TAIPEI, TAIWAN, Sep.30, 2022 - The human genome project was completed in 2003, generating the first sequence of the human genome. Scientists are able to discover human biology and improve the practice of medicine. Thanks to large-scale genomics research, we now have a better understanding of the causes of the disease and the treatment. Now researchers can understand the role that genetics plays in diseases across different populations.
Nowadays, genetic testing to determine the risk for single-mutation disease is accurate and timely. However, determining the risk for complex diseases, which can be caused by hundreds to thousands of genetic variants, remains challenging. A "polygenic risk score" is one way by which people can learn about their risk of developing a disease based on the total number of changes in their genes related to the disease.
What is a polygenic risk score?
Your genes affect how likely you are to get many diseases, including cancer. Additional factors, such as the environment and behaviors, also play a significant role. We are all different from others because of diverse versions of our genes. However, some of the genes are associated with disease risk. A polygenic risk score combines the different versions of many genes you have that are related to a specific disease.
Why is a polygenic risk score important to human health?
Polygenic risk scores provide a measurement of how you will get the disease risk compared with others due to your genes. It provides physicians with a precise understanding of their patient’s genetic risk of complex diseases, allowing for early detection of personalized intervention strategies. However, polygenic risk scores didn’t show exactly the timeframe or baseline for the progression of a disease. A young man and an older man might not have the same polygenic risk score. They will have different lifetime risks of developing the disease. It is essential to know that a polygenic risk score only shows the correlation, not causation.
Polygenic risk score for disease prediction
To build a comprehensive dataset and support the diversity of genomics data, scientists need to collect as many population datasets as possible, such as Asians and Africans, to improve the accuracy of the scores. Initiatives and researchers are working on generating polygenic risk scores. For instance, the Taiwan Precision Medicine Initiative (TPMI) partnered with Thermo Fisher Scientific to genotype 1 million Taiwanese people and develop polygenic risk scores for numerous common diseases. A paper published recently in the Journal of the American College of Cardiology successfully used a polygenic risk score to predict coronary artery disease and identify patients with high risks for developing sudden cardiac death.
The future of the polygenic risk score
Although there are still no guidelines for polygenic risk scores, some healthcare and direct-to-consumer companies have already generated their own polygenic risk scores for their patients and consumers as an important tool to guide healthcare decisions. Understanding genetic risk using polygenic risk scores can help people predict their risk of some diseases and make them aware of the need to adopt a healthier lifestyle.
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