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The clinical impact of chromosomal microarray on paediatric care in Hong Kong
Victoria Q Tao1, Kelvin Y K Chan2, Yoyo W Y Chu1
1Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Insights
Chromosomal microarray (CMA) testing in Hong Kong identified clinically actionable genetic findings in 8.6% of children with developmental disorders. This diagnostic yield supports CMA
Area of Science:
- Genomic Medicine
- Clinical Genetics
- Paediatric Diagnostics
Background:
- Intellectual disability (ID), developmental delay (DD), autism spectrum disorders (ASD), and multiple congenital anomalies (MCAs) affect numerous children.
- Accurate genetic diagnosis is crucial for effective management and genetic counseling.
- Chromosomal microarray (CMA) is a powerful tool for identifying chromosomal abnormalities.
Purpose of the Study:
- To assess the clinical impact and diagnostic yield of CMA in a Hong Kong paediatric population.
- To determine the
Main Methods:
- Oligonucleotide array-based CMA was performed on 327 children with ID/DD, ASD, and/or MCAs.
- Medical records were reviewed to identify pathogenic/likely pathogenic findings and assess their clinical actionability.
- Evidence-based criteria were used to evaluate the significance of CMA results.
Main Results:
- A diagnostic yield of 11% for pathogenic/likely pathogenic findings was observed.
- Clinically actionable results were obtained in 8.6% of cases, significantly impacting management.
- CMA results led to specialist referrals, further diagnostic testing, surveillance, and treatment modifications.
Conclusions:
- CMA provides a significant diagnostic yield for clinically actionable results in children with developmental disorders.
- The diagnostic yield of clinically actionable results should be used to evaluate genomic testing strategies.
- This approach integrates evidence-based medicine into genomic medicine practice.
Objective:
To evaluate the clinical impact of chromosomal microarray (CMA) on the management of paediatric patients in Hong Kong.
Methods:
We performed NimbleGen 135k oligonucleotide array on 327 children with intellectual disability (ID)/developmental delay (DD), autism spectrum disorders (ASD), and/or multiple congenital anomalies (MCAs) in a university-affiliated paediatric unit from January 2011 to May 2013. The medical records of patients were reviewed in September 2013, focusing on the pathogenic/likely pathogenic CMA findings and their "clinical actionability" based on established criteria.
Results:
Thirty-seven patients were reported to have pathogenic/likely pathogenic results, while 40 had findings of unknown significance. This gives a detection rate of 11% for clinically significant (pathogenic/likely pathogenic) findings. The significant findings have prompted clinical actions in 28 out of 37 patients (75.7%), while the findings with unknown significance have led to further management recommendation in only 1 patient (p < 0.001). Nineteen out of the 28 management recommendations are "evidence-based" on either practice guidelines endorsed by a professional society (n = 9, Level 1) or peer-reviewed publications making medical management recommendation (n = 10, Level 2). CMA results impact medical management by precipitating referral to a specialist (n = 24); diagnostic testing (n = 25), surveillance of complications (n = 19), interventional procedure (n = 7), medication (n = 15) or lifestyle modification (n = 12).
Conclusion:
The application of CMA in children with ID/DD, ASD, and/or MCAs in Hong Kong results in a diagnostic yield of ∼ 11% for pathogenic/likely pathogenic results. Importantly the yield for clinically actionable results is 8.6%. We advocate using diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility. Furthermore, it incorporates evidence-based medicine into the practice of genomic medicine. The same framework can be applied to other genomic testing strategies enabled by next-generation sequencing.
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