ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Comparative Analysis ofJCO precision oncology · 2026Article
- Online Provision ofCancers · 2024Article
- Carrier screening program forGenetics in medicine open · 2023Article
- Unselected Population Genetic Testing for Personalised Ovarian Cancer Risk Prediction: A Qualitative Study Using Semi-Structured Interviews.Diagnostics (Basel, Switzerland) · 2022Article
- Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Observational
- From the patient to the population: Use of genomics for population screening.Frontiers in genetics · 2022Article
- How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Online BRCA1/2 screening in the Australian Jewish community: a qualitative study.Journal of community genetics · 2020Article
- Assessing the implications of positive genomic screening results.Personalized medicine · 2020Article
- A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example ofCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019Article
- Article
- Review
- Familial communication and cascade testing among relatives of BRCA population screening participants.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services.Molecular genetics & genomic medicine · 2017Article
- Assessing risk for Mendelian disorders in a Bronx population.Molecular genetics & genomic medicine · 2017Article
- Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposePopulation screening for BRCA1/BRCA2. mutations is being considered for Ashkenazi Jews (AJ) because 2.5% carry recurrent deleterious mutations and effective cancer prevention exists. This study aimed to provide a qualitative focus on perspectives of individuals, particularly carriers, who were tested through a screening trial. In this trial, the pretest process included only written information.
methodsInterviews were performed with 26 carriers and 10 noncarriers who participated in a BRCA population screening trial for AJ.
resultsAttitudes toward screening were generally positive. The main motivator for testing was knowledge of BRCA status to enable cancer risk reduction. Knowledge of carrier status, although challenging, was thus viewed as health-empowering. The screening paradigm was sensed as increasing awareness and as overcoming access, referral, and familial barriers. Streamlining the pretest process was positively perceived as offering gradual, stepwise knowledge commensurate with test results. Participants were concerned that health systems provide the necessary conceptual and infrastructural framework and that individual autonomy be maintained.
conclusionsBRCA screening in AJ is viewed favorably, even by carriers. Stepwise acquisition of knowledge based on test results was viewed as most relevant to the screening context. Screening program development should account for safeguarding autonomy and providing requisite post-test services.Genet Med advance online publication 01 December 2016.
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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.