RT Journal Article
SR Electronic
T1 Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 044024
DO 10.1101/044024
A1 Angela George
A1 Daniel Riddell
A1 Sheila Seal
A1 Sabrina Talukdar
A1 Shazia Mahamdallie
A1 Elise Ruark
A1 Victoria Cloke
A1 Ingrid Slade
A1 Zoe Kemp
A1 Martin Gore
A1 Ann Strydom
A1 Susana Banerjee
A1 Helen Hanson
A1 Nazneen Rahman
A1 for the Mainstreaming Cancer Genetics (MCG) Programme
YR 2016
UL http://biorxiv.org/content/early/2016/03/16/044024.abstract
AB Background: Advances in DNA sequencing have made gene testing fast and affordable, but adaptation of clinical services to capitalise on this for patient benefit has been slow. Ovarian cancer exemplifies limitations of current systems and potential benefits of increased gene testing. Approximately 15% of ovarian cancer patients have a germline mutation in BRCA1 or BRCA2 (collectively termed ‘BRCA’) and this has substantial implications for their personal management and that of their relatives. However, in most countries implementation of BRCA testing in ovarian cancer has been inconsistent and largely unsuccessful.Methods: We developed a mainstream pathway in which BRCA testing was undertaken by cancer team members after 30 minutes online training. Patients with a mutation were sent a genetic appointment with their results. Cascade testing to relatives was performed via standard clinical genetic procedures.Findings: 207 women with ovarian cancer were offered gene testing through the mainstream pathway and all accepted. 33 (16%) had a BRCA mutation. The result informed management of 79% (121/154) women with active disease including 97% (32/33) women with a mutation. All mutation-positive women and ~3.5 relatives per family have been seen in genetics. Patient and clinician feedback was very positive. >95% found the pathway to be simple and effective. The pathway offers considerable reduction in time (~5-fold) and resource requirements (~13-fold) compared to the traditional genetic pathway. We estimate it would deliver £2.6M NHS cost savings per year, and would allow implementation of national testing recommendations with existing infrastructure.Interpretation: Mainstream genetic testing is effective, efficient and patient-centred and offers a mechanism for large-scale implementation of BRCA gene testing in cancer patients. The principles could be applied in many other countries and to many other areas of genomic medicine.