Journal of Community GeneticsGeneticsPeer-reviewed journal article
A cost analysis of a cancer genetic service model in the UK
Ingrid Slade, Helen Hanson, Angela George, Kelly Kohut, Ann Strydom, Sarah Wordsworth, Nazneen RahmaniD, MCG Programme
Abstract
BackgroundTechnological advances in DNA sequencing have made gene testing fast and more affordable. Evidence of cost-effectiveness of genetic service models is essential for successful translation, but remain sparse in the literature. In particular there is a lack of cost data related to genetic services.\n\nMethodsA detailed micro-costing of 28 pathways relating to breast and/or ovarian cancer and gene testing for the BRCA1 and BRCA2 genes (termed BRCA testing) was carried out. These data were combined with patient-level data from a Royal Marsden Cancer Genetics Service audit during which BRCA testing was offered to individuals at [≥]10% risk of having a mutation.\n\nResultsThe average cost across all pathways was {pound}2,222.68 (range {pound}376.47-{pound}13,531.24). The average pathway cost for a person with cancer was {pound}1897.71 compared to {pound}2,403.22 for a person without cancer. Of the women seen during audit period, 38% were affected with breast and/or ovarian cancer and 62% were unaffected but concerned about their family history.\n\nConclusionThere is considerable variation in the costs of different gene testing pathways. Improved cost-efficiency could be achieved by increasing the proportion of cancer patients tested, because the pathway cost of an unaffected individual in whom testing has already been performed in a relative with cancer is considerably less.\n\nAcknowledgementsWe acknowledge NHS funding to the Royal Marsden/ICR NIHR Specialist Biomedical Research Centre for Cancer. SW is supported by funding through the NIHR Oxford Biomedical Research Centre. This work was supported by Wellcome Trust Award 098518/Z/12/Z. For MCG programme see www.mcgprogramme.com.\n\nConflict of Interest StatementThere are no conflicts of interests for any author of this paper
- organism: human
- assay: DNA methylation
- assay: whole-genome sequencing
- research focus: benchmarking
- approach: statistical model
Reproducibility ledger
Nobody has reported trying to reproduce this paper yet. Did you replicate an experiment or run the code? Your report saves the next lab a week.
Sign in to file a reproducibility report.
Related papers
- Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients
Angela George, Daniel Riddell, … Mainstreaming Cancer Genetics (MCG) Programme·bioRxiv·Mar 16, 2016
- A discrete event simulation to evaluate the cost effectiveness of germline BRCA1 and BRCA2 testing in UK women with ovarian cancer
Anthony Eccleston, Anthony Bentley, … Nazneen Rahman·bioRxiv·Jun 24, 2016
- BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial
Bethany Torr, Christopher Iain Jones, … Clare Turnbull·British Journal of CancerPeer-reviewed·Sep 30, 2024
- Socioeconomic and Clinical Determinants Driving Access to BRCA Genetic Testing in Cancer : A Case-Control Study Using Observational Electronic Health Records Across Multiple Sites
Qiang Yang, Chengrong Wang, … Rui Yin·medRxiv·May 21, 2026
- Routine germline genetic testing in 3552 unselected NHS breast cancer patients: Evidence informing testing criteria and implementation of a 'BRCA-DIRECT' mainstreaming pathway
Bethany Torr, Lea Mansour, … Clare Turnbull·npj Breast CancerPeer-reviewed·Jul 9, 2026
- Genetic testing in cancer: a systematic review of patient reported measures
Kelsie Raspin, Daisy Nowakowski, … Jessica K. Roydhouse·medRxiv·Jul 7, 2025