ArticleFamilial cancer2016
The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety.
Article in Familial cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04533555 (Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer), which is not on this map. Cited by 41 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.
Randomized Trial of Universal vs. Guideline-directed Germline Testing Among Young Adults With Cancer
Who cites it
41 citing papers in PubMed, 4 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review.European journal of human genetics : EJHG · 2023Pooled it
- Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Pooled it
- A systematic review of theory-informed strategies used in interventions fostering family genetic risk communication.Patient education and counseling · 2022Pooled it
- The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice.Familial cancer · 2019Pooled it
- Direct letters to relatives at risk of hereditary cancer-a randomised trial on healthcare-assisted versus family-mediated risk disclosure.European journal of human genetics : EJHG · 2025Trial
- Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiences.European journal of human genetics : EJHG · 2026Article
- Patients' and family members' experiences with cascade testing for Lynch syndrome in the USA: a qualitative interview study.Journal of community genetics · 2026Article
- Cascade counselling and testing. Recommendations of the European Society of Human Genetics.European journal of human genetics : EJHG · 2026Article
- Health professionals contacting patients' relatives directly about genetic risk (with patient consent): current clinical practice and perspectives.European journal of human genetics : EJHG · 2025Article
- Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent).European journal of human genetics : EJHG · 2025Article
- Familial communication and cascade testing following elective genomic testing.Journal of genetic counseling · 2025Article
- Cascade genetic testing in hereditary cancer: exploring the boundaries of the Italian legal framework.Familial cancer · 2024Article
- Psychosocial barriers and facilitators for cascade genetic testing in hereditary breast and ovarian cancer: a scoping review.Familial cancer · 2024Article
- Cascade genetic counseling and testing in hereditary syndromes: inherited cardiovascular disease as a model: a narrative review.Familial cancer · 2024Review
- The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer.European journal of human genetics : EJHG · 2024Article
- Strategies to improve implementation of cascade testing in hereditary cancer syndromes: a systematic review.NPJ genomic medicine · 2024Article
- Direct notification by health professionals of relatives at-risk of genetic conditions (with patient consent): views of the Australian public.European journal of human genetics : EJHG · 2024Article
- Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives.European journal of human genetics : EJHG · 2024Article
- Applying the framework for developing and evaluating complex interventions to increase family communication about hereditary cancer.PEC innovation · 2023Article
- Privacy Implications of Contacting the At-Risk Relatives of Patients with Medically Actionable Genetic Predisposition, with Patient Consent: A Hypothetical Australian Case Study.Biotech (Basel (Switzerland)) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPredictive genetic testing has high impact on cancer prevention for BRCA carriers and passing this information in BRCA families is important. Mostly, this is proband-mediated but this path is defective and denies relatives lifesaving information.
objectiveTo assess the efficacy/safety of an intervention, in which relatives are actively informed.
designSequential prospective study in new BRCA families. The proband informed relatives about predictive testing (phase I). After 6 months, a letter was sent to adult relatives who had not been reached (phase II). Then a phone call was made to obtain a final notion of their wishes. All subjects received psychometric testing (State-Trait Anxiety Inventory, STAI), an interview and routine counselling.
resultsTwenty families were included. Twenty-four of the relatives could not be reached, 59 were 'decliners', 47 participated by the proband and 42 by the letter. Predictive testing was performed in 98% of the participants of which 30 were mutation carriers. The intervention is psychologically safe: the 95% CI for the estimated mean difference in STAI DY1 between phase II/I subjects (mean difference -1.07, 95% CI -4.4 to 2.35, p = 0.53) shows that the mean STAI DY1 score (measured at first consult) for phase II is no more than 2.35 units higher than for phase I, which is not relevant.
conclusionsA protocol directly informing relatives nearly doubles the number of relatives tested and is psychologically safe. This should lead to a change in counselling guidelines in families with a strong germline predisposition for cancer.
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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.