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Familial Cancer
Published in: Familial Cancer 2/2023

27-08-2022 | Breast Cancer | Original Article

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

Authors: Terri Patricia McVeigh, Karl J. Sweeney, Donal J. Brennan, Una M. McVeigh, Simon Ward, Ann Strydom, Sheila Seal, Katherine Astbury, Paul Donnellan, Joanne Higgins, Maccon Keane, Michael J. Kerin, Carmel Malone, Pauline McGough, Ray McLaughlin, Michael O’Leary, Margaret Rushe, Michael Kevin Barry, Geraldine MacGregor, Michael Sugrue, Ala Yousif, Dhafir Al-Azawi, Eileen Berkeley, Terence J. Boyle, Elizabeth M. Connolly, Carmel Nolan, Elaine Richardson, Claire Giffney, Samantha B. Doyle, Sheila Broderick, William Boyd, Ruaidhri McVey, Thomas Walsh, Michael Farrell, David J. Gallagher, Nazneen Rahman, Angela J. George

Published in: Familial Cancer | Issue 2/2023

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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.
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Metadata
Title
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
Authors
Terri Patricia McVeigh
Karl J. Sweeney
Donal J. Brennan
Una M. McVeigh
Simon Ward
Ann Strydom
Sheila Seal
Katherine Astbury
Paul Donnellan
Joanne Higgins
Maccon Keane
Michael J. Kerin
Carmel Malone
Pauline McGough
Ray McLaughlin
Michael O’Leary
Margaret Rushe
Michael Kevin Barry
Geraldine MacGregor
Michael Sugrue
Ala Yousif
Dhafir Al-Azawi
Eileen Berkeley
Terence J. Boyle
Elizabeth M. Connolly
Carmel Nolan
Elaine Richardson
Claire Giffney
Samantha B. Doyle
Sheila Broderick
William Boyd
Ruaidhri McVey
Thomas Walsh
Michael Farrell
David J. Gallagher
Nazneen Rahman
Angela J. George
Publication date
27-08-2022
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 2/2023
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-022-00313-0

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