ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 4 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
29 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- The Psychosocial Impact of Receiving Whole Genome and Whole Exome Sequencing Results in Adults: A Systematic Review.Journal of genetic counseling · 2026Pooled it
- REPRESENT recommendations: improving inclusion and trust in cancer early detection research.British journal of cancer · 2023Pooled it
- Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review.Prenatal diagnosis · 2020Pooled it
- Trial
- Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions.Journal of medical genetics · 2026Article
- Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child.Molecular genetics & genomic medicine · 2024Article
- Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study.Orphanet journal of rare diseases · 2024Article
- Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.Frontiers in medicine · 2024Article
- The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients.Journal of genetic counseling · 2022Article
- Cancer patients' understandings of genetic variants of uncertain significance in clinical care.Journal of community genetics · 2022Article
- Discovery of over 200 new and expanded genetic conditions using GeneMatcher.Human mutation · 2022Article
- Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.Journal of community genetics · 2022Article
- A scoping review of practice recommendations for clinicians' communication of uncertainty.Health expectations : an international journal of public participation in health care and health policy · 2021Article
- Hope versus reality: Parent expectations of genomic testing.Patient education and counseling · 2021Article
- Should All Individuals Be Screened for Genetic Predisposition to Cancer?Genetics research · 2021Review
- Adult patients with undiagnosed conditions and their responses to unresolved uncertainty from exome sequencing.Journal of genetic counseling · 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
9 authors.
Funding
Abstract
PurposeClinical genome sequencing produces uncertain diagnostic results, raising concerns about how to communicate the method's inherent complexities in ways that reduce potential misunderstandings and harm. This study investigates clinicians' communications and patient/participant responses to uncertain diagnostic results arising from a clinical exome sequencing research study, contributing empirical data to the debate surrounding disclosure of uncertain genomic information.MethodsWe investigated the communication and impact of uncertain diagnostic results using ethnographic observations of result disclosures with 21 adults and 11 parents of child patients, followed by two semistructured interviews with these same participants.ResultsParticipants understood their uncertain results in ways that were congruent with clinical geneticists' communications. They followed recommendations for further consultation, although family testing to resolve uncertainty was not always done. Participants were prepared for learning an uncertain result and grasped the key concept that it should not be used to guide health-care or other decisions. They did not express regret for having learned the uncertain result; most regarded it as potentially valuable in the future.ConclusionThis study suggests that uncertain diagnostic results from genome sequencing can be relayed to patients in ways they can understand and consistent with providers' interpretations, without causing undue harm.
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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.