Can genetic risk tests for Idiopathic Pulmonary Fibrosis work well for non-European people?
Current genetic tests for idiopathic pulmonary fibrosis rely heavily on data from European populations. A review of these tests in non-European individuals found that many genetic markers do not transfer well across different ancestries 1. While one specific gene variant is consistent across all groups, the overall predictive power of these tests drops significantly when applied to people outside of European ancestry.
What the research says
A study evaluating genetic variants in non-European individuals found that while some signals were partially replicated, there was limited transferability for many common risk variants 1. The research highlighted that ancestry-specific effects exist, meaning a genetic marker that predicts risk in one group may not work the same way in another 1. The MUC5B promoter variant was the only signal that remained dominant and consistent across all ancestries tested 1.
Researchers are actively working to improve these tools by including more diverse populations. A 2024 review noted that non-European ancestries are currently underrepresented in genetic studies, which creates a gap in our understanding of the disease for these groups 6. This lack of representation limits the ability to develop accurate genetic risk scores for people of African, Asian, or Hispanic descent 6.
Despite these limitations, polygenic risk scores can still help identify patients with rare genetic variants. Studies show that patients with a higher polygenic risk score are less likely to carry rare deleterious variants, and vice versa 2. This inverse relationship helps clinicians prioritize patients for further genetic testing, even if the common risk scores themselves are less accurate in non-European groups 2.
What to ask your doctor
- How does my ancestry affect the accuracy of genetic risk tests for pulmonary fibrosis?
- Are there specific genetic markers that apply to my background that are different from the standard European-based tests?
- What other factors, like telomere length or family history, should I consider if genetic testing is not reliable for my ethnicity?
- Can you explain the limitations of current genetic testing for my specific demographic?
This question is drawn from common patient questions about Pulmonology & Critical Care and answered using cited medical research. We do not provide individualized advice.