An approach to pediatric exome and genome sequencing

Area of Science:

• Genetics
• Pediatrics
• Clinical Diagnostics

Background:

• Exome and genome sequencing are emerging clinical tools for diagnosing genetic conditions.
• Standardized protocols are needed for patient selection, testing, and results return.

Purpose of the Study:

• To outline critical steps for utilizing exome and genome sequencing in clinical practice.
• To guide pediatricians in shared decision-making with parents regarding genetic testing.

Main Methods:

• Review of current protocols and best practices for clinical genomic sequencing.
• Emphasis on patient selection, laboratory choice, and informed consent.

Main Results:

• Well-selected patients have up to a 30% likelihood of identifying a causative genetic mutation.
• Shared decision-making is crucial for parents to understand testing uncertainties and align with their values.
• Discussion of treatment possibilities and family recurrence risks is paramount upon result discovery.

Conclusions:

• Pediatricians must decide whether to manage, refer for, or initiate genomic testing concurrently with referral.
• Understanding genomic testing basics empowers pediatricians to support families throughout the diagnostic journey.