Live Virtual Presentation Clinical Oncology Society of Australia Annual Scientific Meeting 2020

Mainstreaming Genetic Testing (#48)

Camron Ebzery 1
  1. Genetic Health Queensland, Herston, QLD, Australia

Pathogenic BRCA1 and BRCA2 variants account for approximately 14% of high-grade, non-mucinous ovarian cancers1 and up to 5% of breast cancers2.

Identification of a pathogenic BRCA variant can influence treatment of women diagnosed with these cancers. For those with ovarian cancer, there is evidence that maintenance PARP inhibitor therapy significantly improves progression-free survival in those with platinum-sensitive relapsed ovarian cancer3. While BRCA status may influence surgical management for a proportion of women diagnosed with breast cancer4.

The growing role BRCA status plays in the management of these women has led to an increase in demand for genetic testing. One way to meet this demand is through the practice of mainstreaming. Mainstreaming involves the incorporation of genetic testing into routine cancer care, with testing performed via the treating team with support from genetic services as required5.

Within Australia, mainstreaming has been implemented in the ovarian cancer setting6. However, given the rise in precision medicine, it is likely to be applicable across a range of tumour streams. The considerations and benefits of introducing this model of service delivery routinely, as well as the health professional and patient perspective will be discussed.

  1. 1. Alsop K, Fereday S, Meldrum C, et al. BRCA mutation frequency and patterns of treatment response in BRCA mutation positive women with ovarian cancer. J. Clin. Oncol. 2012;30(21):2654-2663.
  2. 2. Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group. Br J Cancer. 2000;83(10):1301-1308.
  3. 3. Pujade-Lauraine E, Ledermann J, Selle F, et al. Olaparib tablets as maintenance therapy in patients with platinum-sensitive, relapsed ovarian cancer and a BRCA1/2 mutation (SOLO2/ENGOT-Ov21): a double blind, randomised, placebo-controlled, phase 3 trial. Lancet. 2017;18(9):1274-1284.
  4. 4. Weitzel J, McCaffrey S, Nedelcu R, et al. Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis. Arch Surg. 2003;138(12):1323-1328.
  5. 5. George A, Riddell D, Seal S, et al. Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients. Sci Rep. 2016:6:29506.
  6. 6. Gleeson M, Kentwell M, Meiser B, et al. The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients. Gynecol Oncol. 2020;158(2):431-439.