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

Abstract

The Vanderbilt DNA repository, BioVU, links DNA from leftover clinical blood samples to de-identified electronic medical records (EMRs). After initiating adult sample collection, pediatric extension required consideration of ethical concerns specific to pediatrics and implementation of specialized DNA extraction methods. In the first year of pediatric sample collection, more than 11,000 samples from individuals younger than 18 years were included. We compared data from the pediatric BioVU cohort with those from the overall Vanderbilt University Medical Center pediatric population and found similar demographic characteristics; however, the BioVU cohort had higher rates of select diseases, medication exposures, and laboratory testing, demonstrating enriched representation of severe or chronic disease. The fact that the sample accumulation is not balanced may accelerate research in some cohorts while limiting the study of relatively benign conditions and the accrual of unaffected and unbiased control samples. BioVU represents a feasible model for pediatric DNA biobanking but involves both ethical and practical considerations specific to the pediatric population.

Figures

Figure 1

Schematic representation of the relationship between the Synthetic Derivative (de-identified medical record information) and the BioVU biorepository (de-identified medical record information linked to a de-identified biospecimen).

Figure 2

Monthly accrual for new unique samples and cumulative accrual over the first year from individuals

Figure 3

Medical usage data for both the full SD cohort and the BioVU subset for (A) cumulative inpatient days and (B) unique outpatient encounters. The data are presented as percentages of the respective cohort because of the large disparity in absolute cohort sizes.