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Paediatric genomic testing: Navigating genomic reports for the general paediatrician
Margit Shah1,2,3, Arthavan Selvanathan4, Gareth Baynam5,6
1Centre for Clinical Genetics, Sydney Children's Hospital, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Insights
Genomic testing aids rare disease diagnosis in children, but requires pediatricians to understand complex genetic results. Enhanced genetic literacy is crucial for effective patient counseling and care.
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.
Abstract:
Monogenic rare disorders contribute significantly to paediatric morbidity and mortality, and elucidation of the underlying genetic cause may have benefits for patients, families and clinicians. Advances in genomic technology have enabled diagnostic yields of up to 50% in some paediatric cohorts. This has led to an increase in the uptake of genetic testing across paediatric disciplines. This can place an increased burden on paediatricians, who may now be responsible for interpreting and explaining test results to patients. However, genomic results can be complex, and sometimes inconclusive for the ordering paediatrician. Results may also cause uncertainty and anxiety for patients and their families. The paediatrician's genetic literacy and knowledge of genetic principles are therefore critical to inform discussions with families and guide ongoing patient care. Here, we present four hypothetical case vignettes where genomic testing is undertaken, and discuss possible results and their implications for paediatricians and families. We also provide a list of key terms for paediatricians.
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