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Paediatric genomics: diagnosing rare disease in children
Caroline F Wright1, David R FitzPatrick2, Helen V Firth3,4
1University of Exeter Medical School, Institute of Biomedical and Clinical Science, Royal Devon and Exeter Hospital, Barrack Road, Exeter EX2 5DW, UK.
Nature Reviews. Genetics
|February 6, 2018
Summary
Genomic technologies like whole-exome and whole-genome sequencing are improving molecular diagnoses for rare pediatric diseases. This advances prognosis, management, and research for affected children and families.
Area of Science:
- Genetics
- Paediatric Medicine
- Genomic Medicine
Background:
- Most rare diseases impact children, often stemming from genetic factors.
- Achieving a precise molecular diagnosis for these conditions remains a significant challenge.
- Paediatric genomics is a developing field addressing diagnostic difficulties.
Purpose of the Study:
- To highlight the role of advanced genomic technologies in diagnosing rare paediatric diseases.
- To discuss the impact of improved genetic diagnoses on patient care and research.
Main Methods:
- Incorporation of next-generation sequencing (NGS), including whole-exome sequencing (WES) and whole-genome sequencing (WGS).
- Integration of these technologies into clinical and research settings.
- Leveraging population genetic variation data.
Main Results:
- Increased identification rates of genes responsible for rare paediatric conditions.
- Enhanced diagnostic capabilities for rare paediatric diseases.
- Improved understanding of the genetic underpinnings of these diseases.
Conclusions:
- Genomic approaches are crucial for advancing the diagnosis and understanding of rare paediatric diseases.
- Accurate genetic diagnoses lead to better patient prognosis, management, and targeted research.
- Paediatric genomics offers significant benefits for affected children and their families.
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