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.

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.

An evaluation of patient reported outcomes following breast reconstruction utilizing Breast Q.

INTRODUCTION: Breast Q questionnaire measures patient's perceptions following breast reconstruction using quality of life and satisfaction. This study assessed patient reported outcomes following mastectomy and reconstruction utilizing Breast Q. METHODS: All consecutive Letterkenny Hospital patients undergoing mastectomy and breast reconstruction between August 2008 and February 2011 were invited to complete Breast Q evaluation of their care. Collected data included: age; presenting complaint, height, weight; type of operation. RUMM 2020 program evaluated satisfaction where 0 is very dissatisfied to 100 very satisfied. RESULTS: 30/33 (91%) patients completed Breast Q; mean age 43 ± 11 (range 29-64); mean BMI 27.3 ± 5 (range 21.7-43.1). 27 patients were symptomatic, and 3 were image detected. 23 had a latissimus dorsi reconstruction, 11 of these with implant augmentation, 5 had a DIEP and 2 implant only reconstruction. The mean satisfaction score of 79.7 indicating good to excellent results. Post reconstructive outcomes were not statistically different from pre-operative perceptions in key areas such as satisfaction with breasts, psychosocial and sexual well-being. CONCLUSION: This study identified outcomes as good as if not superior to international averages with preservation of satisfaction with breast and psychosocial well-being. Breast Q could help form a template for national benchmarks in patients undergoing mastectomy and reconstruction.