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Epidemiology Evidence for Health Effects of 150 per- and Polyfluoroalkyl Substances: A Systematic Evidence Map

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Abstract Background: Per- and polyfluoroalkyl substances (PFAS) comprise a large class of chemicals with widespread use and persistence in the environment and in humans; however, most of the epidemiology research has focused on a small subset. Objectives: The aim of this systematic evidence map (SEM) is to summarize the epidemiology evidence on approximately 150 lesser studied PFAS prioritized by the EPA for tiered toxicity testing, facilitating interpretation of those results as well as identification of priorities for risk assessment and data gaps for future research. Methods: The Populations, Exposure, Comparators, and Outcomes (PECO) criteria were intentionally broad to identify studies of any health effects in humans with information on associations with exposure to the identified PFAS. Systematic review methods were used to search for literature that was screened using machine-learning software and manual review. Studies meeting the PECO criteria underwent quantitative data extraction and evaluation for risk of bias and sensitivity using the Integrated Risk Information System approach. Results: 193 epidemiology studies were identified, which included information on 15 of the PFAS of interest. The most commonly studied health effect categories were metabolic (¿¿=37), endocrine (¿¿=30), cardiovascular (30), female reproductive (¿¿=27), developmental (¿¿=26), immune (¿¿=22), nervous (¿¿=21), male reproductive (¿¿=14), cancer (¿¿=12), and urinary (¿¿=11) effects. In study evaluation, 120 (62%) studies were considered High/Medium confidence for at least one outcome. Discussion: Most of the PFAS in this SEM have little to no epidemiology data available to inform evaluation of potential health effects. Although exposure to the 15 PFAS that had data was fairly low in most studies, these less-studied PFAS may be used as replacements for “legacy” PFAS, leading to potentially greater exposure. It is impractical to generate epidemiology evidence to fill the existing gaps for all potentially relevant PFAS. This SEM highlights some of the important research gaps that currently exist.

Impact/Purpose

This SEM provides a resource for identifying existing epidemiology studies of PFAS exposure and health effects. The original impetus for its development was to summarize the available evidence for a subset of PFAS that are undergoing in vitro high throughout toxicity and toxicokinetic testing at the EPA. The data contained herein will enhance interpretation of those testing results, but there are a variety of additional potential uses. For researchers, it can assist in identifying data gaps for future research. For regulatory and other agencies conducting health assessments, it can be used to prioritize PFAS for further review/evaluation of toxicity. The SEM also allows for determination of the consistency of results within and across PFAS. This is informative for efforts to look at similarity or difference in associated health effects across PFAS, which is relevant to evaluating PFAS as a class. 

Citation

Radke-Farabaugh, E., Michael Wright, K. Christensen, C. Lin, A. Goldstone, C. Lemeris, AND K. Thayer. Epidemiology Evidence for Health Effects of 150 per- and Polyfluoroalkyl Substances: A Systematic Evidence Map. National Institute of Environmental Health Sciences (NIEHS), Research Triangle Park, NC, 130(9):096003, (2022). [DOI: 10.1289/EHP11185]

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  • https://ehp.niehs.nih.gov/doi/10.1289/EHP11185
DOI: Epidemiology Evidence for Health Effects of 150 per- and Polyfluoroalkyl Substances: A Systematic Evidence Map
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Last updated on January 29, 2025
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