Dr. Liu is looking ahead to the day when sequencing all of the protein-
Explore This IssueJune 2013
coding genes with whole exome sequencing, and even the entire genome, may inform care for hearing loss. With National Institutes of Health grants, he has developed a 64-gene panel test for causes of deafness; he is also identifying and setting up a database of new genes and their function in human hearing loss and has made additional changes to the testing scenario described in his paper. GJB2 and GJB6 are still the first tests, along with mitochondrial DNA for patients with a maternal family history. If no cause is identified, patients get the panel test. If that is negative, they are eligible for either whole exome sequencing or whole genome sequencing.
Dr. Liu hopes his use of these technologies can spot new genetic causes and diagnose them in patients. Noting widespread predictions that the cost of sequencing a genome will soon drop to $1,000, he predicts that the technology will “change our way of testing and medical practice.”