How do parents decide on genetic testing in pediatrics? A systematic review

Area of Science:

• Pediatric Genetics
• Medical Decision-Making

Background:

• Understanding parental decision-making is crucial for genetic testing in children.
• Existing models need refinement to encompass pediatric genetic testing nuances.

Purpose of the Study:

• Identify factors influencing parental decisions for pediatric diagnostic genetic testing (DT) and predictive genetic testing (PT).
• Develop a conceptual decision-making model for pediatric genetic testing.
• Derive implications for genetic counseling, research, and ethics.

Main Methods:

• Systematic review of publications from 2000-2023.
• Searched PubMed, PsychInfo, Web of Science, and reference lists.
• Categorized extracted factors using existing decision-making models.

Main Results:

• 56 studies met inclusion criteria, analyzing factors influencing parental decisions for DT and PT.
• Key factors identified: benefits/hopes, worries/concerns, values/beliefs, individual circumstances, and emotional states.
• Differentiated factors for diagnostic vs. predictive testing and disclosure of additional findings.

Conclusions:

• Expanded existing decision models for family genome sequencing to pediatric genetic testing.
• Integrated individual circumstances and emotional states into the model.
• Highlighted need for research on emotional states, DT vs. PT differences, result disclosure, and dyadic predictors.