Genetic testing for BRCA founder mutations Cancer Malignant neoplasm of breast
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: This is a healthy volunteer trial for Ashkenazi Jewish men and women. Inclusion criteria include: 1. Individuals over 18 years 2. Ashkenazi Jewish ethnicity (based on self-reported history of 4 Ashkenazi Jewish grandparents)
Exclusion criteria
Exclusion criteria: 1. Known BRCA mutation in an individual 2. First degree relative (FDR) of an individual with known BRCA mutation 3. Individuals who have already undergone BRCA founder mutation (FM) testing
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Number of founder mutations (FM) detected, assessed by the genetic test result 2. Acceptability 2.1. Perception, attitudes towards BRCA1/2 testing: benefits, risks, limitations; cultural/religious influences; interest and intention, assessed by the baseline questionnaire and post-counselling assessment questionnaire 2.2. Satisfaction with counselling: Genetic Counselling Satisfaction Scale (GCSS), assessed as part of post-counselling assessment questionnaire and exit questionnaire (for those declining testing after counselling) 2.3. Uptake of testing 2.4. Reasons for declining testing, assessed by the exit questionnaire (for those declining testing after counselling) 3. Psychological impact, assessed by the baseline questionnaire, Follow-up Questionnaires 1, 2 and 3. These included the following: 3.1. Hospital Anxiety and Depression Scale (HADS): General well being, depression and anxiety 3.2. Short Form 12 (SF12): Psychological Quality of life (QoL) tool 3.3. Health Anxiety Inventory (HAI) 3.4. Multidimensional Impact of Cancer Risk Assessment (MICRA). This measure is used in Follow-up Questionnaires 1, 2 and 3 to assess the impact of test result 4. Uptake of screening and preventive strategies. Behavioural outcomes assessed by the baseline questionnaire, Follow-up Questionnaires 2 and 3. They included the following assessments: 4.1. Lifestyle behaviours (diet, exercise, alcohol, vitamins, etc.) 4.2. Cancer screening behaviours 4.3. Prophylactic surgery and chemoprevention 5. Health economics will be assessed by the baseline questionnaire, Follow-up Questionnaires 1, 2 and 3. This will involve within trial analysis of the counselling, screening and preventive strategies undertaken as well as modelling to estimate resource imp | — |
Secondary
| Measure | Time frame |
|---|---|
| No secondary outcome measures | — |
Countries
England, United Kingdom