Societal implications of expanded universal carrier screening: a scoping review

Area of Science:

• Genetics
• Public Health
• Sociology

Background:

• Carrier screening historically relied on ancestry-based methods.
• Technological advancements enable expanded universal carrier screening (EUCS).

Purpose of the Study:

• To map the potential societal implications of EUCS.
• To synthesize theoretical and empirical evidence on EUCS impacts.

Main Methods:

• Scoping review methodology.
• CoCites search strategy based on five query articles.
• Inclusion of 40 relevant articles.

Main Results:

• Identified three main implication themes: unwanted medicalization, stigmatization/discrimination, and equitable access challenges.
• Noted potential benefits like reduced ethnic stigma and increased equity.
• Highlighted risks including reinforced disability stigma and societal pressure to screen.

Conclusions:

• EUCS presents both potential positive and negative societal implications, largely theoretical.
• Empirical evidence on these implications is scarce, particularly for at-risk groups.
• Further research in EUCS pilots is crucial to address potential challenges during implementation.