Future path3 min read
Polygenic risk scores
PRS
A polygenic risk score uses statistics to estimate how the collection of a person’s genetic variants affects their risk of a particular disease. The result is a probability, not a certainty, and health professionals do not yet use these scores routinely because there are no guidelines for practice.
These scores show associations, not a causal relationship, and the common diseases they are calculated for are often tied to environmental factors. In 2024 the NHGRI announced work to improve the scores for diverse populations in ten conditions, including breast cancer, prostate cancer, chronic kidney disease, coronary heart disease, asthma and diabetes; the first look covered 2,500 participants, with the research to expand to 25,000.
The accuracy and usefulness of these scores may be limited to people of European ancestry, because the genetic databases used to calculate them over-represent them. The NHGRI describes improving them for diverse groups as an important step towards routine use in the clinic, meaning that this use has not yet been achieved.
- In widespread clinical use
- Approved for specific uses
- In clinical trials
- Preclinical
- Concept
Tested in research studies on human participants, and not used routinely in practice because there are no guidelines for it.
- Estimating the risk of common diseases such as coronary heart disease and breast cancerIn clinical trials
The NHGRI gives them as examples, and the result remains a probability, not a certainty.1
- Routine use in the clinic
Not yet available; there are no practice guidelines.1
Status last checked: · What the maturity levels mean
What is this path?
A polygenic risk score is one way people can learn their risk of developing a disease.
It uses statistics to estimate how a person's set of genetic variants affects their risk of developing it, and its result always remains a probability, not a certainty.
The common diseases these scores are calculated for are often tied to environmental factors.
Where does the research stand?
In February 2024 the NHGRI announced work to improve these scores for diverse populations; the first look covered 2,500 participants, with the research to expand to 25,000 participants.
The conditions covered by the work include breast cancer, prostate cancer, chronic kidney disease, coronary heart disease, asthma and diabetes.
What separates it from clinical use?
Specialists do not yet use them routinely because there are no practice guidelines.
They show associations, not a causal relationship; see Correlation and causation.
Their accuracy and usefulness may be limited to people of European ancestry, because the databases used to calculate them over-represent them.
Common questions
If my score is high, will I definitely develop the disease?
No; these scores are probabilities, not certainties, and they show an association, not causation, and common diseases are often tied to environmental factors. The doctor or genetics specialist decides whether any genetic test is suitable for you.1
Questions for your doctor
- Is there a genetic test suitable for my condition or family history?
- How do I understand a probabilistic result like this, and what can I do to reduce my risk?
References
- 1NHGRI (NIH). Polygenic Risk Scores. www.genome.gov/Health/Genomics-and-Medicine/Polygenic-risk-scoresHealth agencies & guidelines · Accessed 2026-10-08
- 2NHGRI (NIH). Researchers optimize genetic tests for diverse populations to tackle health disparities. www.genome.gov/news/news-release/researchers-optimize-genetic-tests-for-diverse-populations-to-tackle-health-disparitiesHealth agencies & guidelines · Accessed 2026-10-08
Review status: Edited content · Last updated:
Change log
- — Page created.
Educational content only — no diagnosis, and no substitute for a clinician.