Researchers develop DNA sequencing tests for hereditary diseases

Officials at the New Jersey Department of Health approved the use of the new Cystic Fibrosis (CF) Carrier and Diagnosis Test, which was created at the Institute for Genomic Medicine at UMDNJ-NJMS. Using a semiconductor mechanism that was developed by San Francisco-based Ion Torrent, the microchip tests the entire gene for mutations. IGM now offers this certified Clinical Diagnostic Laboratory service for hospitals as well as obstetrics and gynecology practices throughout the Garden State.

According to the Cystic Fibrosis Foundation web site, "More than 10 million Americans are symptomless carriers of the defective CF gene." This chronic disease impacts the lungs and the digestive system. It occurs when a child inherits one defective CF gene from each parent. Statistics show New Jersey averages 125,000 births of children who are diagnosed with cystic fibrosis annually.

"We believe the adaptation of this new sequencing technology will drastically improve our ability to analyze genetic disorders," said Marvin N. Schwalb, PhD, director of the Institute for Genomic Medicine. "Traditional CF sequencing testing costs thousands of dollars making the test unavailable for carrier screening. This new test costs less than $200. Most importantly, the genetic carrier test we developed improves the diagnosis rate to 98 percent. While the test provides significant improvement for all populations, the improved rate is particularly valuable for minorities because current carrier screening methods only detects approximately 65% of mutations in these populations."

The new technology provides many advances including the ability to test as many as 96 samples on a single platform and the fact that the equipment cost 1/10 as much as the previous technology.

IGM has developed another test, which was also approved by the NJHSS, for mitochondrial DNA. Mutations in mitochondria cause a wide variety of diseases, such eye and neuromuscular system disorders and possible cancer.

Schwalb, a professor of Pediatrics, Microbiology and Molecular Genetics at NJMS, said, "We are proud of the fact that the IGM is a world leader in the advancement of genetic diagnosis. DNA sequencing will keep us very busy for a while. In the state of New Jersey, there is nothing that compares to this advancement and this is just the beginning."