A patient is informed by the Occupational Safety and Health Administration that factory products they have been working with for at least 10 years contain high levels of perfluoroalkyl and polyfluoroalkyl substances (PFAS). After searching for information online, the patient becomes distressed about the potential health effects associated with exposure to these chemicals and asks their primary care clinician to test for PFAS exposure. Should the patient be tested?
Testing is available for a number of PFAS and may be indicated, but with some reservations.
Shared decision-making between physician and patient will generate information that can be used to develop a plan for managing risk.
PFAS: UBIQUITOUS WITH POTENTIAL HEALTH CONSEQUENCES
PFAS encompass thousands of synthetic chemicals used by numerous industries and in consumer goods for their desirable qualities, including nonstick properties and resistance to heat, water, stains, and oils.1 They are often referred to as “forever chemicals” because they do not degrade readily in the environment and are not easily metabolized or eliminated from the human body. The presence of these substances in our air, water, food, and consumer goods suggests a high frequency of human exposure.1 A growing body of literature shows an association between exposure to PFAS and several adverse health effects in humans.
An independent panel of public health scientists (C8 Science Panel) was established to study the impact of exposure on human health after prolonged community PFAS contamination in the Mid-Ohio Valley.2 The panel determined a probable link between PFAS exposure and onset of kidney cancer, testicular cancer, thyroid disease, ulcerative colitis, clinically high cholesterol, and gestational hypertension. Recent literature has corroborated and expanded upon the C8 Panel’s findings. In particular, prolonged PFAS exposure has been strongly associated with development of certain cancers (eg, kidney, thyroid, and testicular); dyslipidemia; alterations in thyroid, liver, and renal function; and decreased vaccine antibody response.3–7 Reproductive effects such as decreased male and female fertility, preeclampsia in pregnancy, and decreases in birth weight have also been associated with exposure. PFAS exposure may adversely affect levels of uric acid, thyroid-stimulating hormone, free triiodothyronine and thyroxine, total triiodothyronine and thyroxine, aspartate aminotransferase, alanine aminotransferase, gamma glutamyltransferase, and total cholesterol.4
Notably, in January 2025, the state of Minnesota banned the sale of cookware and other products containing intentionally added PFAS8; several other states are expected to follow suit.
TESTING IS AVAILABLE, BUT WITH LIMITATIONS
Any motivated patient has the right to undergo PFAS blood testing, but it is also incumbent on the clinician to discuss with the patient the limitations of testing such as inconclusive results and uncertain guidelines.
Blood testing is available for up to 40 PFAS through US laboratories9; the most extensive testing is used primarily for workers in industries with high levels of PFAS exposure. Among the Clinical Laboratory Improvement Amendments–certified laboratories offering testing, Quest Diagnostics offers direct-to-consumer testing for $350 per sample for 9 PFAS that are among those most studied for potential human health effects: perfluorooctane sulfonic acid (PFOS; linear and branched), perfluorooctanoic acid (PFOA; linear and branched), perfluorononanoic acid (PFNA), perfluorohexanesulfonic acid (PFHxS), perfluorodecanoic acid (PFDA), perfluoroundecanoic acid (PFUnDA), and methylperfluorooctane sulfonamidoacetic acid (MeFOSAA).10 The financial cost of PFAS blood testing is typically borne by the patient.
PFAS contamination is widespread, test results may be inconclusive
PFAS are ubiquitous. Despite evidence that levels of the original “legacy” PFAS (eg, PFOS, PFOA) are decreasing in the environment as they are being phased out of manufacturing, biomonitoring data from the US National Health and Nutrition Examination Survey showed that during the period 2017 to March 2020, about 96% of adolescents (age 12–19), some of whom were born after PFAS manufacturing changes, had detectable levels of some PFAS in their blood.11
Further, a positive test does not establish that any current or future disease is due to PFAS exposure.
Consensus and guidelines lacking
We lack consensus and clinical guidelines regarding how to respond to specific blood PFAS concentrations. The National Academies of Science, Engineering, and Medicine have suggested a stratified response to blood test results5:
Cumulative PFAS levels under 2 ng/mL are not expected to exert negative health effects
Levels between 2 and 20 ng/mL indicate a potential for developing adverse health effects, and
Any value above 20 ng/mL would demonstrate an increased risk for these effects.
Other experts reject the notion that any level of PFAS in the bloodstream is “safe.” Accordingly, the US Centers for Disease Control and Prevention and the Agency for Toxic Substances and Disease Registry have not developed recommendations for management based on PFAS blood levels, but encourage clinicians to use existing standards of care and promote mitigation measures wherever possible.6
RESPONDING TO TEST RESULTS
A negative test will reassure the patient. For example, if a patient has been alerted by the Occupational Safety and Health Administration or the Environmental Protection Agency regarding concern about a specific PFAS, a nondetectable level of that chemical in the blood would reassure them that their risk of illness due to PFAS exposure does not exceed that of the general population.
For patients who test positive for 1 or more PFAS, there are several appropriate actions:
Remind the patient that a positive test does not establish that any current or future disease is due to PFAS exposure
Assess the patient’s most recent metabolic, liver, renal, and thyroid function tests; while normal tests do not exclude the possibility of future PFAS toxicity, they at least reassure the patient that current function is normal
Implement a strategy to reduce exposure, including limiting occupational exposures when evident and replacing or avoiding worn nonstick pans and other household items containing PFAS such as certain personal cosmetics, contact lenses, cleaning supplies, clothing, carpets, and paints.
Several states are moving to restrict or eliminate PFAS from consumer goods as much as possible, and several types of filtration devices are certified for PFAS removal from drinking water. It is advisable to avoid food products served in grease-resistant fast-food wrappings and containers, as these commonly contain PFAS.5,12
Repeat testing can be performed after 1 to 2 years to assess the efficacy of exposure reduction measures. If the blood PFAS levels have decreased or plateaued after the period of exposure mitigation, the patient can be reassured that their exposure mitigation strategies have been effective, lowering their potential for PFAS-related adverse health effects. If the PFAS levels have increased, mitigation efforts should be reviewed and intensified if possible.
A physical examination and further screening for thyroid, kidney, and testicular cancer can be considered on a case-by-case basis.
AWARENESS NEEDED
PFAS, also known as “forever chemicals,” are ubiquitous and pose multiple health risks. Increased attention to these chemicals by the general public, scientific community, and worldwide governments will help generate discussion between patients and clinicians regarding PFAS exposures, associated health risks, and ways to mitigate further exposure. Clinicians who are aware of the potential benefits and limitations of blood PFAS testing will be able to make informed decisions with their patients about which screening and mitigation strategies to pursue.
DISCLOSURES
The authors report no relevant financial relationships which, in the context of their contributions, could be perceived as a potential conflict of interest.
Acknowledgments
This work was supported in part by the National Institutes of Health Sciences grants ES033815, ES036135, and ES032712 (Dr. Vasiliou) and ES029052 (Philip Zucarro).
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