Study concludes insurers should provide better coverage for cutting-edge genetic test

April 6, 2016, University of California, Los Angeles
Credit: Maksim Koval/iStock

UCLA researchers have found that a state-of-the-art molecular genetic test greatly improves the speed and accuracy with which they can diagnose neurogenetic disorders in children and adults. The discovery could lead directly to better care for people with rare diseases like spinocerebellar ataxia, leukodsystrophy, spastic paraplegia and many other conditions.

The , called exome sequencing, involves determining the order of all of the genes in a person's genome. When used in concert with a complete patient evaluation and family medical history, the approach can help doctors identify disorders that may have gone undiagnosed for years, said Dr. Brent Fogel, first author of a review that appears in the April issue of Neurology Clinical Practice.

Exome sequencing is more efficient and less costly than the type of genetic testing that has been more commonly used, Fogel said—and a proper diagnosis can end what for many patients is an agonizing journey just to find a name for their conditions.

The growing body of evidence supporting the use of the test, and the demonstrated benefits to patients, should lead to greater insurance coverage of the test, said Fogel, who is director of the UCLA Neurogenetics Clinic and an associate professor of neurology and human genetics.

"Despite extensive literature supporting the use of this technology, many insurance companies still consider it to be investigational and may refuse coverage," he said. "Our article outlines the appropriate use, benefits and limitations of exome sequencing that these companies need to consider when making coverage decisions."

UCLA has been a leader in using the test as a diagnostic tool since 2012. 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.

Fogel and colleagues wrote a 2014 study about that was published in the Journal of the American Medical Association Neurology. That research found that 20 percent of a group of people with could be diagnosed immediately using the technique, and useful genetic information could be identified in more than 60 percent of the subjects, regardless of their age when the disease began or their family history.

Explore further: Whole-exome sequencing: A rational approach for 'diagnostic odyssey' patients

More information: B. L. Fogel et al. Clinical exome sequencing in neurologic disease, Neurology: Clinical Practice (2016). DOI: 10.1212/CPJ.0000000000000239

Related Stories

Whole-exome sequencing: A rational approach for 'diagnostic odyssey' patients

March 1, 2016
A new clinical study from the Mayo Clinic Center for Individualized Medicine shows that whole-exome sequencing (WES) could serve as a viable diagnostic approach for identifying rare inherited diseases and providing a resolution ...

Study examines type of exome sequencing and molecular diagnostic yield

October 19, 2014
In a sample of patients with undiagnosed, suspected genetic conditions, a certain type of exome sequencing method was associated with a higher molecular diagnostic yield than traditional molecular diagnostic methods, according ...

Whole genome or exome sequencing: An individual insight

June 27, 2013
Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds research in BioMed Central's open access journal Genome Medicine. The research compares several sequencing technologies ...

Genomic technology enters the mainstream practice of medicine

June 18, 2014
Clinical genome and exome sequencing (CGES) was once deemed exotic, but is increasingly being used by clinical geneticists and other specialists to diagnose rare, clinically unrecognizable, or puzzling disorders that are ...

New study validates usefulness of genomic medicine in children with neurologic disorders

December 3, 2014
Results from more than 100 families with children affected by a broad range of neurologic and developmental disorders who underwent genomic testing to end their quest for a diagnosis, were published today in Science Translational ...

Whole-exome sequencing IDs genetic cause in quarter of cases

October 3, 2013
(HealthDay)—For patients with suspected genetic disorders, whole-exome sequencing identifies the underlying genetic defect in 25 percent of cases, according to a study published online Oct. 2 in the New England Journal ...

Recommended for you

Mechanism behind neuron death in motor neurone disease and frontotemporal dementia discovered

April 20, 2018
Scientists have identified the molecular mechanism that leads to the death of neurons in amyotrophic lateral sclerosis (also known as ALS or motor neurone disease) and a common form of frontotemporal dementia.

When there's an audience, people's performance improves

April 20, 2018
Often, people think performing in front of others will make them mess up, but a new study led by a Johns Hopkins University neuroscientist found the opposite: being watched makes people do better.

Animal study connects fear behavior, rhythmic breathing, brain smell center

April 20, 2018
"Take a deep breath" is the mantra of every anxiety-reducing advice list ever written. And for good reason. There's increasing physiological evidence connecting breathing patterns with the brain regions that control mood ...

Signaling between neuron types found to instigate morphological changes during early neocortex development

April 20, 2018
A team of researchers from several institutions in Japan has found that developing neocortex neurons in mammals undergo a morphological transition from a multipolar shape to a bipolar shape due at least partially to signaling ...

MRI technique detects spinal cord changes in MS patients

April 20, 2018
A Vanderbilt University Medical Center-led research team has shown that magnetic resonance imaging (MRI) can detect changes in resting-state spinal cord function in patients with multiple sclerosis (MS).

Gene variant increases empathy-driven fear in mice

April 20, 2018
Researchers at the Center for Cognition and Sociality, within the Institute for Basic Science (IBS), have just published as study in Neuron reporting a genetic variant that controls and increases empathy-driven fear in mice. ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.