Presenting Author: Sarah Siddiqui, MS CGC
Take home points:
- Implementing cascade MGPT increases the overall positive rate, and approximately half of AFPVs are directly tied to medical management recommendations.
- The majority of relatives with AFPVs impacting medical management had consistent phenotype or met criteria for the AFPV demonstrating the benefit of comprehensive family history collection and pre-test counseling.
- However, nearly 25% of relatives had an AFPV without suggestive history that would impact their medical management.