<?xml version="1.0" encoding="UTF-8"?><!DOCTYPE article PUBLIC "-//NLM//DTD Journal Publishing DTD v2.0 20040830//EN" "journalpublishing.dtd"><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" dtd-version="2.0" xml:lang="en" article-type="reviewer-report"><front><journal-meta><journal-id journal-id-type="nlm-ta">JMIRx Med</journal-id><journal-id journal-id-type="publisher-id">xmed</journal-id><journal-id journal-id-type="index">34</journal-id><journal-title>JMIRx Med</journal-title><abbrev-journal-title>JMIRx Med</abbrev-journal-title><issn pub-type="epub">2563-6316</issn><publisher><publisher-name>JMIR Publications</publisher-name><publisher-loc>Toronto, Canada</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">v5i1e63646</article-id><article-id pub-id-type="doi">10.2196/63646</article-id><article-categories><subj-group subj-group-type="heading"><subject>Peer-Review Report</subject></subj-group></article-categories><title-group><article-title>Peer Review of &#x201C;Development and Assessment of a Point-of-Care Application (Genomic Medicine Guidance) for Heritable Thoracic Aortic Disease&#x201D;</article-title></title-group><contrib-group><contrib contrib-type="author"><name name-style="western"><surname>Hersch</surname><given-names>Jolyn</given-names></name><degrees>PhD</degrees><xref ref-type="aff" rid="aff1"/></contrib></contrib-group><aff id="aff1"><institution>Faculty of Medicine &#x0026; Health, School of Public Health, The University of Sydney</institution>, <addr-line>Camperdown</addr-line>, <country>Australia</country></aff><contrib-group><contrib contrib-type="editor"><name name-style="western"><surname>Meinert</surname><given-names>Edward</given-names></name></contrib></contrib-group><pub-date pub-type="collection"><year>2024</year></pub-date><pub-date pub-type="epub"><day>8</day><month>10</month><year>2024</year></pub-date><volume>5</volume><elocation-id>e63646</elocation-id><history><date date-type="received"><day>25</day><month>06</month><year>2024</year></date><date date-type="accepted"><day>15</day><month>07</month><year>2024</year></date></history><copyright-statement>&#x00A9; Jolyn Hersch. Originally published in JMIRx Med (<ext-link ext-link-type="uri" xlink:href="https://med.jmirx.org">https://med.jmirx.org</ext-link>), 8.10.2024. </copyright-statement><copyright-year>2024</copyright-year><license license-type="open-access" xlink:href="https://creativecommons.org/licenses/by/4.0/"><p>This is an open-access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="https://creativecommons.org/licenses/by/4.0/">https://creativecommons.org/licenses/by/4.0/</ext-link>), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work, first published in JMIRx Med, is properly cited. The complete bibliographic information, a link to the original publication on <ext-link ext-link-type="uri" xlink:href="https://med.jmirx.org/">https://med.jmirx.org/</ext-link>, as well as this copyright and license information must be included.</p></license><self-uri xlink:type="simple" xlink:href="https://xmed.jmir.org/2024/1/e63646"/><related-article related-article-type="companion" ext-link-type="doi" xlink:href="10.1101/2023.12.22.23299696" xlink:title="Preprint (medRxiv)" xlink:type="simple">https://www.medrxiv.org/content/10.1101/2023.12.22.23299696v1</related-article><related-article related-article-type="companion" ext-link-type="doi" xlink:href="10.2196/64436" xlink:title="Authors&#x2019; Response to Peer-Review Reports" xlink:type="simple">https://med.jmirx.org/2024/1/e64436</related-article><related-article related-article-type="companion" ext-link-type="doi" xlink:href="10.2196/55903" xlink:title="Published Article" xlink:type="simple">https://med.jmirx.org/2024/1/e55903</related-article><kwd-group><kwd>genomic medicine</kwd><kwd>point of care</kwd><kwd>thoracic aortic aneurysm</kwd><kwd>aortic dissection</kwd><kwd>decision support</kwd></kwd-group></article-meta></front><body><p><italic>This is a peer-review report for &#x201C;Development and Assessment of a Point-of-Care Application (Genomic Medicine Guidance) for Heritable Thoracic Aortic Disease.