More Detailed Information on Key Tier 1 Applications - Hereditary Breast and Ovarian Cancer (HBOC)
Whereas Phase 1 approaches generally address identifying individuals (index cases) who could benefit from Tier1 genomic applications, in Phase 2, states develop approaches to identify the at-risk family members of index cases who can benefit from evidence-based preventive strategies through cascade screening. States that have successfully completed Phase 1 implementation can build upon their established partnerships with providers and payers by facilitating HBOC 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. HBOC 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 HBOC 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 great.