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#diagnosticodyssey

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Shane McKee<p>I had a great time at the Health Research Board conference in Dublin last month - here&#39;s my talk about our work with <a href="https://mastodon.ie/tags/GenOCEANIC" class="mention hashtag" rel="tag">#<span>GenOCEANIC</span></a> using <a href="https://mastodon.ie/tags/openEHR" class="mention hashtag" rel="tag">#<span>openEHR</span></a> to assist <a href="https://mastodon.ie/tags/Genomics" class="mention hashtag" rel="tag">#<span>Genomics</span></a> diagnostics and shorten the <a href="https://mastodon.ie/tags/DiagnosticOdyssey" class="mention hashtag" rel="tag">#<span>DiagnosticOdyssey</span></a> for <a href="https://mastodon.ie/tags/RareDisease" class="mention hashtag" rel="tag">#<span>RareDisease</span></a> patients: <a href="https://www.youtube.com/watch?v=P7P7vnomur8" target="_blank" rel="nofollow noopener noreferrer" translate="no"><span class="invisible">https://www.</span><span class="ellipsis">youtube.com/watch?v=P7P7vnomur</span><span class="invisible">8</span></a></p>
Shane McKee<p><a href="https://mastodon.ie/tags/GenOCEANIC" class="mention hashtag" rel="tag">#<span>GenOCEANIC</span></a> is our <a href="https://mastodon.ie/tags/Genomics" class="mention hashtag" rel="tag">#<span>Genomics</span></a> ordercomms system (in dev) to solve the thorny problems of phenotype tagging and panel selection. Objective: to shorten the <a href="https://mastodon.ie/tags/DiagnosticOdyssey" class="mention hashtag" rel="tag">#<span>DiagnosticOdyssey</span></a> for <a href="https://mastodon.ie/tags/RareDisease" class="mention hashtag" rel="tag">#<span>RareDisease</span></a> patients: <a href="https://shanemuk.github.io/Genoceanic/" target="_blank" rel="nofollow noopener noreferrer" translate="no"><span class="invisible">https://</span><span class="">shanemuk.github.io/Genoceanic/</span><span class="invisible"></span></a></p>
Claudia Gonzaga-Jauregui 🧬<p>Progress has been made to implement newborn screening (NBS) but few conditions are screened for in most <a href="https://genomic.social/tags/LATAM" class="mention hashtag" rel="nofollow noopener noreferrer" target="_blank">#<span>LATAM</span></a> countries. Improved processes, patient follow up &amp; consideration for implementation of expanded NBS &amp; other early diagnostic approaches that leverage <a href="https://genomic.social/tags/Genomics" class="mention hashtag" rel="nofollow noopener noreferrer" target="_blank">#<span>Genomics</span></a> for the accurate diagnosis of <a href="https://genomic.social/tags/RareDiseases" class="mention hashtag" rel="nofollow noopener noreferrer" target="_blank">#<span>RareDiseases</span></a> are important to reduce the <a href="https://genomic.social/tags/DiagnosticOdyssey" class="mention hashtag" rel="nofollow noopener noreferrer" target="_blank">#<span>DiagnosticOdyssey</span></a> &amp; improve patient care &amp; outcomes. <a href="https://genomic.social/tags/RareDisease" class="mention hashtag" rel="nofollow noopener noreferrer" target="_blank">#<span>RareDisease</span></a> <a href="https://genomic.social/tags/ERCAL" class="mention hashtag" rel="nofollow noopener noreferrer" target="_blank">#<span>ERCAL</span></a></p>
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