Recently, the focus on disease prevention and mitigation has become a major focus of healthcare institutions to reduce the strain of human disease on public health systems. By enabling healthcare professionals to intervene early with patients, guiding them towards healthier lifestyles and better personal choices, the hope is to prevent disease later in life and use healthcare resources more effectively.

Millions of people are currently living with an elevated risk for disease, without traditional warning signs or symptoms, simply due to subtle genetic variations in their DNA. With the development of polygenic risk score, it is now becoming possible to measure the effect of these genetic variations and potentially use the information to help prevent and mitigate disease years before any symptoms appears.

In the human genome, sometimes just one mutation can greatly increase a person’s risk for disease, such as cystic fibrosis for example. However, most common diseases are more complex, also called common complex diseases, which means that an individual’s genetic risk for a particular disease is not driven by one, but by millions of inherited genetic variations. These variants can be combined into a polygenic risk score that captures part of an individual’s susceptibility to disease, or likelihood of developing disease, thus can help identify people with elevated risk for common diseases. Risk assessment for common complex disease with the help of PRS and other factors such as lifestyle and environment may enable earlier intervention to prevent disease. However, the clinical utility of PRS has yet to be established due to a range of challenges. Read more about genetic risk assessment and polygenic risk score here.