TASK ORDER 5R - PERSONALIZED ENVIRONMENT AND GENES STUDY (PEGS)

The Personalized Environment and Genes Study (PEGS) is a long-term project to collect health, exposure, medical, and genetic data from a diverse group of people in North Carolina. Initiated in 2002, PEGS was formerly called the Environmental Polymorphisms Registry (EPR) and is sponsored by the National Institute of Environmental Health Sciences (NIEHS), which is part of the National Institutes of Health (NIH).

A total of 19,672 participants are enrolled, and ~11,000 are actively engaged with annual contact. Enrollment of participants is ongoing.

From 2013-2020, three surveys were used to collect phenotype and exposure data in the cohort. The PEGS Health and Exposure Survey (N = 9,414) collected data on general demographics, family medical history, information on lifestyle factors such as smoking and alcohol use, and data on occupational exposures. Beginning in 2017, the NIEHS PEGS Exposome Survey was administered to collect comprehensive information about endogenous and exogenous exposures throughout life.

Part A is focused on external exposures, including chemical and environmental exposures at work and home from childhood to the present. Part B includes questions about internal exposures, including medications, and lifestyle factors such as physical activity, stress, sleep, and diet.

In addition to the survey-based exposure data, address histories (included longest-lived childhood address) are collected. These addresses have been used to link participants with a growing list of geospatial exposure estimates, including air pollution and distance to toxic release and agricultural operation sites.

In addition to the collection of extensive exposure data, whole genome sequencing (WGS) has been conducted for the 4,737 participants with the most complete exposure data. The WGS data enable genetic studies evaluating not only single nucleotide variants but also other variants comprehensively assayed by WGS, including copy number and structural variants, telomere length, and high-resolution human leukocyte antigen (HLA) complex variation.

Efforts are ongoing with both the University of North Carolina at Chapel Hill (UNC) and Duke University to integrate electronic health records for PEGS participants. Together these efforts represent an unprecedented integration of medical information backed by UNC and Duke system electronic medical records (EMRs), exposure information and WGS data. International efforts such as the Tohoku Medical Megabank in Japan, multiple registries in Denmark, and CanPath in Canada have assembled extensive data within their cohorts.

In the United States, however, not only is PEGS unique, but PEGS participants are also an active and engaged group.

In summary, PEGS has registered 19,672 North Carolina residents and includes rapidly expanding sets of high-dimensional data that comprise: • Responses to health and exposure surveys, internal exposome surveys and external exposome surveys.

• Electronic Health Records (EHRs) and Electronic Medical Records (EMRs), including International Classification of Diseases (ICD) information. • Whole genome sequencing data. • Geographic Information Systems (GIS) data.