{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T18:44:29Z","timestamp":1782845069520,"version":"3.54.5"},"reference-count":16,"publisher":"JMIR Publications Inc.","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JMIRx Med"],"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n 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.<\/jats:p>\n <\/jats:sec>","DOI":"10.2196\/55903","type":"journal-article","created":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T08:55:19Z","timestamp":1719392119000},"page":"e55903-e55903","source":"Crossref","is-referenced-by-count":7,"title":["Development and Assessment of a Point-of-Care Application (Genomic Medicine Guidance) for Heritable Thoracic Aortic Disease"],"prefix":"10.2196","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-3608-1425","authenticated-orcid":false,"given":"Rohan","family":"Patil","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-7399-6260","authenticated-orcid":false,"given":"Fatima","family":"Ashraf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3623-7678","authenticated-orcid":false,"given":"Samer","family":"Abu Dayeh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6341-9624","authenticated-orcid":false,"given":"Siddharth K","family":"Prakash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1010","published-online":{"date-parts":[[2024,10,8]]},"reference":[{"issue":"10","key":"R1","doi-asserted-by":"publisher","first-page":"1814","DOI":"10.3390\/genes13101814","article-title":"Risk factors for thoracic aortic dissection","volume":"13","author":"Zhou","journal-title":"Genes (Basel)"},{"issue":"4","key":"R2","doi-asserted-by":"publisher","DOI":"10.1161\/HCG.0000000000000067","article-title":"Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association","volume":"13","author":"Musunuru","journal-title":"Circ Genom Precis Med"},{"issue":"8","key":"R3","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1016\/j.jacc.2007.05.015","article-title":"Genetic testing in cardiovascular disease","volume":"50","author":"Robin","journal-title":"J Am Coll Cardiol"},{"issue":"4","key":"R4","doi-asserted-by":"publisher","first-page":"638","DOI":"10.3390\/jpm13040638","article-title":"Trends in availability of genetic tests in the United States, 2012\u20132022","volume":"13","author":"Halbisen","journal-title":"J Pers Med"},{"issue":"24","key":"R5","doi-asserted-by":"publisher","first-page":"e334","DOI":"10.1161\/CIR.0000000000001106","article-title":"2022 ACC\/AHA Guideline for the Diagnosis and Management of Aortic Disease: a report of the American Heart Association\/American College of Cardiology Joint Committee on clinical practice guidelines","volume":"146","author":"Isselbacher","journal-title":"Circulation"},{"issue":"7","key":"R6","doi-asserted-by":"publisher","DOI":"10.1161\/JAHA.121.023763","article-title":"Practitioners\u2019 confidence and desires for education in cardiovascular and sudden cardiac death genetics","volume":"11","author":"Lopez Santibanez Jacome","journal-title":"J Am Heart Assoc"},{"issue":"1","key":"R7","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1186\/s12910-017-0207-8","article-title":"Healthcare professionals\u2019 and patients\u2019 perspectives on consent to clinical genetic testing: moving towards a more relational approach","volume":"18","author":"Samuel","journal-title":"BMC Med Ethics"},{"issue":"1","key":"R8","doi-asserted-by":"publisher","DOI":"10.2196\/jmir.1539","article-title":"Type of evidence behind point-of-care clinical information products: a bibliometric analysis","volume":"13","author":"Ketchum","journal-title":"J Med Internet Res"},{"issue":"4","key":"R9","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1038\/s41436-020-01045-1","article-title":"Effect of genetics clinical decision support tools on health-care providers\u2019 decision making: a mixed-methods systematic review","volume":"23","author":"Sebastian","journal-title":"Genet Med"},{"issue":"4","key":"R10","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1038\/gim.2012.157","article-title":"Implementing genomic medicine in the clinic: the future is here","volume":"15","author":"Manolio","journal-title":"Genet Med"},{"issue":"7","key":"R11","doi-asserted-by":"publisher","DOI":"10.3390\/jpm11070596","article-title":"Genomics as a clinical decision support tool: successful proof of concept for improved ASD outcomes","volume":"11","author":"Way","journal-title":"J Pers Med"},{"key":"R12","unstructured":"Exemptions. UTHealth Houston. URL: https:\/\/www.uth.edu\/cphs\/policies\/exemptions.htm [Accessed 06-09-2024]"},{"key":"R13","unstructured":"ClinVar. National Center for Biotechnology Information. 2024. URL: https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/ [Accessed 03-09-2024]"},{"key":"R14","unstructured":"ClinGen. 2024. URL: https:\/\/www.clinicalgenome.org\/ [Accessed 03-09-2024]"},{"key":"R15","unstructured":"Genomic Medicine Guidance. REDCap. 2023. URL: https:\/\/go.uth.edu\/GMG [Accessed 03-09-2024]"},{"key":"R16","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-4-13","article-title":"The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies","volume":"4","author":"McCarty","journal-title":"BMC Med Genomics"}],"container-title":["JMIRx Med"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/xmed.jmir.org\/2024\/1\/e55903","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T17:44:24Z","timestamp":1782841464000},"score":1,"resource":{"primary":{"URL":"https:\/\/xmed.jmir.org\/2024\/1\/e55903"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,8]]},"references-count":16,"URL":"https:\/\/doi.org\/10.2196\/55903","relation":{},"ISSN":["2563-6316"],"issn-type":[{"value":"2563-6316","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,8]]},"article-number":"v5i10e55903"}}