Inclusion of pediatric samples in an opt-out biorepository linking DNA to de-identified medical records: pediatric...

Area of Science:

• Genomics and Bioinformatics
• Pediatric Research
• Biobanking

Background:

• The Vanderbilt DNA repository, BioVU, integrates DNA from clinical blood samples with de-identified electronic medical records (EMRs).
• Expansion to pediatric sample collection necessitated addressing unique ethical considerations and specialized DNA extraction techniques for individuals under 18.

Purpose of the Study:

• To evaluate the feasibility and characteristics of a pediatric DNA biobank (BioVU).
• To compare the demographic and clinical profiles of the pediatric BioVU cohort with the general pediatric population at Vanderbilt University Medical Center.

Main Methods:

• Collected over 11,000 pediatric DNA samples in the first year.
• Linked DNA samples to de-identified electronic medical records (EMRs).
• Compared demographic data and disease prevalence between the BioVU pediatric cohort and the overall pediatric population.

Main Results:

• The pediatric BioVU cohort exhibited similar demographics to the general pediatric population.
• The BioVU cohort showed enriched representation of severe or chronic diseases, medication exposures, and laboratory testing.
• Sample accumulation was unbalanced, potentially accelerating research in certain disease areas while limiting studies on benign conditions and control groups.

Conclusions:

• BioVU provides a feasible model for pediatric DNA biobanking.
• Ethical and practical considerations unique to the pediatric population must be managed.
• The enriched disease representation in BioVU can accelerate research but requires careful consideration for control group selection.