Poor results for polygenic risk tests

Genetic screening based on multiple genes is “not very accurate” at predicting future disease, British researchers say today.

Polygenic risk scores are an attempt to predict an individual’s risk of a particular disease based on the combined effect of several genetic markers across the genome.

It is a different approach to genetic testing for single gene mutations, such as the BRCA1 and BRCA2 genes.

A study published today in BMJ Medicine by researchers led by Professor Aroon Hingorani at University College London, UK, found low predictive success for polygenic risk scores.

The team focused on 926 polygenic risk scores for 310 diseases including heart disease. Analysis of figures from an open-access database showed that this method identified only 11% of individuals who developed the disease.

Conversely, 5% of people who were predicted to develop the disease did not go on to develop it.

In terms of screening accuracy, the researchers estimate that several thousand people would need to be tested to guide statin prescriptions to prevent one single heart attack or stroke.

The authors point out that despite this inaccuracy, some companies are already selling polygenic risk score tests, and large scale research studies rely on it as a predictive tool.

“Strong claims have been made about the potential of polygenic risk scores in medicine, but our study shows that this is not justified,” said Professor Hingorani.

“We found that, when held to the same standards as employed for other tests in medicine, polygenic risk scores performed poorly for prediction and screening across a range of common diseases.”

Co-author Professor Sir Nick Wald added: “Our results build on evidence that indicates that polygenic risk scores do not have a role in public health screening programmes.”

Hingorani, A. D. et al. Performance of polygenic risk scores in screening, prediction, and risk stratification: secondary analysis of data in the Polygenic Score Catalog. BMJ Medicine 17 October 2023; doi: 10.1136/bmjmed-2023-000554

, , ,

Leave a Reply

Your email address will not be published. Required fields are marked *



Monthly Posts

Our Clients

Practice Index