A Model for the Integration of Genome Sequencing into a Paediatric Cardiology Clinic

Genetic testing in cardiology improves the management of patients and families. Genome Sequencing (GS) is a comprehensive, non-targeted approach to genetic testing, and an established pillar of precision medicine used to increase genetic discoveries, diagnoses, and provide individualized care. Challenges with integrating GS into cardiology include: a lack of genomic literacy, recurrent data interpretation, and returning results to patients. The Cardiac Genome Clinic proposes a multidisciplinary model to support the integration of GS into paediatric cardiology. Preliminary data shows that use of this model supported 1) new diagnoses, 2) identification of medically actionable secondary findings, and 3) improved medication management.