ArticleEuropean journal of human genetics : EJHG2013
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 121 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
121 citing papers in PubMed, 6 syntheses or guidelines pooled it.
- Systematic review of preferences for additional findings from genomic testing.European journal of human genetics : EJHG · 2026Pooled it
- Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.JAMA network open · 2023Pooled it
- Attitudes and beliefs regarding race-targeted genetic testing of Black people: A systematic review.Journal of genetic counseling · 2023Pooled it
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- Personal utility in genomic testing: a systematic literature review.European journal of human genetics : EJHG · 2017Pooled it
- Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Pooled 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
- A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study.European journal of human genetics : EJHG · 2018Trial
- Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial.American journal of human genetics · 2018Trial
- Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing: A Randomized Clinical Trial.JAMA internal medicine · 2018Trial
- Recommendations for return of secondary genomic findings in observational cohort studies.Nature genetics · 2026Review
- Moving from Bench to Bedside: A Social History of Actionability in Biomedicine.medRxiv : the preprint server for health sciences · 2026Article
- A randomized study of digital versus genetic counselor return of actionable genetic research results to biobank participants (RESPECT3 study).BMC medical ethics · 2026Article
- Rethinking agency for genetic testing intention among Latinos: Determining predictors of intention for carrier screening and cancer predisposition testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.Prenatal diagnosis · 2025Review
- How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.Journal of community genetics · 2024Article
- Research participants' perspectives regarding the feedback of secondary findings-A cohort from the DDD-Africa study, South Africa.Journal of genetic counseling · 2024Article
- 'Research ethics · 2024Article
- Returning Individual Research Results from Digital Phenotyping in Psychiatry.The American journal of bioethics : AJOB · 2024Article
- Personalized Roadmaps for Returning Results From Digital Phenotyping.The American journal of bioethics : AJOB · 2024Article
61 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
Genome sequencing has been rapidly integrated into clinical research and is currently marketed to health-care practitioners and consumers alike. The volume of sequencing data generated for a single individual and the wide range of findings from whole-genome sequencing raise critical questions about the return of results and their potential value for end-users. We conducted a mixed-methods study of 311 sequential participants in the NIH ClinSeq study to assess general preferences and specific attitudes toward learning results. We tested how these variables predicted intentions to receive results within four categories of findings ranging from medically actionable to variants of unknown significance. Two hundred and ninety-four participants indicated a preference to learn their genome sequencing results. Most often, participants cited disease prevention as their reason, including intention to change their lifestyle behaviors. Participants held positive attitudes, strongly perceived social norms and strong intentions to learn results, although there were significant mean differences among four categories of findings (P<0.01). Attitudes and social norms for medically actionable and carrier results were most similar and rated the highest. Participants distinguished among the types and quality of information they may receive, despite strong intentions to learn all results presented. These intentions were motivated by confidence in their ability to use the information to prevent future disease and a belief in the value of even uninterpretable information. It behooves investigators to facilitate participants' desire to learn a range of information from genomic sequencing while promoting realistic expectations for its clinical and personal utility.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.