Journal
HUMAN GENOMICS
Volume 9, Issue -, Pages -Publisher
BMC
DOI: 10.1186/s40246-015-0031-5
Keywords
Next-generation sequencing; Whole exome sequencing; Clinical applications; Mendelian diseases
Categories
Funding
- Nurturing Clinician Scientist Scheme, Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Graduate Medical School, Singapore
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Over the past decade, next-generation sequencing (NGS) has led to an exponential increase in our understanding of the genetic basis of Mendelian diseases. NGS allows for the analysis of multiple regions of the genome in one single reaction and has been shown to be a cost-effective and efficient tool in investigating patients with Mendelian diseases. More recently, NGS has been successfully deployed in the clinics, with a reported diagnostic yield of similar to 25 %. However, recommendations on clinical implementation of NGS are still evolving with numerous key challenges that impede the widespread use of genetics in everyday medicine. These challenges include when to order, on whom to order, what type of test to order, and how to interpret and communicate the results, including incidental findings, to the patient and family. In this review, we discuss these challenges and suggest guidelines on implementing NGS in the routine clinical workflow.
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