• Kulkarni, A.
• Wafik, M.
• Carley, H.
• Bastiaenen, R.
• Wierzbicki, T.
• Cross, S.
• Kenney, A.
• Bustillo, B.
• Tripathi, V.
• Tomlinson, C.
• Frampton, K.
• Robert, L.
• Bueser, T.

Abstract

<jats:title>Abstract</jats:title><jats:sec><jats:title>Funding Acknowledgements</jats:title><jats:p>Type of funding sources: Public Institution(s). Main funding source(s): Guy’s and St Thomas’ Charity</jats:p><jats:p>South East Genomic Medicine Service Alliance</jats:p></jats:sec><jats:sec><jats:title>Background</jats:title><jats:p>QGenome is a smart application designed by a Regional Genetics service, in partnership with a Genomic Medicine Service Alliance (GMSA) and a technology company. The aims were to facilitate streamlined genomic testing, risk assessment, and referral guidance to relevant healthcare professionals in primary, secondary, and tertiary care settings; and to provide equity of "Genomics care" for patients across the UK, through standardized genomic testing and referral pathways.</jats:p><jats:p>Due to high clinical demand, and following a design workshop with stakeholders, the initial version of QGenome was implemented for Cancer Genomics pathways. The scope has been extended to include workflows for Cardiology and Renal Genomics. The current Inherited Cardiac Conditions (ICC) workflow includes initial genomic testing/risk assessment pathways developed for familial hypercholesterolaemia, long QT syndrome, and vascular Ehlers Danlos Syndrome (vEDS).</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>For each clinical indication/condition, QGenome provides workflow assessments to determine eligibility for genomic testing and/or specialist tertiary referral. The workflow takes the user through a series of questions about their patient’s personal, past medical, and family history in a user-friendly format, to assess inherited susceptibility to disease.</jats:p><jats:p>Eligibility criteria are derived from the UK National Genomic Test Directory, published literature and guidance from relevant advisory board working groups.</jats:p><jats:p>The app can be used to find relevant forms, save reports, and activate referrals to specialist services or genetics clinics. QGenome is freely available on iOS, android and web-based platforms.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The ICC workflows are demonstrated through the vEDS case studies (Figure).</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>QGenome offers a quick, efficient clinical decision tool for healthcare professionals, including cardiovascular nurses and allied professionals, in busy clinical settings, to differentiate between patients with likely sporadic cardiac disease and those with probable genetic/hereditary susceptibility for ICC.</jats:p></jats:sec>

Topics

• impedance spectroscopy
• size-exclusion chromatography
• susceptibility