Mainstreamed genetic testing in ovarian cancer: A case study of BRCA1/2 tumour testing

Background With the advent of targeted therapies in ovarian cancer (OC), there is an impetus to identify patients with a BRCA1/2 mutation. Germline testing has already been integrated into the oncology setting using a mainstreamed model (MGT). Tumour testing is now available to detect the presence of somatic BRCA1/2 mutations. Aim To explore the introduction of mainstreamed BRCA1/2 tumour testing (MTT) in OC, focusing on clinical outcomes and patient experience. Methods A case study approach, using different research methods, was taken to gain an in depth understanding of the case (MTT) within its context. Results A service evaluation of the current state of MGT at UCLH found that in the 122 patients who were tested over 12 months, germline BRCA1/2 mutation prevalence was 14.8%. Developing the MTT pathway was feasible but challenging; delays were related to retrieval and review of archived tumour tissue. First-line MTT was provided for fifty patients; one somatic and eight germline mutations were identified. More than half this sample (52.6%) required follow-up germline testing. A prospective study using validated measures found no change in distress or quality of life scores before, during and after MTT. Patients reported low decisional conflict scores and no decision regret over MTT. After results disclosure patients with a genetic alteration had significantly more testing-related distress. Qualitative interviews revealed MTT was a brief, transient experience in the context of facing OC. Genetic misconception was common, with patients incorrectly attributing a hereditary component to tumour testing. Primary motivations for testing were related to clarifying genetic risk information for family, rather than personal benefit for treatment options. Conclusion A more streamlined process of providing MTT is needed. While MTT appears to have little psychosocial impact, poor understanding of the distinction between germline and somatic mutations indicates the need for improved communication and information provision in OC