Gene Chip Diagnostic Test for Pediatric Hearing Impairment

Principal Investigator: John Greinwald Jr., MD

Approximately 40,000 children in the United States will be diagnosed with inner ear hearing loss each year. Furthermore, since children with hearing loss are diagnosed at an average age of two and one-half years, delayed development is likely to occur.

John Greinwald Jr., MD, and colleagues have developed a patent-pending gene chip designed to help physicians diagnose inner ear hearing loss in children. While inner ear hearing loss is caused by a number of factors, about 60 percent of all cases can be attributed to genetic causes. In such cases, gene chip testing can identify hearing loss more completely than traditional tests. Additionally, this testing will help physicians and families consider long-term treatment options by providing a personalized understanding of how hearing loss may progress as the child ages.

The main element of the test is a tiny chip capable of storing hundreds of thousands of microscopic cells, each containing a different genetic sample. Cells in the chip can be compared simultaneously using microarray technology, providing invaluable information to guide therapy. In addition to early identification of hearing loss, the analysis can help a treatment team decide whether a child should exclusively rely on sign language, use a hearing aid or consider a cochlear implant.

In some cases, the chip could also eliminate the need for more invasive and expensive tests. Estimates show that the gene chip could potentially reduce the related diagnostic health care costs of children with hearing loss by as much as 45 percent.

In its pilot phase, the project was initially supported by the Translational Research Initiative at Cincinnati Children's Hospital Medical Center. The current integrity and validation studies are being supported by the Biomedical Research and Technology Transfer Partnership (BRTT) of the Ohio Third Frontier Project. By developing and implementing vital bioinformatic and interpretation platforms necessary for analyzing the complex genetic data generated by the gene chip, the Computational Medicine Center is critical to the successful completion of this project.