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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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Targeted next-generation sequencing in monogenic dyslipidemias
Robert A Hegele1, Matthew R Ban, Henian Cao
1Robarts Research Institute and Department of Medicine, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
Current Opinion in Lipidology
|February 19, 2015
Summary
Next-generation sequencing (NGS) offers a powerful tool for diagnosing genetic causes of dyslipidemia. As costs decrease, NGS is becoming more accessible for clinical use in managing lipid disorders.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Dyslipidemia encompasses a range of lipid level abnormalities.
- Monogenic dyslipidemias have well-identified causative genes.
- Traditional biochemical methods have limitations in diagnosing certain dyslipidemias.
Purpose of the Study:
- To assess the clinical applicability of next-generation sequencing (NGS) for diagnosing and managing dyslipidemia.
- To review the current state of genetic testing for dyslipidemias.
Main Methods:
- Targeted next-generation sequencing (NGS) panels for dyslipidemia genes.
- Genome-wide NGS with focused analysis on relevant genes.
- Review of recent NGS experimental data and clinical diagnostic algorithms.
Main Results:
- Most genes responsible for monogenic dyslipidemias are identified.
- Targeted NGS panels or genome-wide NGS can diagnose monogenic dyslipidemias.
- DNA-based diagnosis is integrated into clinical practice for familial hypercholesterolemia and chylomicronemia.
Conclusions:
- Clinical next-generation sequencing (NGS) for dyslipidemia is increasingly available and affordable.
- The potential benefits of NGS in dyslipidemia management warrant larger-scale evaluation.
