ArticleEuropean journal of human genetics : EJHG2017
Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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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
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- An electronic review of clinical outcomes after return of actionable genetic research results from a health system research biobank.European journal of medical genetics · 2025Trial
- Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial.Journal of genetic counseling · 2023Trial
- A randomized study of digital versus genetic counselor return of actionable genetic research results to biobank participants (RESPECT3 study).BMC medical ethics · 2026Article
- Return of health research findings in Nigeria-perspective of potential research participants.BMC medical ethics · 2026Article
- Return of health research findings in Nigeria-perspective of potential research participants.Research square · 2025Article
- Ethical and social reflections on the proposed European Health Data Space.European journal of human genetics : EJHG · 2024Article
- Uptake of Genetic Research Results and Patient-Reported Outcomes With Return of Results Incorporating Web-Based Predisclosure Education.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
- 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
- An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.European journal of human genetics : EJHG · 2023Article
- Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Perspectives and ethical considerations for return of genetics and genomics research results: a qualitative study of genomics researchers in Uganda.BMC medical ethics · 2021Article
- Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.Journal of community genetics · 2021Article
- Participant choices for return of genomic results in the eMERGE Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Choices, attitudes, and experiences of genetic screening in Latino/a and Ashkenazi Jewish individuals.Journal of community genetics · 2020Article
- In Different Voices: The Views of People with Disabilities about Return of Results from Precision Medicine Research.Public health genomics · 2020Article
- Criteria for reporting incidental findings in clinical exome sequencing - a focus group study on professional practices and perspectives in Belgian genetic centres.BMC medical genomics · 2019Article
- Development of patient "profiles" to tailor counseling for incidental genomic sequencing results.European journal of human genetics : EJHG · 2019Article
- Article
- Diagnostic Utility of Exome Sequencing for Kidney Disease.The New England journal of medicine · 2019Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choices made for return of PR and SF during informed consent by members of the first 247 families (790 individuals) enrolled in the Baylor-Hopkins Center for Mendelian Genomics, a genome sequencing study. Most (619; 78.3%) chose to receive SF and PR, 66 (8.4%) chose PR only, 65 (8.2%) wanted no results, and 40 (5.1%) chose SF only. Choosing SF was associated with an established clinical diagnosis in the proband (87.8 vs 79%, P=0.009) and European ancestry (EA) (87.7 vs 73%, P<0.008). Participants of non-European ancestry (NEA) were as likely as those of EA to choose SF when consented by a genetic counselor (GC) (82% NEA vs 88.3% EA, P=0.09) but significantly less likely when consented by a physician (67.4% NEA vs 85.4% EA, P=0.001). Controlling for proband diagnosis, individuals of NEA were 2.13-fold (95% CI: 1.11-4.08) more likely to choose SF when consented by a GC rather than a physician. Participants of NEA were 3-fold more likely than those of EA to decline all study results (14.7% NEA vs 5.4% EA, P<0.008). In this ethnically diverse population, whereas most participants desired PR and SF, more than 20% declined some or all results, highlighting the importance of research participant choice.
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