Next-Generation Sequencing Panels for Inherited Cardiac Conditions [Utilization Spotlight]

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Since 2012, we have been publishing a Utilization Spotlight in every issue of the Communiqué. Each Spotlight offers a quick view of utilization management best practices in action. This Spotlight is from July 2015.

Overview

Mayo Clinic’s launch of eight new next-generation sequencing (NGS) panels is intended to improve the lives of patients and families living with inherited cardiac conditions by assisting in the diagnosis and management of these complex disorders. The NGS panels provide a genetic evaluation for patients with a personal or family history suggestive of an inherited cardiac condition.


Situation

Mayo Clinic’s launch of eight new next-generation sequencing (NGS) panels is intended to improve the lives of patients and families living with inherited cardiac conditions by assisting in the diagnosis and management of these complex disorders.

Discussion

These disorders include hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, Noonan syndrome, Marfan syndrome, long QT syndrome, and Brugada syndrome. The test panels identify inherited variants across numerous genes associated with cardiac disorders.

The NGS panels provide a genetic evaluation for patients with a personal or family history suggestive of an inherited cardiac condition. They can help to establish the diagnosis of a hereditary condition and, in some cases, allow for appropriate management and surveillance for disease features based on the gene involved.

“Genetic testing for inherited cardiac conditions is increasingly supported by professionals in the field as a means to confirm the specific diagnosis for patients, individualize their management, and allow for counseling of at-risk family members,” says Juan Bowen, M.D., director of Mayo Clinic’s Marfan Syndrome and Thoracic Aorta Clinic. “In some of the disorders that we treat, having a specific genetic diagnosis affects important management decisions, such as when to refer for preventive aortic repair.”

Identification of a pathogenic variant within a gene known to be associated with disease allows for predictive testing of at-risk family members. Linnea Baudhuin, Ph.D., a Mayo Clinic molecular geneticist who helped develop the panels, states, “If patients are affected with an inherited cardiac condition, it is likely that their children, siblings, and parents may also be at risk. In the absence of genetic testing, all of these at-risk individuals would potentially require ongoing, lifelong surveillance for development of the disease. However, if genetic testing is performed and the causative genetic variant is confirmed, those regular EKGs and echocardiograms, as well as the time and downstream costs associated with them, are no longer necessary for family members who are proven to have a negative genetic test result.”

Multi-Gene Panels

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Kelley Schreiber

Kelley Schreiber is a Marketing Channel Manager at Mayo Medical Laboratories. She is the principle editor and writer of Insights and leads social media and direct marketing strategy. Kelley has worked at Mayo Clinic since 2013. Outside of work, you can find Kelley running, traveling, playing with her new kitten, and exploring new foods.