COSM14: Genetics Research on Hearing Loss Provides New Insights

If the child is old enough to be imaged without sedation and the parents are interested, then imaging and genetic testing are done. “But we don’t do it in everybody,” he said. If the problem is severe to profound, then the imaging and testing is done. If it’s not, then the child is followed at six-month intervals. If the hearing loss is found to be progressive, the imaging and testing is done.

“It’s phenotype-based,” Dr. Papsin said. “And it’s based upon the progression. That’s the start point for doing the testing. Up till then, I do nothing.”

But this approach is used within a system in which all children are captured, everyone who chooses to be is fully vaccinated, and there is a “reasonable medical legal environment” in which physicians are less afraid of being sued. “It’s the progressive hearing loss that’s the reason to proceed with the diagnostic algorithm,” he said. “There is no diagnostic algorithm without the progressivity. And it’s probably the only finding that justifies the expense of diagnostic testing.”

Dr. Choo said genetics testing and imaging can help guide discussions with parents. It may be that, “based upon the genotype, we really predict your kid’s going to be in the severe to profound range …. I’ll start planting the seeds about a cochlear implant for that kid fairly early.”

Dr. Griffith said that, in the case of the SLC26A4 gene, multiple mutations mean a worse outlook and a higher likelihood that siblings will be affected. “That has implications for the family,” he said, “because they try to predict what to expect.”

Thomas Collins is a freelance medical writer based in Florida.