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Genome-wide sequencing technologies: A primer for paediatricians
Robin Z Hayeems1,2, Kym M Boycott3,4,5
1Child Health Evaluative Sciences Program, Hospital for Sick Children Research Institute, Toronto, Ontario.
Paediatrics & Child Health
|May 18, 2018
Summary
Genome-wide sequencing offers a comprehensive approach to pediatric genetic diagnosis, surpassing traditional methods. However, technical, ethical, and access challenges must be addressed before widespread adoption in pediatrics.
Area of Science:
- Genetics
- Pediatric Medicine
- Genomic Technologies
Background:
- Genetic testing is a long-standing practice in pediatrics.
- The range of genetic tests for children with suspected genetic conditions has significantly increased.
- Genome-wide sequencing represents a major advancement in diagnostic capabilities.
Purpose of the Study:
- To review the elements of genome-wide sequencing for pediatric diagnostics.
- To discuss the delivery considerations for implementing these advanced technologies.
- To prepare pediatricians for the integration of genome-based diagnostics.
Main Methods:
- Review of current genome-wide sequencing technologies (whole-exome and whole-genome sequencing).
- Analysis of the advantages of comprehensive genomic approaches over serial testing.
- Identification of technical, ethical, and access-related complexities.
Main Results:
- Genome-wide sequencing provides a more complete genetic diagnosis in a single assay.
- These methods demonstrate superior performance compared to the combined results of multiple individual tests.
- Significant challenges remain for mainstream implementation in pediatric care.
Conclusions:
- Genome-wide sequencing holds immense promise for pediatric genetic diagnosis.
- Addressing technical, ethical, and access issues is crucial for successful integration.
- Paediatricians need to be prepared for the transition to these advanced diagnostic tools.
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