Neurogenetic disorders include spinocerebellar ataxia, leukodsystrophy, spastic paraplegia, and many other conditions that impact the health of children and adults. These diseases have been difficult to diagnose, but now, a discovery by UCLA researchers greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders; it could lead to better care for people suffering from them. The findings appear in the April issue of Neurology Clinical Practice.
The test is called exome sequencing; it involves determining the order of all of the genes in an individual’s genome. When used in conjunction with a complete patient evaluation and family medical history, it can help physicians identify disorders that may have gone undiagnosed for years, explained first author Brent Fogel, MD, director of the UCLA Neurogenetics Clinic and an associate professor of neurology and human genetics. He noted that exome sequencing is more efficient and less costly than the type of genetic testing that has been more commonly used, and a proper diagnosis can end what for many patients is an agonizing journey just to find a name for their disorder.
Dr. Fogel said that the growing body of evidence supporting the use of the test, and the demonstrated benefits to patients, should lead to greater insurance coverage for the test, said Fogel, who is director of the UCLA Neurogenetics Clinic and an associate professor of neurology and human genetics. He explained, “Despite extensive literature supporting the use of this technology, many insurance companies still consider it to be investigational and may refuse coverage. Our article outlines the appropriate use, benefits and limitations of exome sequencing that these companies need to consider when making coverage decisions.”
Since 2012, UCLA has been a leader in using the test as a diagnostic tool. Dr. Fogel and his team were among the first to adopt the technology for routine neurological practice, and he has been a strong advocate for wider use. In 2014, the team conducted a study regarding exome sequencing that was published in the Journal of the American Medical Association Neurology. That research showed that 20% of a group of people with spinocerebellar ataxia could be diagnosed immediately using the technique, and useful genetic information could be identified in more than 60% of the subjects, regardless of their age when the disease began or their family history.
