PSDE Highlight: Pediatric systems medicine: evaluating needs and opportunities using congenital heart block as a case study

Executing a systems medicine programme in pediatrics creates potential for collaboration between clinicians and families who are keen to prevent and predict diseases and nurture wellness in the families’ children.

Medicine and pediatrics are changing and health care is moving from being reactive to preventive. Despite rapid developments of new technologies for molecular profiling and systems analysis of diseases, significant hurdles remain. Using the clinical setting of congenital heart block (CHB), we uncover and illustrate key informatics challenges impeding the development of a systems medicine approach emphasising the prevention and prediction of disease. We find that there are few useful bioinformatics tools that enable the integrative analysis of different databases of molecular information and clinical sources in a disease context such as CHB., This is in contrast to the current emphasis on developing bioinformatics tools for the analysis of individual data types. More importantly, informatics solutions for managing data, such as the Integrating Biology and the Bedside (i2b2) or Stanford Translational Research Integrated Database Environment, require serious software engineering support for the maintenance and import of data beyond what clinicians working with CHB are capable of. There is therefore an urgent unmet need for user-friendly tools facilitating the integrative analysis and management of omics data and clinical information. Pediatrics represents an untapped potential for executing such a systems medicine programme in close collaboration with clinicians and families.


Tegnér J, Abugessaisa I (2013) “Pediatric systems medicine: evaluating needs and opportunities using congenital heart block as a case study.” Pediatr Res.Nature Publishing Group doi: 10.1038/pr.2013.19.