&#x201D;</italic></p><sec id="s2"><title>Round 1 Review</title><sec id="s1-1"><title>General Comments</title><p>This paper [<xref ref-type="bibr" rid="ref1">1</xref>] describes an application, Genomic Medicine Guidance, a point-of-care tool to deliver concise clinical information about gene mutations that cause heritable cardiovascular diseases.</p></sec><sec id="s1-2"><title>Specific Comments</title><p>This paper provides technical details about the application and its purpose, which is to collate data about genetic/genomic risks into a readily usable summary of clinical recommendations, particularly for nonexpert clinicians. This seems like a useful resource that could be updated and expanded as time goes on. I have some comments for the authors to address in order to strengthen the manuscript.</p><sec id="s1-2-1"><title>Major Comments</title><p>1. Section 3.6: Please add a little more information about the user reviews. Who were these application users? Did they have genetics training/expertise? When and how were they recruited to provide this feedback? Was their feedback acted on in any way? (These details may belong better in the Methods section.)</p><p>2. Line 102: The text refers to Table 1, but I cannot find any table.</p><p>3. Line 115: Producing &#x201C;patient-friendly outputs&#x201D; is much easier said than done. How did the developers ensure that outputs are actually patient friendly? Were patients involved in the project team and/or user-testing activities? Are outputs &#x201C;friendly&#x201D; for patients from diverse sociodemographic populations or only those with high literacy and education? Are any visual/graphical formats used in addition to text? After jotting down the queries above, I explored the website a bit myself. I would not consider the &#x201C;patient friendly results&#x201D; to be very friendly at all, especially for those with lower health literacy. It would be good to spell out in the manuscript exactly what steps have been taken in this direction so far and to acknowledge that there is more that could&#x2014;and hopefully will&#x2014;be done.</p><p>4. Line 167: Related to the above comments, the manuscript concludes with a throwaway line that the application &#x201C;empowers patients to take an informed role in healthcare decisions.&#x201D; Undoubtedly, the application developers aspire to &#x201C;empower&#x201D; patients, but the manuscript presents no evidence to back this up. If the authors have data on how the app affects patient-reported outcome measures, please add this into the manuscript. If not, please temper this concluding statement. Perhaps an evaluation of whether and how the application actually changes patient knowledge and participation in decision-making would be a valuable next step in the research agenda.</p></sec><sec id="s1-2-2"><title>Minor Comments</title><p>5. Line 42&#x2010;43: Please provide brief examples of &#x201C;timely individualized interventions that can prevent deaths.&#x201D;</p><p>6. Line 44: Define &#x201C;ACC/AHA.</p><p>7. Line 105: Define &#x201C;HTAD.&#x201D;</p></sec></sec></sec><sec id="s3"><title>Round 2 Review</title><p>My comments were addressed to my satisfaction.</p></sec></body><back><fn-group><fn fn-type="conflict"><p>None declared.</p></fn></fn-group><ref-list><title>References</title><ref id="ref1"><label>1</label><nlm-citation citation-type="journal"><person-group person-group-type="author"><name name-style="western"><surname>Patil</surname><given-names>R</given-names> </name><name name-style="western"><surname>Ashraf</surname><given-names>F</given-names> </name><name name-style="western"><surname>Abu Dayeh</surname><given-names>S</given-names> </name><name name-style="western"><surname>Prakash</surname><given-names>SK</given-names> </name></person-group><article-title>Development and Assessment of a Point-of-Care Application (Genomic Medicine Guidance) for Heritable Thoracic Aortic Disease</article-title><source>JMIRx Med</source><year>2024</year><volume>5</volume><fpage>e55903</fpage><pub-id pub-id-type="doi">10.2196/55903</pub-id></nlm-citation></ref></ref-list></back></article>