Whole-exome sequencing emerges as clinical diagnostic tool
Testing method proves useful for diagnosing wide range of genetic disorders
Article first published online: 18 DEC 2013
DOI: 10.1002/ajmg.a.36385
© 2013 Wiley Periodicals, Inc.
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Whole-exome sequencing (WES) can be a useful diagnostic tool outside of research settings, a recent study shows.
Using WES testing methods, researchers at the Baylor College of Medicine in Houston, Texas, were able to diagnose 25% of 250 previously undiagnosed patients with suspected genetic disorders, according to a recent paper in the New England Journal of Medicine[Yang et al., 2013]. As many as 80% of the patients were children with neurologic symptoms. In all, scientists identified 86 mutated genes that are known to cause genetic diseases in 62 of the 250 patients.
The overall diagnostic yield of 25% is higher than that of more established genetic tests, such as karyotype and chromosomal microarray, which provide answers in 15% to 20% of cases, say researchers.
Figure 1. The above chart represents a data sample well flowgram from a gene sequencing machine at the National Institutes of Health Intramural Sequencing Center in Rockville, Maryland. Advances in gene sequencing testing methods have enabled scientists to diagnose a wider range of genetic disorders.
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