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Examining the uptake of predictive BRCA testing in the UK; findings and implications

European Journal of Human Genetics volume 29, pages 699–708 (2021)Cite this article

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Abstract

Predictive BRCA testing is offered to asymptomatic individuals to predict future risk where a variant has been identified in a relative. It is uncertain whether all eligible relatives access testing, and whether this is related to health care inequalities. Our aim was to analyse trends and inequalities in uptake of testing, and identify predictors of testing and time-to-receipt of testing. A database from April 2010 to March 2017 was collated. Multivariate analysis explored individual associations with testing. Predictor variables included gender, BRCA test type, cancer history, Index of Multiple Deprivation (IMD) and education status. To evaluate factors associated with time-to-testing, a Cox proportional-hazards (CP) model was used. Of 779 tests undertaken, 336 (43.1%) were identified with a BRCA variant. A total of 537 (68.9%) were female and in 83.4% (387/464) of probands, predictive testing was received by relatives. Analysis identified inequalities since decreased testing was found when the proband was unaffected by cancer (OR 0.14, 95% CI 0.06–0.33). Median time-to-testing was 390 days (range, 0–7090 days) and the CP model also identified inequalities in the hazard ratio (HR) for testing for people aged >40 was higher than for aged <40 (HR 1.41, 95% CI 1.20–1.67) and BRCA2 testing was higher than for BRCA1 testing (HR 1.39, 95% CI 1.18–1.64). Reduced testing was found when probands were unaffected by cancer and time-to-testing was found to vary by age and BRCA1/2 test. Given limited study sample size, further research is recommended to examine inequalities in predictive BRCA testing.

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Fig. 1: Number of predictive BRCA tests conducted over time.
Fig. 2: Number of predictive BRCA tests received per family.
Fig. 3: Time from receipt of proband BRCA test to predictive BRCA testing.

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Acknowledgements

This study was supported by the National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care North West Coast (NIHR CLAHRC NWC). The investigators were solely responsible for the content and the decision to submit the paper for publication. The funding source had no role in the selection, critical appraisal, or synthesis of evidence. The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health.

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Author notes

  1. These authors contributed equally: Karen Lynn Greenhalgh, Munir Pirmohamed

Authors and Affiliations

  1. National Institute for Health Research, Collaborations for Leadership in Applied Health Research and Care, North West Coast (NIHR CLAHRC NWC), North West Coast, UK

    Antony P. Martin, Jennifer Downing, Ana Alfirevic & Munir Pirmohamed

  2. Wolfson Centre for Personalised Medicine, University of Liverpool, Liverpool, UK

    Antony P. Martin, Jennifer Downing, Ana Alfirevic & Munir Pirmohamed

  3. Department of Public Health & Policy, University of Liverpool, Liverpool, UK

    Brendan Collins

  4. Department of Clinical Pharmacology, Karolinska Institute, Stockholm, Sweden

    Brian Godman

  5. Strathclyde Institute of Pharmacy and Biomedical Sciences, Strathclyde University, Glasgow, UK

    Brian Godman

  6. Department of Public Health Pharmacy and Management, School of Pharmacy, Sefako Makgatho Health Sciences University, Garankuwa, South Africa

    Brian Godman

  7. Liverpool Women’s Hospital NHS Foundation Trust, Liverpool, UK

    Karen Lynn Greenhalgh

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Contributions

AM, JD, BC, AA, MP and KLG were involved with the conception and design of the study. AM, JD, MP and KLG were involved with acquisition of data. AM, BC, AA, BG, MP and KLG were responsible for analysis and interpretation of data. All authors contributed to drafting the article, revising it critically for important intellectual content and had final approval of the version to be published.

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Correspondence to Antony P. Martin.

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Martin, A.P., Downing, J., Collins, B. et al. Examining the uptake of predictive BRCA testing in the UK; findings and implications. Eur J Hum Genet 29, 699–708 (2021). https://doi.org/10.1038/s41431-020-00783-9

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