From a genetic standpoint, one of the most commonly inherited diseases is heart diseased. Nearly 1% of the population is affected by inherited heart disease, but up until now, the testing process for the inherited genes has been extraordinarily difficult.
A sequencing panel has been developed that has the potential to change the face of cardiology for the better. In the past, testing for genetic signals of heart disease was a costly and unwieldy process. When trying to determine whether or not a patient’s heart conditions were genetic (or to determine what the genetics were that caused an inherited condition), medical professionals were limited to very specific tests that only focused on singular genes. It was impossible to efficiently test, and if the specific tests were inconclusive, then researchers and doctors would be forced to “serial test”, with the hopes of stumbling upon a solution.
The company Illumina has eliminated some of that inherent struggle with their development of TruSight. TruSight is sequencing panel that focuses specifically on genes that are associated with heart conditions. Trusight Cardio has made 174 genes associated with cardiac conditions available to be tested for, and Illumina has worked to include casual variants of the genes as well. This means that both “core genes” and genes that were considered emerging genes were included in the panel.
The senior product manager for Illumina’s generic health business was quoted saying:
“Existing gene panels for profiling genes related to inherited cardiac conditions tend to be smaller in size, leading to revalidation of bespoke panels, or having to send out tests when a particular set of genes are not available”.
Ilumina’s goal was to create a more flexible space for cardiologists and researchers. With their new sequencing panel, clinical researchers now have the ability to see as many genes as they felt were necessary for the research situation at hand. Not only was there an increase in the availability of genes, but Illumina in the year of development, they also successfully created TruSight to have a quick turnaround in labs, and a reasonably low price point.
TruSight will make for a much more effective diagnosis process, and will inevitably save a great deal of time, money, and lives in the long term.
To see the articles that were used as resources, click here & here
