Researchers have found that genetic risk scores can help predict the likelihood of an individual being diagnosed with autism. These scores, known as polygenic risk scores, calculate the overall genetic risk for a condition by summing up all associated genetic variants. They have been calculated for various traits and conditions in the U.K. Biobank study. For example, high polygenic risk scores for ulcerative colitis increase the odds of having the condition by more than fivefold. Additionally, polygenic risk scores can reveal causal relationships between traits and conditions.
While most genetic variants influencing autism risk are yet to be discovered, more data exists for schizophrenia. A study found that a high risk score for schizophrenia is associated with lower cognitive performance and cognitive decline. It was also observed that individuals with a high genetic risk for schizophrenia are more likely to smoke and struggle with quitting.
Polygenic risk scores can be calculated easily and inexpensively, making them a potential tool for predicting the likelihood of autism in individuals. Early detection of autism is crucial for improving lives, and polygenic risk scores at birth may aid parents and doctors in this regard. However, it is important to note that these scores are not always accurate, and ethical concerns arise from individuals knowing their chances of developing certain conditions. For conditions like Alzheimer’s disease with no good treatments, knowing one’s risk may lead to difficult decisions in the future. Furthermore, widespread genetic testing may worsen health inequities globally, as not everyone will have access to it.
Overall, while polygenic risk scores have the potential to prevent health problems, there are many challenges that need to be addressed, including ethical considerations, before they can be widely implemented. Tom Richardson, a research fellow at the University of Bristol, is studying the role of genetic and epigenetic epidemiology in this field.
Tom Richardson is research fellow in genetic and epigenetic epidemiology at the MRC Integrative Epidemiology Unit at the University of Bristol in the United Kingdom.
