Trial reportJournal of medical genetics2022
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot.
Trial report in Journal of medical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04842799 (BRCA-DIRECT), which is not on this map. Cited by 18 papers, 1 of them a synthesis 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.
BRCA-DIRECT: Randomised Evaluation in Women Diagnosed With Breast Cancer of Digitally-delivered Pre-test Information for BRCA-testing
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial.British journal of cancer · 2024Trial
- Digital genetic counseling services for cascade cardiogenetic testing.Journal of genetic counseling · 2026Article
- Optimizing risk-reducing surgery and aspirin decision aids for Lynch syndrome carriers using the person-based approach: A think-aloud interview study.Journal of genetic counseling · 2025Article
- Impact of NICE Guideline NG241 'Ovarian Cancer: identifying and managing familial and genetic risk' on a regional NHS family history and clinical genetics service.Journal of medical genetics · 2025Article
- Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer.Journal of medical genetics · 2025Article
- The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024).Journal of medical genetics · 2025Article
- Evaluation of DNA-poli: Study protocol of a randomized controlled trial to assess a digital platform for family cascade genetic testing and predictive genetic counseling.Genetics in medicine open · 2025Article
- BRCA-mutated breast cancer: the unmet need, challenges and therapeutic benefits of genetic testing.British journal of cancer · 2024Review
- BRCA genetic testing and counseling in breast cancer: how do we meet our patients' needs?NPJ breast cancer · 2024Review
- Universal Genetic Testing for Newly Diagnosed Invasive Breast Cancer.JAMA network open · 2024Article
- Online Provision ofCancers · 2024Article
- Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy.Familial cancer · 2024Review
- Hereditary genetic testing and mainstreaming: a guide for surgeons.Annals of the Royal College of Surgeons of England · 2024Article
- Screening and prevention of ovarian cancer.The Medical journal of Australia · 2024Review
- Cost-Effectiveness of Gene-Specific Prevention Strategies for Ovarian and Breast Cancer.JAMA network open · 2024Article
- Population-based germline testing ofGenetics in medicine open · 2024Article
- Building digital patient pathways for the management and treatment of multiple sclerosis.Frontiers in immunology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors.
Funding
Abstract
backgroundGermline genetic testing affords multiple opportunities for women with breast cancer, however, current UK NHS models for delivery of germline genetic testing are clinician-intensive and only a minority of breast cancer cases access testing.
methodsWe designed a rapid, digital pathway, supported by a genetics specialist hotline, for delivery of germline testing of
resultsUptake of genetic testing was 98.4%, with good satisfaction reported for both the fully and partially digital pathways. Similar outcomes were observed in both arms regarding patient knowledge score and anxiety, with <5% of patients contacting the genetics specialist hotline. All progression criteria established for continuation of the study were met.
conclusionPilot data indicate preliminary demonstration of feasibility and acceptability of a fully digital pathway for BRCA-testing and support proceeding to a full powered study for evaluation of non-inferiority of the fully digital pathway, detailed quantitative assessment of outcomes and operational economic analyses. TRIAL REGISTRATION NUMBER: ISRCTN87845055.
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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.