Tel Aviv, Israel — Israeli researchers from Tel Aviv University’s Sackler Faculty of Medicine and Bethlehem University have successfully developed a fast-track genetic diagnosis for hearing loss through "exome deep sequencing," a method that sequences hundreds of thousands of genes at a time.
Over 28 million Americans are hearing impaired, and 50% of these cases can be traced to genetic causes, said the University’s press release. The condition can be especially challenging for childhood speech and language development, thus early diagnosis is essential for identifying appropriate therapy and treatment.
Diagnosis for genetically caused hearing loss has traditionally been slow and costly. Traditional genetic testing can cost $20,000 and take years to complete.
Now researchers Karen Avraham of Sackler Faculty of Medicine and Moein Kanaan from Bethlehem University have successfully developed a fast and cost-effective method for diagnosing genetic hearing loss.
Avraham and Kanaan studied a group of 11 Jewish Israelis and Palestinian Arabs, none of whom were related to each other, but all of whom had deafness in their families. Using a technique called exome sequencing, which collects relevant DNA from specific sites of the body, they scanned 246 genes, ultimately identifying five mutations that lead to genetic hearing loss within the specified population.
The new genetic testing method is able to scan all the known genes for deafness and provide results in a matter of weeks, while costing less than $500.
Avraham said in the University’s press release, “It is a remarkable step forward in helping us to find treatments, and even cures, for patients. This new technology is changing the way we practice genomic medicine, and revolutionizing genetic diagnostics.” She added that the technology can be applied to searches for genetic mutations that characterize any disease or condition, not just hearing disorders.
This research was funded by the National Institutes of Health and the studies published in
the journal Genome Biology.
SOURCE: Tel Aviv University