ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Research participant interest in primary, secondary, and incidental genomic findings.
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 17 papers, 2 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
17 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic review of preferences for additional findings from genomic testing.European journal of human genetics : EJHG · 2026Pooled it
- Return of individual research results from genomic research: A systematic review of stakeholder perspectives.PloS one · 2021Pooled it
- A framework for the evaluation and reporting of incidental findings in clinical genomic testing.European journal of human genetics : EJHG · 2024Article
- An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.European journal of human genetics : EJHG · 2023Article
- Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting.European journal of human genetics : EJHG · 2022Article
- Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict.Journal of genetic counseling · 2021Article
- Reporting Genetic Findings to Individual Research Participants: Guidelines From the Swiss Personalized Health Network.Frontiers in genetics · 2020Article
- Article
- Points-to-consider on the return of results in epigenetic research.Genome medicine · 2019Review
- Genomic sequencing identifies secondary findings in a cohort of parent study participants.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.American journal of human genetics · 2018Article
- "I would like to discuss it further with an expert": a focus group study of Finnish adults' perspectives on genetic secondary findings.Journal of community genetics · 2018Article
- Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.European journal of human genetics : EJHG · 2017Article
- Older Adults' Perspectives on Clinical Research: A Focus Group and Survey Study.The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry · 2016Article
- Known unknowns: building an ethics of uncertainty into genomic medicine.BMC medical genomics · 2016Article
- Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa.AJOB empirical bioethicsArticle
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
purposeTo define the frequency with which adult research participants consent to be offered clinically validated research genetic test results (RR) and incidental findings (IF).
methodsConsents were obtained from 506 adults enrolled in one of three studies within the National Cancer Institute Clinical Genetics Branch's Familial Cancer Research Program. A cross-sectional analysis was performed involving the choices indicated on study consents regarding receipt of RR and IF.
resultsNinety-seven percent opted to receive RR and IF. Participants who declined (n = 16) included two cancer survivors who were mutation-positive (1 = RR and 1 = both), eight who knew their primary mutation status (3 = RR; 4 = IF; 1 = both), three nonbloodline relatives (1 = RR; 2 = both), one untested but with the syndromic phenotype (1 = IF), and two parents of an affected child (2 = both). We speculate that these individuals either already had sufficient information, were not prepared to learn more, or felt that the information would not change their personal health-care decision making.
conclusionsAdult research participants from families at high genetic risk for cancer overwhelmingly indicated their preference to receive both RR and IF. Future research will seek to identify the reasons for declining RR and IF and to study the impact of receipt of RR and IF on personal medical decision making.Genet Med 18 12, 1218-1225.
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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.