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Referral patterns for genetic counselling of women diagnosed with tubo‐ovarian or peritoneal high‐grade serous carcinoma ( HGSC ) within the Auckland Gynaecological Oncology Centre
Author(s) -
Burling Michael J,
Gamet Kimberly,
Eva Lois,
Tan Ai Ling
Publication year - 2019
Publication title -
australian and new zealand journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.734
H-Index - 65
eISSN - 1479-828X
pISSN - 0004-8666
DOI - 10.1111/ajo.12964
Subject(s) - medicine , genetic counseling , referral , genetic testing , brca mutation , ovarian cancer , gynecologic oncology , serous fluid , oncology , serous carcinoma , germline , gynecology , ovarian carcinoma , cancer , family medicine , genetics , biology , gene
Background Germline BRCA 1/2 mutations account for approximately 15% of invasive ovarian carcinomas. Referral of all women with non‐mucinous epithelial tubo‐ovarian and peritoneal cancer, especially high‐grade serous carcinoma ( HGSC ) to genetic services for genetic counselling and subsequent BRCA testing, has become standard of care in many countries. Publicly funded BRCA testing was restricted to women ≤70 years old with HGSC in New Zealand for most of our study period. Referral rates of women with HGSC for BRCA mutation testing in New Zealand have not previously been reported. Aims To determine the proportion of eligible patients with tubo‐ovarian or peritoneal HGSC referred to Auckland Gynaecologic Oncology Centre who were referred for genetic counselling. To determine the number of patients who underwent BRCA 1/2 genetic testing and the rate of germline BRCA mutations. Methods Eligible cases were identified from Auckland Gynaecologic Oncology multidisciplinary meetings database from 1 January 2012 to 31 December 2014. Genetic referrals sent were checked against the genetic services database to ensure that referrals were received. Genetic counselling clinic attendance, uptake and results of genetic testing were also collected. Results One hundred and four eligible patients were identified with 58 patients referred. Referral rates increased from 37.5% in 2012 to 64.3% in 2014. Of the 58 patients referred, 53 attended genetic counselling, and 49 underwent BRCA mutation testing, of whom 10 (20.4%) tested positive for a germline BRCA mutation. Conclusion Overall, 55.8% of eligible patients were referred for genetic testing; however, referral rates increased with time. This BRCA mutation‐positive rate is comparable with current international data.