The Environmental Polymorphisms Registry: a DNA resource to study genetic susceptibility loci

Abstract

The National Institute of Environmental Health Sciences is establishing a DNA repository named the Environmental Polymorphisms Registry (EPR). The goal is to recruit 20,000 subjects from the greater Research Triangle Park region of North Carolina and collect a sample of each subject's DNA for genetic study. Personal information is obtained from each EPR subject and linked to their sample in coded form. Once individuals with the genotypes of interest are identified, their samples are decoded, and their names and contact information are given to scientists for follow-up studies in which genotype is important. "Recruit-by-genotype" resources such as the EPR require a transparent consent process and rigorous human subjects protection measures. Unlike the EPR, most US DNA resources are anonymous. Once scientists identify potentially significant genetic variants, they must screen new populations to find individuals with the variants of interest to study. The EPR eliminates this time consuming and expensive step. In designing the EPR, consideration was given to achieving high response rates, minimizing attrition and maximizing usefulness for future research studies. Subjects are recruited from outpatient clinics in area medical centers as well as from the general population to ascertain individuals in diverse states of health. Data are collected on race, ethnicity, gender and age, and are monitored for demographic diversity. As of November 2007, 7,788 individuals have been recruited into the EPR and their DNA samples have been used in numerous genetic studies. EPR subjects have also been solicited for several follow-up studies with high response rates (>90%). The success of the EPR based on the number of subjects recruited and genetic studies underway, suggests that it will be a model for future DNA resources.

Research Participants' Perspectives on Genotype-Driven Research Recruitment

“…2 This kind of “recruitment by genotype” eliminates the time-consuming and expensive step of screening new populations to find subjects who have the variant of interest. 3 Such recruitment could be undertaken when investigators want to recontact selected participants in their own studies for further research 4 or in the context of biobanks that maintain a link between stored biospecimens and data and identifying information. 5 Conceivably, individuals who have particular gene variants could also be identified by searching across multiple datasets stored in centralized databases, such as dbGaP—an approach that could maximize the utility of the massive amounts of data generated in genome-wide association studies, only a tiny fraction of which is related to the disease or condition originally under study.…”

The Environmental Polymorphism Registry: A Unique Resource that Facilitates Translational Research of Environmental Disease

“…No subjects are reidentified for phase 2 studies until a protocol is developed and reviewed by an advisory oversight committee (the EPR Steering Committee), scientific review committee, and institutional review board (IRB). EPR methods, human subjects protection measures, advisory oversight, and other aspects have been described in detail previously (Chulada et al 2008). …”

“…At the time of our first report, the EPR consisted of 7,788 subjects (Chulada et al 2008). Today, there are twice that number ( n = 15,376 subjects of diverse sex, age, race, and ethnicity).…”

“…Therefore, we maintain current contact information on as many subjects as possible using a combination of annual mailings, telephone calls, and tracing (Chulada et al 2008). EPR subjects are considered active (for phase 2 studies) if they are newly recruited (within a year) or have been successfully recontacted within the past year.…”

“…The EPR has been described previously (Chulada et al 2008; NIEHS 2011). Here we report on our progress in establishing the EPR since 2008 and its use in several follow-up studies.…”