Table 3.
Summary of other relevant responses from the diagnostic laboratory survey by six representativesa.
| • Frequency of VUS review |
|---|
| - Every 1 or 2 years (2/6) |
| - No regular review (4/6) |
| • Reasons limiting regular VUS review |
| - Resources (6/6) |
| - Inability to track previous results for variants not included in reports (3/6) |
| - Not considered clinically relevant unless FCCs contact for more information (3/6) |
| • How laboratories report to become aware of new Expert Panel reclassifications |
| - By being members of ClinGen (2) |
| - No single established process (4) |
| • Actions taken after laboratories become aware of a new Expert Panel reclassification |
| - Review and/or discuss the information provided (3) |
| - Reclassify the variant (1) |
| - Inform the relevant FCC (1) |
| • Routine notification of reclassifications to the FCCs |
| - Yes for variant upgrades (6/6) |
| - Yes for variant downgrades (5/6) |
| • Existence of a documented process in place by which VUS reclassifications are notified to the FCCs |
| - Yes (5/6) |
| • Prioritisation of VUS regular review if there was more funding |
| - Yes (5/6) |
FCC Familial cancer centre, VUS Variant of uncertain significance.
aResponses without the denominator noted (“/”) refer to open-ended questions.