I had a great time at the Health Research Board conference in Dublin last month - here's my talk about our work with #GenOCEANIC using #openEHR to assist #Genomics diagnostics and shorten the #DiagnosticOdyssey for #RareDisease patients: https://www.youtube.com/watch?v=P7P7vnomur8

#GenOCEANIC is our #Genomics ordercomms system (in dev) to solve the thorny problems of phenotype tagging and panel selection. Objective: to shorten the #DiagnosticOdyssey for #RareDisease patients: https://shanemuk.github.io/Genoceanic/

Progress has been made to implement newborn screening (NBS) but few conditions are screened for in most #LATAM countries. Improved processes, patient follow up & consideration for implementation of expanded NBS & other early diagnostic approaches that leverage #Genomics for the accurate diagnosis of #RareDiseases are important to reduce the #DiagnosticOdyssey & improve patient care & outcomes. #RareDisease #ERCAL