The UTHealth Genomic Medicine Guidance app is designed for use as a point-of-care decision support tool by clinicians. The app contains genetic and clinical information about eight genes that cause heritable thoracic aortic disease: ACTA2, MYH11, MYLK, PRKG1, SMAD3, TGFB2, TGFBR1, and TGFBR2.
After selecting curated pathogenic or likely pathogenic variants from a dropdown list, the app outputs gene and variant-specific recommendations for surveillance and clinical management.
Users can also submit information about novel variants. The overall goal of this app is to promote gene-based management of thoracic aortic disease in clinical practice.
After visiting the app, please complete the survey at the end of the output page, which allows you to enter comments and provide feedback.
To view a PowerPoint on the development of the app, click here.