ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic review of preferences for additional findings from genomic testing.European journal of human genetics : EJHG · 2026Pooled it
- Prevalence and predictors of medical information avoidance: a systematic review and meta-analysis.Annals of behavioral medicine : a publication of the Society of Behavioral Medicine · 2025Pooled it
- ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Trial
- Opportunistic genomic screening of healthy controls in an Australian biobank.European journal of human genetics : EJHG · 2026Article
- Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing.Journal of genetic counseling · 2026Article
- Global Perspectives on Managing Incidental and Secondary Findings in Genomic Testing: A Comprehensive Review of Policies, Implementation Challenges, and Stakeholder Perspectives.Annals of laboratory medicine · 2026Review
- Implementing secondary findings analysis in a genetic and environmental research study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Research Participant Interest in Learning Results of Biomarker Tests for Alzheimer Disease.JAMA network open · 2025Observational
- Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.American journal of human genetics · 2025Article
- How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.Personalized medicine · 2025Article
- Views of adults living with sickle cell disease on the theoretical return of secondary genomic findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Return of Participants' Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community.Journal of personalized medicine · 2023Article
- Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal.Annual review of genomics and human genetics · 2023Review
- Article
- Return of Participants' Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community.Research square · 2023Article
- Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.Genetics in medicine open · 2023Article
- Perceived end-of-life educational needs by clinical trials nurses at a comprehensive cancer center.Asia-Pacific journal of oncology nursing · 2022Article
- Invited Commentary on "My Research Results: a program to facilitate return of clinically actionable genomic research findings" by Willis et al.European journal of human genetics : EJHG · 2022Article
- When Not to Ask: A Defense of Choice-Masking Nudges in Medical Research.Journal of health care law & policy · 2022Article
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Authors and funding
7 authors.
Funding
Abstract
purposeProposals to return medically actionable secondary genetic findings (SFs) in the clinical and research settings have generated controversy regarding whether to solicit individuals' preferences about their "right not to know" genetic information. This study contributes to the debate by surveying research participants who have actively decided whether to accept or refuse SFs.
methodsParticipants were drawn from a large National Institutes of Health (NIH) environmental health study. Participants who had accepted SFs (n = 148) or refused SFs (n = 83) were given more detailed information about the types of SFs researchers could return and were given an opportunity to revise their original decision.
resultsForty-one of 83 initial refusers (49.4%) opted to receive SFs following the informational intervention. Nearly 75% of these "reversible refusers" thought they had originally accepted SFs. The 50.6% of initial refusers who continued to refuse ("persistent refusers") demonstrated high levels of understanding of which SFs would be returned postintervention. The most prominent reason for refusing was concern about becoming worried or sad (43.8%).
conclusionThis study demonstrates the need for a more robust informed consent process when soliciting research participants' preferences about receiving SFs. We also suggest that our data support implementing a default practice of returning SFs without actively soliciting preferences.
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