Disparities in current and future childhood and newborn carrier identification

Area of Science:

• Genetics
• Pediatrics
• Public Health

Background:

• International guidelines discourage childhood carrier testing for autosomal recessive conditions like sickle cell disease (SCD) and cystic fibrosis (CF) to protect children's autonomy and prevent psychosocial harm.
• Newborn screening (NBS) programs in the UK and internationally may incidentally identify carrier status for SCD and CF, creating disparities in knowledge between siblings.
• Variations in NBS technologies lead to inconsistent identification of CF and SCD carriers, complicating childhood testing policies.

Purpose of the Study:

• To discuss the implications of incidental carrier identification through NBS for children and families.
• To highlight the conflicting empirical evidence regarding the psychosocial impact of childhood carrier testing.
• To emphasize the need for further qualitative and longitudinal research on the effects of carrier status disclosure on children's well-being.

Main Methods:

• This is a discussion paper, not an empirical study.
• It synthesizes existing literature and expert opinion on childhood carrier testing.
• It calls for future research involving qualitative and longitudinal studies with children.

Main Results:

• Current research on the psychosocial impact of childhood carrier testing is conflicting and inconclusive.
• Incidental carrier identification via NBS presents unique challenges for parents and children.
• There is a need to understand the role of parental disclosure in children's adaptation to carrier status.

Conclusions:

• Further qualitative and longitudinal research is crucial to understand the psychosocial impact of carrier testing on children.
• Professionals should provide support to minimize potential harms associated with carrier identification following NBS.
• Genetic counselors should support non-genetics specialists in discussing carrier results with children and families.