Evidence map›Paper›PMID 40081871›Full record

ArticleJournal of medical genetics2025

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.

Bethany Torr, Grace Kavanaugh, Monica Hamill, Christopher Jones, Helena Harder, Sophie Allen, Alice Garrett, Subin Choi, Rosalind Way, Rochelle Gold and 13 more

Abstract read
In one paragraph

Article in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

23 authors.

Bethany TorrDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.ORCID http://orcid.org/0000-0003-3487-9749
Grace KavanaughDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.
Monica HamillDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.
Christopher JonesClinical Trials Unit, Brighton and Sussex Medical School, Brighton, Brighton and Hove, UK.
Helena HarderSussex Health Outcomes, Research & Education in Cancer (SHORE-C), Brighton and Sussex Medical School, Brighton, UK.
Sophie AllenDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.ORCID http://orcid.org/0000-0003-4928-2240
Alice GarrettDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.ORCID http://orcid.org/0000-0001-8942-283X
Subin ChoiDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.
Rosalind WayDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.
Rochelle GoldBRCA Journey, Patient Representative, LEEDS, West Yorkshire, UK.
Amy TaylorClinical Genetics, East Anglian Medical Genetics Service, Cambridge, Cambridgeshire, UK.ORCID http://orcid.org/0000-0001-9811-330X
Rhian GabeWolfson Institute of Population Health, London, London, UK.
Anneke LucassenClinical Ethics, University of Oxford, Oxford, UK.
Ranjit ManchandaWolfson Institute of Preventive Medicine, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0003-3381-5057
Angela GeorgeDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.
Michael HubankCentre for Molecular Pathology, Institute of Cancer Research Sutton, Sutton, Surrey, UK.
Stephen BremnerClinical Trials Unit, Brighton and Sussex Medical School, Brighton, Brighton and Hove, UK.
Ashu GandhiPrevent Breast Cancer Centre, Wythenshawe Hospital Manchester Universities Foundation Trust, Wythenshawe, Manchester, UK.ORCID http://orcid.org/0000-0002-7264-6201
Zoe KempDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK.ORCID http://orcid.org/0000-0003-2692-0369
D Gareth EvansDivision of Evolution, Infection and Genomic Sciences, The University of Manchester, Manchester, UK.
Lesley FallowfieldSussex Health Outcomes, Research & Education in Cancer (SHORE-C), Brighton and Sussex Medical School, Brighton, UK.
Valerie JenkinsSussex Health Outcomes, Research & Education in Cancer (SHORE-C), Brighton and Sussex Medical School, Brighton, UK.
Clare TurnbullDivision of Genetics and Epidemiology, Institute of Cancer Research, Sutton, UK turnbull.lab@icr.ac.uk.ORCID http://orcid.org/0000-0002-3797-7398

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWe trialled the first digital pathway (BRCA-DIRECT) aiming to improve capacity for mainstreamed BRCA testing within UK breast oncology services. Patients received standardised digital pretest information, with saliva sampling and consent to testing completed at home. For individualised support, we offered access to a clinical genetics professional via a telephone helpline (TH).

methodsTo evaluate the utilisation, uptake and resource requirements for provision of the TH, we analysed data from structured call logs recorded in the BRCA-DIRECT Study. Mixed-methods analysis included combining quantitative data from call logs and patient demographics with thematic analysis of free-text notes establishing reasons for calls. Additional data were analysed from structured telephone interviews.

resultsCalls were received from 201/1140 (17.6%) patients. We identified that 84.6% of calls (274 calls, 1097 min) pertained to 'administrative' support needs only. The remaining 15.4% required a clinical genetics professional (50 calls, 344 min). Of the clinical calls received: 26.0% were placed prior to test consent, 36.0% while awaiting results and 38.0% post results, with median (interquartile) call lengths of 8 (4-10) min; 5.5 (4-10) min; and 5 (3-7) min, respectively. Across all 1140 patients, a mean of 0.3 min of clinical time was required per patient.

conclusionsOur findings demonstrate that the 'BRCA-DIRECT' model of standardised information provision served most patients, with a minority using the helpline for supplementary clinical information or support. The modest per-patient requirement for clinical time supports the scalability of this model for expanding mainstream genetic testing within UK oncology services.

Indexed as

BRCA1 ProteinBRCA2 ProteinBreast NeoplasmsGenetic CounselingGenetic TestingHotlinesAdultAgedFemaleHumansMiddle AgedTelephoneBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanGenetic CounsellingGenetic TestingGermline MutationHealth Services AdministrationMedical Oncology

Identifiers

PMID40081871
PMCPMC12015060

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Registered trials

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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.