Technological advances in DNA sequencing have made gene testing fast and more affordable. Evidence of effectiveness and cost-effectiveness of genetic service models is essential for the successful translation of sequencing improvements for patient benefit, but remain sparse in the genetics literature. In particular, there is a lack of detailed cost data related to genetic services. A detailed micro-costing of 28 possible pathways relating to breast and/or ovarian cancer and BRCA testing was carried out by defining service activities and establishing associated costs. These data were combined with patient-level data from a Royal Marsden Cancer Genetics Service audit over a 6-month period during which BRCA testing was offered to individuals at ≥10 % risk of having a mutation, in line with current NICE guidance. The average cost across all patient pathways was £2227.39 (range £376.51 to £13,553.10). The average cost per pathway for an affected person was £1897.75 compared to £2410.53 for an unaffected person. Of the women seen in the Cancer Genetics Service during the audit, 38 % were affected with breast and/or ovarian cancer, and 62 % were unaffected but concerned about their family history. The most efficient service strategy is to identify unaffected relatives from an affected individual with an identified BRCA mutation. Implementation of this strategy would require more comprehensive testing of all eligible cancer patients, which could be achieved by integrating BRCA testing into oncology services. Such integration would be also more time-efficient and deliver greater equity of access to BRCA testing than the standard service model.
Keywords: BRCA; Breast cancer; Cancer genetics; Costs; Genetic services.