Trial reportAJOB empirical bioethics
When bins blur: Patient perspectives on categories of results from clinical whole genome sequencing.
Trial report in AJOB empirical bioethics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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
30 citing papers in PubMed.
- Moving from Bench to Bedside: A Social History of Actionability in Biomedicine.medRxiv : the preprint server for health sciences · 2026Article
- Australian parents' perspectives on extended genomic screening: what information to return and when?European journal of human genetics : EJHG · 2026Article
- Research Participant Interest in Learning Results of Biomarker Tests for Alzheimer Disease.JAMA network open · 2025Observational
- Women's preferences for genetic screening in routine care: A qualitative study.Patient education and counseling · 2025Article
- Attitudes Towards Non-directiveness Among Medical Geneticists in Germany and Switzerland.Journal of bioethical inquiry · 2024Article
- Ethical framework for FACILITATE: a foundation for the return of clinical trial data to participants.Frontiers in medicine · 2024Article
- Article
- How Clinicians Conceptualize "Actionability" in Genomic Screening.Journal of personalized medicine · 2023Article
- Establishing the Medical Actionability of Genomic Variants.Annual review of genomics and human genetics · 2022Review
- The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.Annals of internal medicine · 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
- Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.Journal of community genetics · 2021Article
- A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.Scientific reports · 2021Article
- Engagement and return of results preferences among a primarily African American genomic sequencing research cohort.American journal of human genetics · 2021Article
- Perceptions of best practices for return of results in an international survey of psychiatric genetics researchers.European journal of human genetics : EJHG · 2021Article
- Article
- Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing.Journal of genetic counseling · 2020Article
- Participant choices for return of genomic results in the eMERGE Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- An ethical framework for genetic counseling in the genomic era.Journal of genetic counseling · 2020Article
- Health orientation and individual tendencies of a sample of Italian genetic testing consumers.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
backgroundClinical genome and exome sequencing (CGES) is being used in an expanding range of clinical settings. Most approaches to offering patients choices about learning CGES results classify results according to expert definitions of clinical actionability. Little is known about how patients conceptualize different categories of CGES results.
methodsThe MedSeq Project is a randomized controlled trial studying the use of whole-genome sequencing (WGS) in primary care and cardiology. We surveyed 202 patient-participants about different kinds of WGS results and conducted qualitative interviews with 49 of these participants. Interview data were analyzed both inductively and deductively using thematic content analysis.
resultsParticipants demonstrated high levels of study understanding and genetic literacy. A small majority of participants wanted to learn all of their WGS results (n = 123, 61%). Qualitative data provided a deeper understanding of participants' perspectives about different types of WGS results. Participants did not have the same views about which WGS results would be actionable or upsetting to learn. They conceptualized variants of uncertain significance (VUS) in a variety of different ways. Many participants expressed optimism that the uncertainty associated with VUS results could be reduced over time.
conclusionsProposals to determine which WGS/CGES results to disclose by soliciting patient preferences may fail to appreciate the complex ways patients think about disease and the information WGS/CGES can produce. Our findings challenge prevailing methods of facilitating patient choice and assessing the benefits and harms related to the return of WGS/CGES results, which mostly rely on expert definitions of clinical utility to categorize the kinds of results patients can learn.
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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.