Cardiomyopathy and congenital heart conditions are associated with an estimated 135 genes that could lead to death. Several of the gene variants can be classified as benign or disease-causing, enabling physicians to formulate appropriate monitoring and therapy choices.

The problem arises when one understands that additional variants exist which have an "uncertain significance" and thus makes it complicated to use genetic screening methods for identifying patients who have the maximum risk of suffering from cardiac ailments.

A new risk assessment tool combining gene editing technology CRISPR-Cas9 with stem cells using disease modeling techniques has been developed by a team of scientists at the Stanford University Cardiovascular Institute. The tool has facilitated the modeling of individual patients’ heart in a lab and enabled undertaking of tests to ascertain whether or not signs of diseases are displayed by cardiac cells, as per a statement by the American Heart Association. It is believed by the Association that the technology can be used for creating a personalized screening tool which can go a long way in identifying the meaningfulness of variants of uncertain insignificance.

Work on developing the tool was started by initiating the collection of DNA from 54 healthy people and arranging it for the genes known to be linked with sudden cardiac arrest.