Polygenic risk scores (PRS) are calculated from genetic variants associated with diseases, providing an estimate of an individual's genetic risk. While PRS have been validated in research studies, their clinical utility remains uncertain. PRS are most useful in populations with a higher prior probability of disease, such as early-stage disease cases, for diagnosis or treatment decisions. However, PRS have limited discriminative ability in the general population and face challenges in translating PRS from a percentile to a lifetime risk. PRS are also less applicable to non-European ancestry due to limited genetic data and potential biases in reference populations.
PRS can be used to predict disease risk, but their accuracy is limited by factors such as incomplete genetic data, environmental influences, and potential biases in data collection. PRS have shown promise in predicting disease risk for conditions like cardiovascular disease, type 2 diabetes, breast cancer, and schizophrenia. However, their clinical implementation requires further research to improve predictive accuracy and address issues of interpretation and application across diverse populations.
PRS can also be used in treatment decisions, particularly in pharmacogenetics, where genetic variants affect drug response. While PRS have limited utility in predicting treatment outcomes for psychiatric disorders, they may help guide treatment choices by identifying individuals at higher risk. PRS can also refine the penetrance of high-risk genetic variants, influencing clinical decision-making in conditions like breast cancer and schizophrenia.
Direct-to-consumer genetic testing companies offer PRS, but their accuracy and generalizability need validation. The integration of PRS into clinical practice requires further research, ethical considerations, and collaboration between researchers and clinicians. While PRS have potential in improving disease prediction and treatment, their clinical implementation remains a challenge, particularly in diverse populations. Overall, PRS are a promising tool in polygenic medicine, but their full potential requires continued research and development.Polygenic risk scores (PRS) are calculated from genetic variants associated with diseases, providing an estimate of an individual's genetic risk. While PRS have been validated in research studies, their clinical utility remains uncertain. PRS are most useful in populations with a higher prior probability of disease, such as early-stage disease cases, for diagnosis or treatment decisions. However, PRS have limited discriminative ability in the general population and face challenges in translating PRS from a percentile to a lifetime risk. PRS are also less applicable to non-European ancestry due to limited genetic data and potential biases in reference populations.
PRS can be used to predict disease risk, but their accuracy is limited by factors such as incomplete genetic data, environmental influences, and potential biases in data collection. PRS have shown promise in predicting disease risk for conditions like cardiovascular disease, type 2 diabetes, breast cancer, and schizophrenia. However, their clinical implementation requires further research to improve predictive accuracy and address issues of interpretation and application across diverse populations.
PRS can also be used in treatment decisions, particularly in pharmacogenetics, where genetic variants affect drug response. While PRS have limited utility in predicting treatment outcomes for psychiatric disorders, they may help guide treatment choices by identifying individuals at higher risk. PRS can also refine the penetrance of high-risk genetic variants, influencing clinical decision-making in conditions like breast cancer and schizophrenia.
Direct-to-consumer genetic testing companies offer PRS, but their accuracy and generalizability need validation. The integration of PRS into clinical practice requires further research, ethical considerations, and collaboration between researchers and clinicians. While PRS have potential in improving disease prediction and treatment, their clinical implementation remains a challenge, particularly in diverse populations. Overall, PRS are a promising tool in polygenic medicine, but their full potential requires continued research and development.