The Kids Heart BioBank: supporting 20 years of patient care and research into CHD.

Abstract

Introduction: The cause of most CHD is unknown and considered complex, implicating genetic and environmental factors in disease causation. The Kids Heart BioBank was established in 2003 to accelerate genetic investigations into CHD.

Methods: Recruitment includes patients undergoing interventions for CHD at The Children's Hospital at Westmead. Informed consent is obtained from parents/guardians, and blood is collected at the time of cardiac intervention from which DNA is extracted and stored. Associated detailed clinical information and a family history are stored in the purpose-designed database.

Results: To date, the Kids Heart BioBank contains biospecimens and associated clinical information from over 4,900 patients with CHD and their families. Two-thirds (64.1%) of probands have been included in research studies with 28.9% of participants who underwent genomic sequencing receiving a molecular diagnosis with direct clinical utility. The value of this resource to patients and families is highlighted by the high consent rate (94.6%) and the low withdrawal of consent rate (0.4%). The Kids Heart BioBank has supported many large national and international collaborations and contributed significantly to CHD research.

Conclusions: The Kids Heart BioBank is an invaluable resource and, together with other similar resources, the resulting research has paved the way for clinical genetic testing options for CHD patients, previously not possible. With research in the field moving away from diagnosing monogenic disease, the Kids Heart BioBank is ideally placed to support the next chapter of research efforts into complex disease mechanisms, requiring large patient cohorts with detailed phenotypic information.