ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Participant use and communication of findings from exome sequencing: a mixed-methods study.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 5 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
41 citing papers in PubMed, 5 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
- Demographic Characteristics Associated With Perceptions of Personal Utility in Genetic and Genomic Testing: A Systematic Review.JAMA network open · 2023Pooled it
- A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled 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 Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.Journal of general internal medicine · 2018Trial
- Outcomes of a Randomized Controlled Trial of Genomic Counseling for Patients Receiving Personalized and Actionable Complex Disease Reports.Journal of genetic counseling · 2017Trial
- Moving from Bench to Bedside: A Social History of Actionability in Biomedicine.medRxiv : the preprint server for health sciences · 2026Article
- Using mixed methods for genetic counseling research.Journal of genetic counseling · 2025Article
- How people undergoing genomic sequencing interpret and react to varied secondary findings with limited actionability.Personalized medicine · 2025Article
- How Clinicians Conceptualize "Actionability" in Genomic Screening.Journal of personalized medicine · 2023Article
- Sharing genetic test results of germline pathogenic variants of hereditary cancer with relatives: A single-center cross-sectional study.Japanese journal of clinical oncology · 2021Article
- A study of elective genome sequencing and pharmacogenetic testing in an unselected population.Molecular genetics & genomic medicine · 2021Article
- Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.NPJ genomic medicine · 2021Article
- Views on genomic research result delivery methods and informed consent: a review.Personalized medicine · 2021Review
- Effects of health literacy skills, educational attainment, and level of melanoma risk on responses to personalized genomic testing.Patient education and counseling · 2021Article
- Recommendations for designing genetic test reports to be understood by patients and non-specialists.European journal of human genetics : EJHG · 2020Article
- Decisional conflict among adolescents and parents making decisions about genomic sequencing results.Clinical genetics · 2020Article
- Are providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals.BMC health services research · 2019Article
- Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
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
purposeThis study investigated how genome sequencing results affect health behaviors, affect, and communication.
methodsWe report on 29 participants who received a sequence result in the ClinSeq study, a cohort of well-educated, postreproductive volunteers. A mixed-methods design was used to explore respondents' use, communication, and perceived utility of results.
resultsMost participants (72%) shared their result with at least one health-care provider, and 31% reported subsequent changes in the health care they received. Participants scored high on the Positive Experiences subscale and low on the Distress subscale of a modified version of the Multidimensional Impact of Cancer Risk Assessment. The majority (93%) shared their result with at least one family member. Participants described deriving personal utility from their results.
conclusionThis article is the first to describe research participants' reactions to actionable sequencing results. Our findings suggest clinical and personal benefit from receiving sequencing results, both of which may contribute to improved health for the recipients. Given the participants' largely positive or neutral affective responses and disclosure of their results to physicians and relatives, health-care providers should redirect concern from the potential for distress and attend to motivating patients to follow their medical recommendations.Genet Med 18 6, 577-583.
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.