Interpretation of Clinical Next-Generation Sequencing Data: A Hurdle to Jump Over

Next-generation sequencing (NGS) has been revolutionary for the clinical diagnostics field. With its high throughput sequencing power and plummeting cost, it has been increasingly used in clinical labs. Instead of testing the candidate genes one at a time by Sanger sequencing, now a lab can test a group of candidate genes at the same time using the NGS method. For example, many clinical labs now offer epilepsy gene panel tests that usually sequence 100-500 genes that are known to be causal or have associations with different kinds of epilepsies. Gene panel tests are also offered for genetic heterogeneous diseases like neurodevelopmental disease, cardiomyopathy, immunodeficiency disease, etc. This approach dramatically increases diagnostic efficiency and helps clinicians to zoom in on the genetic cause for a certain disease in a timely manner. In addition, the NGS technology is also used to diagnose patients who have been through diagnostic odysseys. Exome sequencing is currently used for this purpose in clinical labs. Exome test sequences an exome that contains all the protein coding regions which comprises 1.5% of the genome but contains 80% of recognized disease-causing mutations. Numerous examples illustrated that the exome sequencing method can efficiently identify genetic causes for undiagnosed diseases, which not only helps clinicians to obtain accurate diagnoses but also guides clinicians in the personalized care and treatment of their patients [1,2].