Study Questions Value of Genetic Risk Scores

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What’s known as the genome-wide polygenic score, or GPS, combines information from many thousands of genetic markers, each with only a minimal effect, to produce an overall assessment of disease risk based on an individual’s entire genetic background. While a recent publication claimed that the GPS could be used by doctors to identify patients at high risk of conditions such as heart disease, cancer, and diabetes, a new Annals of Human Genetics study casts doubt on these claims.

One example is a GPS for heart disease that appeared to have an accuracy of more than 80 percent in the earlier publication. After further investigation and taking patients’ age and sex into consideration, it had a much lower value, however. For other conditions, the GPS overlapped considerably in patients with the disease compared with controls.

“I think it’s a real problem that these tests are being promoted so enthusiastically, sometimes based on claims which simply don’t stand up under examination,” said study author Prof. David Curtis, of the UCL Genetics Institute in London. “I don’t see that they’re ready for clinical use yet and frankly I doubt that they ever will be.”

d.curtis@ucl.ac.uk

Clinical relevance of genome-wide polygenic score may be less than claimed

Additional Information

Link to Study: https://onlinelibrary.wiley.com/doi/10.1111/ahg.12302 

About Journal 

The Annals of Human Genetics is an international journal publishing rigorously peer-reviewed research. The principal aim of the Annals is to increase understanding of the causes and consequences of human genetic variation, particularly in relation to health, disease and evolution. In recent years it has become apparent that the study of population genetics is extremely relevant to molecular pathology. The interaction of these fields can greatly increase our understanding of the generation and maintenance of variation in the human genome.About Wiley

Wiley is a global leader in research and education. Our online scientific, technical, medical, and scholarly journals, and our digital learning, assessment, certification and student-lifecycle services and solutions help universities, academic societies, businesses, governments and individuals to achieve their academic and professional goals. For more than 200 years, we have delivered consistent performance to our stakeholders. The Company’s website can be accessed at www.wiley.com.

 

 

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