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Polygenic Risk Scores: What They Predict and What They Do Not

What a polygenic risk score is, what it can predict, why it works less well outside European-ancestry groups, and why it is not a diagnosis or a plan.

Content last updated . This page has not been medically reviewed.

What a polygenic risk score is

A polygenic risk score (PRS) is a statistical calculation that uses the presence or absence of many genomic variants to estimate a person's chance of developing a condition, without taking environmental or other factors into account. [1] Researchers find the variants with genome-wide association studies, which NHGRI says reveal correlation, not causation. [2] Common conditions such as heart disease and type 2 diabetes have no single genetic cause. They are influenced by many genes together with lifestyle and the environment. [3]

Evidence labels used here: established, promising but limited, mixed, insufficient evidence and marketing claim. See How We Label Evidence in Specialty Topics.

What a score tells you, and what it does not

  • It gives relative, not absolute, risk. NHGRI says a PRS can only explain relative risk and does not provide a baseline or timeframe. Two people with the same score but of age 22 and 98 have different lifetime risks. [4]
  • It shows correlation, not cause. [5]
  • It is one piece. The score ignores diet, smoking, medicines, family history and age. [1]
  • It is not a diagnosis. The FDA says genetic health risk tests do not determine a person's overall risk of developing a disease. [6]

What research shows

Population-level findings. A widely cited study built genome-wide scores for five common diseases. It found that 8.0% of the population for coronary artery disease, 6.1% for atrial fibrillation, 3.5% for type 2 diabetes, 3.2% for inflammatory bowel disease and 1.5% for breast cancer were at more than threefold increased risk. [7] Label: promising but limited. "Increased risk" refers to relative risk in a group, not a prediction for one person.

Added value over usual risk tools. In a Finnish biobank study, having a high score contributed 21% to 38% higher lifetime risk and earlier disease onset, and scores improved prediction for some diseases beyond clinical risk factors. The authors said the practical use of this information for screening or guiding lifestyle and medical interventions remains to be defined in further studies. [8] Label: promising but limited.

Clinical readiness. A 2020 review concluded that the clinical utility of PRS has yet to be established. [9] NHGRI says scores are not yet routinely used by health professionals because there are no guidelines for practice and methods are still being improved. [10] Label: insufficient evidence that using a PRS in routine care improves health outcomes. Proper evidence not found, in the sources read for this page, from randomized trials showing better health outcomes from acting on a consumer PRS. What was checked: NHGRI pages, FDA pages and peer-reviewed reviews and cohort analyses.

Who the scores work for

Most genomic studies have examined people of European ancestry, and NHGRI says accuracy may only be valid and useful for European ancestry populations at this point. [11] In an analysis of the first decade of polygenic-score studies, 67% of studies included only European-ancestry participants, and scores derived in European ancestry samples performed less well in non-European samples. [12] Another analysis found today's scores are several times more accurate in people of European ancestry than other ancestries, and warned that clinical use could widen health disparities. [13] See Ancestry and Population Applicability of Genetic Findings.

Why scores are hard to compare

There are many ways to build a PRS. A reporting framework from ClinGen and the PGS Catalog notes notable heterogeneity in how scores are applied and reported, which hinders the translation of PRSs into clinical care. [14] Treat any single score as one method's estimate, not a settled number.

Consumer claims

Be cautious with services that give you a "genetic risk score" for health, weight or longevity and then suggest a supplement or diet. Without outcome trials, such advice is a marketing claim. Related guides: Disease-Risk Prediction From Genetics, Raw Genetic Data Interpretation and Third-Party Analysis Services and Genetic Testing and Polygenic Risk Scores for Longevity. For genes and aging in general, the Longevity library has Genetics and Longevity.

Who should ask a professional first

A high score can cause worry, and a low score can create false reassurance. Anyone with a strong family history should ask a clinician or genetic counselor about clinical genetic testing, which is different from a PRS. This site cannot say what any person's score means.

Safety note

Do not change screening, medicines or diet because of a score. Continue recommended preventive care whatever a consumer result says.

Frequently asked questions

What is a polygenic risk score?

It is a statistical estimate based on many genomic variants that indicates how a person's genetic risk for a condition compares with others. [1][4]

Is a polygenic risk score a diagnosis?

No. It does not diagnose and does not include environment or other factors. [1]

Are polygenic risk scores accurate for everyone?

No. Most were developed from European-ancestry data and perform less well in other groups. [13]

Do doctors use polygenic risk scores routinely?

NHGRI says they are not yet routinely used because there are no guidelines for practice. [10]

Does a high score mean I will get the disease?

No. Scores are probabilities, not certainties, [15] and they show relative risk. [4]

References
  1. National Human Genome Research Institute, Talking Glossary: Polygenic Risk Score (PRS). Read 2026-10-22.
  2. National Human Genome Research Institute, Talking Glossary: Genome-Wide Association Studies (GWAS). Read 2026-10-22.
  3. MedlinePlus Genetics, What are complex or multifactorial disorders?. Read 2026-10-22.
  4. National Human Genome Research Institute, Polygenic Risk Scores. Read 2026-10-22.
  5. National Human Genome Research Institute, Polygenic Risk Scores (absolute vs relative). Read 2026-10-22.
  6. US FDA, Direct-to-Consumer Tests (genetic health risk tests). Read 2026-10-22.
  7. Khera AV et al. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nature Genetics 2018. PubMed. Read 2026-10-22.
  8. Mars N et al. Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers. Nature Medicine 2020. PubMed. Read 2026-10-22.
  9. Lewis CM, Vassos E. Polygenic risk scores: from research tools to clinical instruments. Genome Medicine 2020. PubMed. Read 2026-10-22.
  10. National Human Genome Research Institute, Polygenic Risk Scores (clinical use). Read 2026-10-22.
  11. National Human Genome Research Institute, Polygenic Risk Scores (ancestry). Read 2026-10-22.
  12. Duncan L et al. Analysis of polygenic risk score usage and performance in diverse human populations. Nature Communications 2019. PubMed. Read 2026-10-22.
  13. Martin AR et al. Clinical use of current polygenic risk scores may exacerbate health disparities. Nature Genetics 2019. PubMed. Read 2026-10-22.
  14. Wand H et al. Improving reporting standards for polygenic scores in risk prediction studies. Nature 2021. PubMed. Read 2026-10-22.
  15. National Human Genome Research Institute, Polygenic Risk Scores (probabilities). Read 2026-10-22.
Education, not medical advice. This page is for general information. It does not diagnose or treat any condition and is not a substitute for care from a qualified health professional. Natural does not automatically mean safe. Ask a clinician or pharmacist before changing your care, especially if you take medication, are pregnant or breastfeeding, or have a health condition.