Review Promotes Use of Clinical Exome Sequencing for Diagnosis of Neurological Diseases

The exome is defined as all coding exons in the genome and is comprised of the most functionally relevant and best understood 1% of the human genome. Targeted sequencing is a powerful technique allowing researchers to focus their analysis on this critical portion of the genome.

A pertinent example of the technique's potential reported in 2014 showed that 20% of a group of individuals with spinocerebellar ataxia could be diagnosed immediately using exome sequencing, and that useful genetic information could be obtained in more than 60% of the subjects, regardless of their age at onset of the disease or their family history.

“Despite extensive literature supporting the use of this technology, many insurance companies still consider it to be investigational and may refuse coverage,” said first author Dr. Brent Fogel, assistant professor of neurology and human genetics at the University of California, Los Angeles. “Our article outlines the appropriate use, benefits and limitations of exome sequencing that these companies need to consider when making coverage decisions.”

The review was published in the April 2016 issue of the journal Neurology Clinical Practice.


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University of California, Los Angeles