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Genomics Implementation

More Detailed Information on Key Tier 1 Applications - Familial Hypercholesterolemia

Phase 2 FH Approaches

Cascade Screening

States that have successfully completed Phase 1 implementation can build upon their established partnerships with providers and payers by facilitating FH cascade screening pilot projects.  Cascade screening is an active process to find relatives of persons affected with certain genetic conditions at a pre-symptomatic stage because interventions exist that can save lives.  FH Phase 2 efforts can be designed using a population- based, state- wide approach or could be initially based out of one large payer/provider network.  There are many appealing features of a clinical/public health partnership approach to cascade screening including the ability to directly identify and provide interventions to people at risk for FH who are not even aware of their heightened risk.  However, Phase 2 efforts – even more passive designs – are complex and require more resources, expertise, and partnership development than most states are ready for at this time.  Because families can no longer be assumed to cluster within towns, cities or even states, cascade screening will require coordination across states, further complicating the challenges.  However, the potential rewards for trail blazing states in a position to successfully conduct cascade screening are significant.

States may also consider educating providers and patients about the newly formed CASCADE FH registry, a patient registry recently launched by the FH Foundation, a private, patient centered organization.

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