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. 2023 Apr;22(2):135-149.
doi: 10.1007/s10689-022-00313-0. Epub 2022 Aug 27.

A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland

Terri Patricia McVeigh  1   2 , Karl J Sweeney  3 , Donal J Brennan  4   5 , Una M McVeigh  6 , Simon Ward  7 , Ann Strydom  8 , Sheila Seal  8 , Katherine Astbury  3 , Paul Donnellan  3 , Joanne Higgins  3 , Maccon Keane  3 , Michael J Kerin  3   6 , Carmel Malone  3   6 , Pauline McGough  3 , Ray McLaughlin  3 , Michael O'Leary  3 , Margaret Rushe  3 , Michael Kevin Barry  9 , Geraldine MacGregor  10 , Michael Sugrue  10 , Ala Yousif  11 , Dhafir Al-Azawi  12 , Eileen Berkeley  12 , Terence J Boyle  12 , Elizabeth M Connolly  12 , Carmel Nolan  12 , Elaine Richardson  12 , Claire Giffney  13 , Samantha B Doyle  5 , Sheila Broderick  4 , William Boyd  4 , Ruaidhri McVey  4 , Thomas Walsh  4 , Michael Farrell  14 , David J Gallagher  12   14 , Nazneen Rahman  8 , Angela J George  7   15
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A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland

Terri Patricia McVeigh et al. Fam Cancer. 2023 Apr.

Abstract

In the Republic of Ireland (ROI), BRCA1/BRCA2 genetic testing has been traditionally undertaken in eligible individuals, after pre-test counselling by a Clinical Geneticist/Genetic Counsellor. Clinical Genetics services in ROI are poorly resourced, with routine waiting times for appointments at the time of this pilot often extending beyond a year. The consequent prolonged waiting times are unacceptable where therapeutic decision-making depends on the patient's BRCA status. "Mainstreaming" BRCA1/BRCA2 testing through routine oncology/surgical clinics has been implemented successfully in other centres in the UK and internationally. We aimed to pilot this pathway in three Irish tertiary centres. A service evaluation project was undertaken over a 6-month period between January and July 2017. Eligible patients, fulfilling pathology and age-based inclusion criteria defined by TGL clinical, were identified, and offered constitutional BRCA1/BRCA2 testing after pre-test counselling by treating clinicians. Tests were undertaken by TGL Clinical. Results were returned to clinicians by secure email. Onward referrals of patients with uncertain/pathogenic results, or suspicious family histories, to Clinical Genetics were made by the treating team. Surveys assessing patient and clinician satisfaction were sent to participating clinicians and a sample of participating patients. Data was collected with respect to diagnostic yield, turnaround time, onward referral rates, and patient and clinician feedback. A total of 101 patients underwent diagnostic germline BRCA1/BRCA2 tests through this pathway. Pathogenic variants were identified in 12 patients (12%). All patients in whom variants were identified were appropriately referred to Clinical Genetics. At least 12 additional patients with uninformative BRCA1/BRCA2 tests were also referred for formal assessment by Clinical Geneticist or Genetic Counsellor. Issues were noted in terms of time pressures and communication of results to patients. Results from a representative sample of participants completing the satisfaction survey indicated that the pathway was acceptable to patients and clinicians. Mainstreaming of constitutional BRCA1/BRCA2 testing guided by age- and pathology-based criteria is potentially feasible for patients with breast cancer as well as patients with ovarian cancer in Ireland.

Keywords: BRCA1; BRCA2; Breast cancer; Cancer genetics; Cancer genomics; Hereditary Breast and Ovarian cancer; King syndrome; Mainstreaming; Oncogenetics; Ovarian cancer.

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