Table 1.
• How FCCs report to become aware of VUS reclassifications |
---|
- Laboratory/s routinely inform them of VUS upgrades (VUS to P/LP) for reports of existing patients (4/9) |
- Laboratory/s routinely inform them of VUS downgrades (VUS to B/LB) for reports of existing patients (3/9) |
- There is a diagnostic report for a new patient with the same variant (3/9) |
- Regular review of variants in internal clinical database (2/9) |
- Other: review with the laboratory when patients contacts for more information (3), referral of a relative (3), local and/or national MDT meetings (1) |
• Clinical actions taken by FCCs after VUS reclassifications |
- VUS upgrades: Request re-issue of a report for patients with an alternative pre-existing classification (9/9) |
- VUS downgrades: Request re-issue of a report for patients with an alternative pre-existing classification (6/9) |
• Reasons for not updating internal clinical database |
- Not being aware of a VUS reclassification (8/9) |
- Lack of resources (3/9) |
- Not clinically necessary (1/9) |
B/LB Benign/Likely benign, FCC Familial cancer centre, MDT Multidisciplinary team, P/LP Pathogenic/Likely pathogenic, VUS Variant of uncertain significance.
aResponses without the denominator noted (“/”) refer to open-ended questions