The New Zealand medical journal · 2019
Patterns of referral and uptake of BReast CAncer (BRCA) gene testing of eligible women with ovarian cancer in New Zealand.
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Fraser Katherine, Tan Ai Ling, Innes Carrie, Stephens Rosalie, Tristram Amanda, Petrich Simone, Lintott Caroline, Sykes Peter H, Gamet Kimberley, Christian Alice, Simcock Bryony
Аннотация
AIMS: To determine the proportion of eligible patients with high-grade serous carcinoma of the ovary, fallopian tube or peritoneum discussed at gynaecological oncology multidisciplinary meetings (MDMs) in New Zealand and subsequently referred for genetic counselling and BRCA pathogenic variant testing.
METHODS: Eligible cases were identified from Auckland, Wellington, Christchurch and Dunedin gynaecologic oncology MDM databases between 1 January 2015 to 31 December 2016. Patients who met the eligibility criteria for genetics referral were identified, and cross-referenced against genetic services databases to ascertain the rates of referrals received, the numbers attending appointments, genetic testing offered and range of results.
RESULTS: During the two-year period, 205 patients were eligible for referral. Of these, 143 (70%) patients were referred for genetic counselling with 128 (90%) of this group recommended for BRCA pathogenic variant testing. Of the 126 who undertook the test, results were available for 120 (95%). Nineteen patients (16%) tested positive for a germline BRCA pathogenic variant.
CONCLUSIONS: The New Zealand rate of referral to genetic counselling for women with high-grade serous cancer, (HGSC), of the ovary, fallopian tube or peritoneum diagnosed between 2015-2016 is encouraging when compared with others internationally. The rate of BRCA positive pathogenic variants is comparable to international data.
METHODS: Eligible cases were identified from Auckland, Wellington, Christchurch and Dunedin gynaecologic oncology MDM databases between 1 January 2015 to 31 December 2016. Patients who met the eligibility criteria for genetics referral were identified, and cross-referenced against genetic services databases to ascertain the rates of referrals received, the numbers attending appointments, genetic testing offered and range of results.
RESULTS: During the two-year period, 205 patients were eligible for referral. Of these, 143 (70%) patients were referred for genetic counselling with 128 (90%) of this group recommended for BRCA pathogenic variant testing. Of the 126 who undertook the test, results were available for 120 (95%). Nineteen patients (16%) tested positive for a germline BRCA pathogenic variant.
CONCLUSIONS: The New Zealand rate of referral to genetic counselling for women with high-grade serous cancer, (HGSC), of the ovary, fallopian tube or peritoneum diagnosed between 2015-2016 is encouraging when compared with others internationally. The rate of BRCA positive pathogenic variants is comparable to international data.