ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
Preferences for results delivery from exome sequencing/genome sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 4 of them syntheses that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
44 citing papers in PubMed, 4 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
- 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
- How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.Personalized medicine · 2025Article
- Research participant perceptions of personal utility in disclosure of individual research results from genomic analysis.Journal of community genetics · 2024Article
- 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
- 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
- Great expectations: patients' preferences for clinically significant results from genomic sequencing.Human genetics · 2023Article
- Genotype first: Clinical genomics research through a reverse phenotyping approach.American journal of human genetics · 2023Review
- Participant views on practical considerations for feedback of individual genetic research results: a case study from Botswana.Global bioethics = Problemi di bioetica · 2023Article
- Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022Review
- Exploring the motivations of research participants who chose not to learn medically actionable secondary genetic findings about themselves.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- To disclose, or not to disclose? Perspectives of clinical genomics professionals toward returning incidental findings from genomic research.BMC medical ethics · 2021Article
- Views on genomic research result delivery methods and informed consent: a review.Personalized medicine · 2021Review
- Pharmacogenomics cascade testing (PhaCT): a novel approach for preemptive pharmacogenomics testing to optimize medication therapy.The pharmacogenomics journal · 2021Review
- Quality of life drives patients' preferences for secondary findings from genomic sequencing.European journal of human genetics : EJHG · 2020Article
- Preferences for Return of Genetic Results Among Participants in the Jackson Heart Study and Framingham Heart Study.Circulation. Genomic and precision medicine · 2019Article
- Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.Personalized medicine · 2019Article
- Using the diffusion of innovations model to guide participant engagement in the genomics era.Journal of genetic counseling · 2019Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
purposeThe aim of this study was to explore the implications of sequencing information and stated preferences for return of results among research participants.
methodsSix focus groups were held with 39 ClinSeq participants. The groups included participants who had received results, those who had not, those affected with cardiovascular disease, and healthy adults. Audio recordings of the sessions were transcribed and coded and analyzed for themes.
resultsAll participants expressed interest in receiving results that are medically actionable, nonactionable, carrier, and less so variants that cannot be interpreted. Most participants preferred to receive results in person, although several endorsed use of Internet-based resources that they could return to. Participants identified benefits for health management along with satisfying curiosity, making scientific contributions, and partnering in research. Value was seen in gaining control over health risks. Concerns were distress and/or fear that may result. Some participants were opposed to or ambivalent about learning certain types of results, particularly those having to do with diseases that were incurable or that might have implications for the health of their children.
conclusionThere was relative enthusiasm about the value of learning sequencing information, yet it was tempered by concern about negative feeling responses and aversion to learning about incurable conditions.
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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.