Researchers said the scoring system led to false positives and ‘performed poorly’ when predicting if a person would develop common diseases.
Polygenic risk scores help predict if a person will develop certain diseases based on their genetic make-up
A team led by University College London explored how risk scores perform alongside conventional screening methods. The team found that only 11% of people who develop disease are identified by polygenic risk scores, while 5% of those who do not fall ill are false positives. For breast cancer, the risk score identified only 10% of eventual cases, along with 12% of cases of coronary artery disease.
However researchers stressed that polygenic risk scores should not be confused with genetic testing for certain mutations, such as BRCA1 and BRCA2, which are vital in screening for breast and ovarian cancer. “They overlook the significant impact of epigenetic regulation and the environment on an individual’s overall health.
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