Gene Panel Tests Detects Hundreds of Diseases at Once

A new genetic sequencing test moves beyond testing for one disease at a time, making it possible to identify more than 750 diseases triggered by mutations in children in one shot and deliver results within 6 to 8 weeks.

The screening panel, called the Targeted Gene Sequencing and Custom Analysis (TaGSCAN), covers the 514 genetic regions that code for pediatric conditions with possible hereditary or elusive diagnoses. This innovation is made possible by The Center for Pediatric Genomic Medicine at Children's Mercy in Kansas City.

Currently, most genetic tests for childhood diseases are conducted one at a time. This trial-and-error process eats up valuable time for clinicians in the search for the most effective treatment options for their patients. For families and the healthcare system, the prolonged hunt means higher costs.

TaGSCAN is a hybrid of hypothesis-based and no hypothesis-based testing.. The test looks at the genetic history of the patient's family, tests large numbers of genes, and combines the data with bioinformatic analysis. It is not a revolutionary concept within genetic circles, ultimately, the turnaround time; support service, cost, and bioinformatic analysis will determine whether it will do well as a product.

One advantage of the new test is that it can be ordered routinely. Cost depends on the number of genes or conditions a physician asks to test for -- from roughly $1,000, up to $3,000, which includes the full panel and a custom software analysis that accounts for symptoms.

TaGSCAN is an intermediate step towards the future of genetic testing. For very sick newborns without a clear diagnosis, this is a great idea. Although the turnaround time is still somewhat prohibitive for actual lifesaving interventions.