Development and Assessment of a Point-of-Care Application (Genomic Medicine Guidance) for Heritable Thoracic Aortic Disease.

Abstract

Background: Genetic testing can determine familial and personal risks for heritable thoracic aortic aneurysms and dissections (TAD). The 2022 American College of Cardiology/American Heart Association guidelines for TAD recommend management decisions based on the specific gene mutation. However, many clinicians lack sufficient comfort or insight to integrate genetic information into clinical practice.

Objective: We therefore developed the Genomic Medicine Guidance (GMG) application, an interactive point-of-care tool to inform clinicians and patients about TAD diagnosis, treatment, and surveillance. GMG is a REDCap-based application that combines publicly available genetic data and clinical recommendations based on the TAD guidelines into one translational education tool.

Methods: TAD genetic information in GMG was sourced from the Montalcino Aortic Consortium, a worldwide collaboration of TAD centers of excellence, and the National Institutes of Health genetic repositories ClinVar and ClinGen.

Results: The application streamlines data on the 13 most frequently mutated TAD genes with 2286 unique pathogenic mutations that cause TAD so that users receive comprehensive recommendations for diagnostic testing, imaging, surveillance, medical therapy, and preventative surgical repair, as well as guidance for exercise safety and management during pregnancy. The application output can be displayed in a clinician view or exported as an informative pamphlet in a patient-friendly format.

Conclusions: The overall goal of the GMG application is to make genomic medicine more accessible to clinicians and patients while serving as a unifying platform for research. We anticipate that these features will be catalysts for collaborative projects aiming to understand the spectrum of genetic variants contributing to TAD.