Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature

Area of Science:

• Genetics and Public Health
• Health Services Research

Background:

• Cascade screening aims to identify and manage individuals at risk for hereditary conditions.
• Effective implementation requires understanding interventions, facilitators, barriers, and policy landscapes.

Purpose of the Study:

• To conduct a scoping review of cascade screening interventions.
• To identify facilitators, barriers, policy considerations, and research needs for cascade screening.

Main Methods:

• Scoping review of peer-reviewed literature from 1990-2017.
• Analysis of 122 studies and 45 state statutes/regulations on genetic information.

Main Results:

• No standardized best practices for cascade screening were identified.
• Direct provider contact with relatives increased screening uptake but may be limited by state policies.
• Suboptimal communication and geographic barriers are major challenges.

Conclusions:

• Rigorous intervention studies are needed for cascade screening in diverse US populations.
• Future research must consider varying state policy contexts and address identified barriers.