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

A recent review discussed the potential role of clinical exome sequencing for diagnosis of neurological diseases, focusing on the benefits to patients, limitations of the technique, appropriate use, and costs.

Investigators at the University of California, Los Angeles wished to improve the current situation in which the state-of-the-art molecular genetic test that provides an unbiased analysis of all protein-coding sequences in the roughly 21,000 genes in the human genome is rarely used for the diagnosis of neurological disorders.

The human exome is critical to our genetic make-up and is generally accepted as having the greatest influence on how the genetic blueprint is utilized. 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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