Mainstreamed genetic testing for women with ovarian cancer: first-year experience

Abstract

Abstract:Background: Ovarian cancer is the fifth most common cause of cancer death for women in

Oncologist-led BRCA ‘mainstreaming’ in the ovarian cancer clinic: A study of 255 patients and its impact on their management

“…Discussion epidemiology of imperial college Healthcare nHS trust cohort, and comparisons to other published literature. When considering the epidemiology of this cohort, these results are generally in line with other cohorts of ovarian cancer patients who have undergone systematic BRCA testing at other centres in the UK or abroad [5][6][7][8]11 . The age of diagnosis is lower in the BRCAm population than BRCAwt population, which reflects one of the hallmarks of BRCA-associated disease 6,7,9 .…”

“…There is an overwhelming body of literature advocating that germline BRCA testing should be offered to all women with a diagnosis of non-mucinous ovarian cancer, irrespective of age at diagnosis or family history of BRCA-associated cancer [5][6][7]9,17,22 . The NICE Clinical Guideline on Familial Breast Cancer (CG164) recommends that BRCA testing be offered to any woman with ovarian cancer where the probability of carrying a BRCA mutation is 10% or greater 23 -considering that the prevalence of BRCA mutation carriers in non-mucinous ovarian cancer cohorts is around 13-15% [5][6][7][8][9] , this would indicate that all patients with a diagnosis of non-mucinous ovarian cancer should be offered BRCA testing. This is further supported by the recommendation of the Independent Cancer Taskforce, who suggest that BRCA testing should be offered at the point of diagnosis to the aforementioned patient group 24 .…”

“…Although relatively new, there is a growing body of evidence supporting the feasibility of an oncologist-led 'mainstreaming' approach 5,8,17,18 -where the oncology team introduce the concept of genetic testing and obtain patient consent as part of routine appointments, deliver initial results and then refer any identified BRCAm patients or those with a Variant of Unknown Significance (VUS) on to specialised genetic departments for counselling and cascade testing of potentially affected family members.…”

“…Identifying ovarian cancer patients carrying germline breast cancer gene (BRCA) mutations provides important insight into why the patient may have developed ovarian cancer, is indicative of the patient's prognosis and can help determine the optimal therapeutic interventions and best approach to clinical management of their disease 4,5 . characteristics of BRCA-mutated (BRCAm) ovarian cancer and impact of BRCA status on clinical decision making. Previous studies indicate that the prevalence of germline BRCA mutation carriers in a non-mucinous ovarian cancer cohort is around 13-15% [5][6][7][8][9] . The mean age of diagnosis of ovarian cancer in patients carrying a BRCA1 mutation can be five to ten years lower than the mean age of diagnosis of BRCA wild-type (BRCAwt) patients (patients carrying BRCA2 mutations do not show such a marked difference in age of diagnosis from the BRCAwt population) 7,9,10 .…”

The New Genomics Era: Integration of genomics into mainstream oncology and implications for psycho‐oncological care

“…Rapid genetic testing at time of diagnosis is now well established for ovarian cancer. [8][9][10][11] Impressive clinical trial results 12 created a stage shift such that BRCA testing is now requested at diagnosis in order to consider first-line maintenance treatment with a PARP inhibitor. All women with high-grade epithelial ovarian cancer (regardless of age or family history of breast/ovarian cancer) should be offered testing.…”