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Table 4 Medical geneticists questionnaire results (n = 31)

From: Understanding of BRCA VUS genetic results by breast cancer specialists

  Number Percentage
Age category   
 30–39 5 16.1 %
 40–49 16 51.6 %
 50–59 8 25.8 %
 60+ 2 6.5 %
Length of time working in genetics   
 < 5 years 1 3.1 %
 5–10 years 8 25.8 %
 >10 years 22 71.0 %
 Patient contact   
Do you discuss test results directly with patients?   
 Never 2 6.5 %
 Rarely (1–2/yr) 0 0 %
 Sometimes (1–2/month) 4 12.9 %
 Regularly (≥1 per week) 25 80.6 %
Do patients see a copy of the BRCA testing report?   
 Yes 8 25.8 %
 Sometimes 11 35.5 %
 No 3 9.7 %
 Not sure/missing 9 29.0 %
Acceptance of BRCA test requestsa Yes No
Clinicians in genetics clinic 26 (83.9 %) 0 (0 %)
Clinicians in oncology clinic 3 (9.7 %) 19 (61.3 %)
Primary care/family doctor 1 (3.2 %) 23 (74.2 %)
Allied professionals with genetics qualification 23 (74.2 %) 2 (6.5 %)
Patients 1 (3.2 %) 22 (71.0 %)
Lab capacity and reporting Most common response No. (%)
No. of patient samples tested per year 100–500 17 (54.8 %)
Proportion reporting clearly pathogenic mutation 10–20 % 17 (54.8 %)
Proportion reporting a VUS 1–10 % 12 (38.7 %)
Length of test time (blood draw- report) 4–8 weeks 13 (41.0 %)
Methods to clarify significance of a VUS   
 Colleague discussion 23 74.2 %
 Information from other lab/clinical expert 16 51.6 %
 Co-segregation (additional blood from family) 23 74.2 %
 Literature search 20 64.5 %
 Mutation database search 15 48.4 %
 Google search 9 29.0 %
 Splicing prediction software 7 22.6 %
 Conservation database 7 22.6 %
 Tumour pathology report 7 22.6 %
 Tumour DNA 5 16.1 %
 Other: RNA studies 2 6.5 %
  1. aNumbers exceed 100 % as multiple responses allowed