Parents' experiences with requesting carrier testing for their unaffected children

Area of Science:

• Medical Genetics
• Pediatric Health
• Genetic Counseling

Background:

• International guidelines advise against pediatric genetic carrier testing until adulthood.
• Carrier testing in children occurs, especially for siblings of affected individuals.
• Limited research exists on parental experiences and the impact of pediatric carrier status.

Purpose of the Study:

• To explore parents' experiences with genetic carrier testing in children.
• To understand the impact of knowing a child's carrier status.
• To investigate communication of carrier information to children.

Main Methods:

• Conducted semistructured interviews with 33 parents of children with cystic fibrosis, hemophilia, or Duchenne muscular dystrophy.
• Utilized inductive content analysis for data interpretation.

Main Results:

• Identified eight distinct pathways to carrier testing.
• 67% of parents received carrier results for at least one child.
• Parents expressed satisfaction with receiving carrier status results, regardless of outcome.

Conclusions:

• Parental practices regarding pediatric genetic carrier testing vary significantly from current guidelines.
• Evidence suggests a need to re-evaluate and potentially revise existing recommendations.
• Parental experiences highlight the complexities and emotional aspects of pediatric genetic carrier status.