Paediatric genomic testing: Navigating genomic reports for the general paediatrician

Area of Science:

• Genetics
• Pediatrics
• Rare Diseases

Background:

• Monogenic rare disorders significantly impact pediatric morbidity and mortality.
• Genomic technologies offer diagnostic yields up to 50% in pediatric cohorts, increasing genetic test utilization.
• Interpreting complex genomic results poses challenges for pediatricians and can cause patient/family anxiety.

Purpose of the Study:

• To highlight the implications of genomic testing results for pediatricians and families.
• To emphasize the critical role of pediatricians' genetic literacy in patient care.
• To provide practical guidance through hypothetical case vignettes.

Main Methods:

• Presentation of four hypothetical case vignettes involving genomic testing in pediatric patients.
• Discussion of potential genomic test results and their clinical implications.
• Identification of key terms for pediatricians.

Main Results:

• Genomic testing can identify the genetic cause of rare disorders, benefiting patients and families.
• Interpreting and communicating complex genomic findings requires specialized knowledge.
• Paediatricians need enhanced genetic literacy to manage patient expectations and guide care.

Conclusions:

• Genomic testing is increasingly vital in pediatric rare disease diagnosis.
• Improved genetic education for pediatricians is essential for effective interpretation and communication of results.
• Addressing the complexities of genomic results supports better patient and family outcomes.