and decisions to request NMASF, hypothesizing that anticipated regret would predict requests but that this association would be mediated by participants{\textquoteright} intentions. Results: Of the 76\% who expressed intentions to learn results, only 42\% made one or more requests. Overall, only 32\% of the 155 eligible participants requested NMASF. Analyses support a plausible causal link between anticipated regret, intentions, and requests. Conclusions: The discordance between participants{\textquoteright} expressed intentions and their actions provides insight into factors that influence patients{\textquoteright} preferences for genomic information that has little to no actionability. These findings have implications for the timing and methods of eliciting preferences for NMASF and suggest that decisions to learn this information have cognitive and emotional components.",

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author = "Roche, \{Myra I.\} and Ida Griesemer and Khan, \{Cynthia M.\} and Elizabeth Moore and Lin, \{Feng Chang\} and O{\textquoteright}Daniel, \{Julianne M.\} and Foreman, \{Ann Katherine M.\} and Kristy Lee and Powell, \{Bradford C.\} and Berg, \{Jonathan S.\} and Evans, \{James P.\} and Henderson, \{Gail E.\} and Rini, \{Christine Marie\}",

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doi = "10.1038/s41436-018-0294-z",

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AU - Griesemer, Ida

AU - Khan, Cynthia M.

AU - Moore, Elizabeth

AU - Lin, Feng Chang

AU - O’Daniel, Julianne M.

AU - Foreman, Ann Katherine M.

AU - Lee, Kristy

AU - Powell, Bradford C.

AU - Berg, Jonathan S.

AU - Evans, James P.

AU - Henderson, Gail E.

AU - Rini, Christine Marie

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N2 - Purpose: Genomic sequencing can reveal variants with limited to no medical actionability. Previous research has assessed individuals’ intentions to learn this information, but few report the decisions they made and why. Methods: The North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) project evaluated adult patients randomized to learn up to six types of non–medically actionable secondary findings (NMASF). We previously found that most participants intended to request NMASF and intentions were strongly predicted by anticipated regret. Here we examine discrepancies between intentions and decisions to request NMASF, hypothesizing that anticipated regret would predict requests but that this association would be mediated by participants’ intentions. Results: Of the 76% who expressed intentions to learn results, only 42% made one or more requests. Overall, only 32% of the 155 eligible participants requested NMASF. Analyses support a plausible causal link between anticipated regret, intentions, and requests. Conclusions: The discordance between participants’ expressed intentions and their actions provides insight into factors that influence patients’ preferences for genomic information that has little to no actionability. These findings have implications for the timing and methods of eliciting preferences for NMASF and suggest that decisions to learn this information have cognitive and emotional components.

AB - Purpose: Genomic sequencing can reveal variants with limited to no medical actionability. Previous research has assessed individuals’ intentions to learn this information, but few report the decisions they made and why. Methods: The North Carolina Clinical Genomic Evaluation by Next Generation Exome Sequencing (NCGENES) project evaluated adult patients randomized to learn up to six types of non–medically actionable secondary findings (NMASF). We previously found that most participants intended to request NMASF and intentions were strongly predicted by anticipated regret. Here we examine discrepancies between intentions and decisions to request NMASF, hypothesizing that anticipated regret would predict requests but that this association would be mediated by participants’ intentions. Results: Of the 76% who expressed intentions to learn results, only 42% made one or more requests. Overall, only 32% of the 155 eligible participants requested NMASF. Analyses support a plausible causal link between anticipated regret, intentions, and requests. Conclusions: The discordance between participants’ expressed intentions and their actions provides insight into factors that influence patients’ preferences for genomic information that has little to no actionability. These findings have implications for the timing and methods of eliciting preferences for NMASF and suggest that decisions to learn this information have cognitive and emotional components.

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Factors influencing NCGENES research participants’ requests for non–medically actionable secondary findings

Abstract

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