According to an article that recently appeared in ScienceDaily, scientists have developed a test that can screen all of the genes known to cause deafness in a single run, rather than the time-consuming and expensive process that had to be used previously.
Pinpointing the exact genetic cause of inherited deafness involved sequencing one gene at a time, a process that can take up to a year and cost roughly $1,000 per gene. It would cost around $75,000 to test all known deafness causing genes using this approach. Now University of Iowa researchers working with colleagues at Baylor College of Medicine have developed a new test, called OtoSCOPE, which can provide definitive results in one to three months and for about $2,000. OtoSCOPE means quicker answers for families anxious to determine treatment options or learn the likelihood that future children will have hearing loss.
The new test will be available through the UI's Molecular Otolaryngology and Renal Research Laboratory (MORL) by spring 2011 to clinicians and patients within the U.S. and potentially in other countries. The UI lab will be the first in the world to offer genetic testing for all known hearing loss genes simultaneously.
Genetic testing can provide useful information on whether the hearing loss will be severe, moderate or mild and whether it will progress, and whether another child born in the family will also be affected by hearing loss. Genetic information can also help determine the best options for treatment, such as whether cochlear implants or hearing aids are the best treatment to improve hearing.
The new method uses the latest DNA sequencing technology to simultaneously screen all 54 genes known to cause non-syndromic deafness — hearing loss that is not associated with other medical problems — along with a dozen additional genes that cause syndromic deafness — hearing loss that occurs with other complications such as blindness. The screening test was able to identify the genetic cause of hearing loss in five of the six unknowns. In fact, in addition to finding two known hearing loss mutations, the test also uncovered three new mutations within known genes.
Stay tuned for future availability of the test at Shohet Ear Associates.