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 % |