Personalized Environment and Genes Study (PEGS)

National Institute Of Environmental Health Sciences

Investigators

Linked publications & trials

Abstract

The Environmental Polymorphisms Registry (EPR), now called Personalized Environment and Genes Study (PEGS) of over 17,000 participants provides a unique resource for a variety of studies dedicated to clarifying the interaction of genetic and environmental determinants of human health. The PEGS's subject and sample resources (blood, DNA, and other materials) can be used to examine environmental factors and gene-environment interactions in health and disease. Genotypic, phenotypic, and exposome data collected by the PEGS is used by collaborating scientists and physicians, with or without re-contact of participants, for follow-up clinical studies, to identify disease mechanisms, and to better understand individual susceptibility to disease resulting from environmental factors. In a subset of participants, DNA was subjected to whole genome sequencing (WGS) for more in-depth analysis of gene-by-environment interactions in the pathogenesis of disease. A subset of PEGS participants have also provided disease and exposure data that support a wide range of research questions. Continuing enrollment and participation of these subjects, coupled with the ability to link their data with additional, is of increasing value in this era of personalized/precision medicine. DNA samples are available to scientists to study variations in genes (polymorphisms) that may be linked to common diseases such as diabetes, heart disease, cancer, asthma and others. While many types of genes are studied as part of the EPR, the focus is on genes that may increase the risk of human disease when combined with environmental exposures (environmental response genes). Alternatively, these genes may also decrease risk of disease by protecting individuals after environmental exposures. PEGS surveys are designed to collect health, family history of disease, environmental exposures, and lifestyle data. Data from questionnaires are used to identify EPR participants who may be eligible for follow-up studies based on their health, family history, or exposures. These surveys make the EPR more useful in answering research questions related to gene-environment interactions and help researchers to develop new ways of preventing, diagnosing, and treating common diseases. PEGS Health and Exposure Survey: The PEGS Health and Exposure Survey is designed to gather health, family history of disease, environmental exposures, socioeconomic status, and lifestyle data on EPR participants. The self-administered survey, consisting of approximately 200 questions, focuses on general demographics, medical and family history, lifestyle factors, including smoking and alcohol use, and occupational exposures. Questions from validated surveys (e.g. National Health Information Survey, National Health and Nutrition Examination Survey) were used in their original format or adapted for use in the EPR. The survey is available to all PEGS participants. The information collected from 9,000 participants has been used to better characterize the EPR population, making it more useful in answering research questions related to gene-environment interactions. Data from the survey have helped researchers develop hypotheses, design follow-up studies, and select appropriate participants for participation in these follow-up studies. Exposome Survey: The PEGS Exposome Survey is designed to further enhance the EPR as a resource for NIEHS researchers and collaborators to investigate how exposures interact with an individual's unique genetic and physiologic characteristics to affect health. Approaches such as epigenomics are able to focus on the nature and timing of environmental exposures in influencing gene expression or cellular phenotypes (vs. structural changes to the genotype per se). An exposome approach offers a framework for integrating the complex world of exposures and forces impacting genome function throughout the life course. The incorporation of the exposome framework into scientific research has been limited, in part by the lack of established resources for its definition and measurement that incorporate the broader exposures encompassed by the exposome, including diet, behavior, and other endogenous and exogenous agents across life. The NIEHS PEGS Exposome Survey represents an attempt to develop a comprehensive instrument that measures an array of environmental exposures across life. In conjunction with the biorepository of DNA samples and the phenotype and lifestyle exposure data available from the earlier EPR Health and Exposure Survey, we believe the EPR Exposome Survey will be a powerful tool for exploring gene-environment interactions that can advance our understanding of complex determinants of health and disease across the life span. Questionnaire content was developed using resources such as the PhenX Toolkit, NHANES questionnaires, other NIEHS, NIH, CDC/ATSDR forms, validated scales (e.g., Cohen Perceived Stress Scale), and forms from other large cohort studies. The survey was first offered to participants beginning in early 2017, and over 3,000 participants have completed the survey to date. Administration of the survey occurs in two parts. Part A (200 questions) focuses on external exposures, including chemical and environmental exposures at home and work. Part B (200 questions) focuses on internal exposures, including medications, physical activity, stress, sleep, and diet. Data from the survey will help researchers develop hypotheses, design follow-up studies, and select appropriate participants for enrollment in the follow-up studies. Core Medical History Form: The Core Medical History Form is administered to PEGS participants visiting the NIEHS Clinical Research Unit (CRU). This form is used to collect medical history data. PEGS participants complete the Core Medical History form as part of their enrollment visit at the CRU, and update the form when they return to the CRU for research study visits. Data from the Core Medical History form is available to the PEGS to better characterize the PEGS population and enhance the PEGS as a resource for NIEHS researchers and collaborators. The Core Medical History Form includes questions on the following topics: 1) Current or Past Diseases and Medical Conditions; 2) Smoking History; 3) Alcohol History; 4) Sleep; and 5) Surgical History. The PEGS is unique in that it is a linked DNA registry. DNA samples are coded with personal identification numbers (PINs) that are linked back to registrants' identities, survey responses about their health and environmental exposures, and contact information. This gives researchers the ability to ask registrants to come back and participate in a wide variety of voluntary follow-up studies based on their genetic, health, or exposure profiles. We ask some PEGS participants to join other studies with the purpose of studying how genetic differences affect our bodies, or whether these differences are involved in certain conditions. We also ask some participants to join follow-up studies based on health or exposure history, responses to PEGS surveys, or other factors. This project involves research on human coronavirus, novel coronavirus, COVID-19, Severe Acute Respiratory Syndrome coronavirus disease, SARS coronavirus, SARS-coronavirus-2, SARS-cov-2, SARS-cov2, SARS-related coronavirus 2, Severe acute respiratory syndrome coronavirus 2, SARS-Associated Coronavirus, SARS-cov, or SARS-Related Coronavirus.