Trial Information

Environmental Polymorphism Registry (EPR)

We are establishing a large biorepository of frozen DNA samples (n=20,000) in which the DNAs
are linked to the donor's identities, contact information, and some basic demographics
through a personal identification number (PIN). The DNAs will be made available to
investigators in coded form to anonymously screen for the presence of SNPs and other
mutations by standard genotyping methods. Once subjects with the genotypes of interest have
been identified, investigators can apply for re-identification of the samples and ask the
same subjects to participate in follow-up phenotyping studies in a process known as
phenotype-by-genotype.

To investigate the feasibility of this large project named the Environmental Polymorphism
Registry (EPR), we first conducted a pilot study (Environmental Polymorphisms Study or EPS)
at two University of North Carolina (UNC) Healthcare clinics. The goals of the EPS were to
assess the willingness of outpatients to participate in a genetic study of this sort and
identify potential problems that might arise when conducting the much larger 20,000-sample
EPR. In the EPS, recruitment rates were high at both sites; 77% of patients approached
while having their blood drawn for clinical testing agreed to participate by signing the
informed consent form (ICF) and donating their leftover blood. Based on these results, we
decided to proceed with the EPR. Since the EPS (pilot study) subjects and their samples have
been incorporated into the larger EPR and will be used similarly, the EPS and EPR protocols
were merged into this one protocol.

EPR subjects will be recruited from North Carolina from the NIEHS Clinical Research Unit
(CRU), various healthcare clinics, and the general public. The latter includes university
campuses, health fairs, study drives held at various locations (corporations, community
centers, community events, etc.) and the EPR website. Subjects will be asked to donate blood
for DNA isolation and archiving. They will go through an extensive ICF process in which they
are told about the uncertain uses of their samples in genetic screening projects and the
possibility of being recontacted for voluntary follow-up studies.