Polygenic Risk Scores and the Future of Genetic Risk Assessment

*The translation of this article in French and Portuguese has been made through machine translation and has not been edited yet. we apologise for any inaccuracies.

Could Polygenetic Risk Scores Be the Future of Risk Assessment and Disease Prevention?

In a recent study published in Nature Medicine, researchers developed and validated polygenic risk scores for six common diseases, which could assist physicians and patients when making medical decisions, risk assessment and disease prevention.

Advancements in medical technology and increasing amounts of genetic data have led to the development of polygenic risk scores (PRS) which can be used to estimate an individual’s genetic risk of developing various common diseases. Implementation of PRS in healthcare systems may improve disease prevention and could potentially be used to optimise the use of screening and preventative treatments and improve personalised care for patients. However, there are still many challenges to overcome before PRS can be clinically utilised for practical disease prevention. Below you will find the results from our monthly M3 Pulse survey, where we asked over 3,000 healthcare professionals globally for their opinions on genetic mapping and the use of polygenic risk scores.


Researchers from Brigham and Women’s Hospital, Veterans Affairs Boston Healthcare System, and Harvard Medical School developed and validated polygenic risk scores for the six common diseases listed below by using data from 36,423 Mass General Brigham Biobank participants. In addition, they developed a physician and patient information guide to support decision-making based on PRS results. The main challenges of implementing PRS have been how to practically incorporate PRS into the medical workflow and help physicians and patients understand and utilise the PRS results to best support the decision-making in their healthcare.

What is a Polygenic Risk Score and How Can it Support Disease Prevention?

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.
healthcare professionals around the world on risk assessment

M3 Pulse Results from over 3,000 healthcare professionals About PRS and the Future of Risk Assessments

Use of technology continues to grow in healthcare, especially in allowing healthcare professionals to make more accurate risk assessments and share more precise diagnoses. As mentioned above, looking at one genetic marker may not be clinically useful, but a calculation based on hundreds or thousands of these markers could empower patients to make meaningful health decisions, says Jason Vassy, MD*, the study’s lead author and a primary care doctor at Brigham and Women’s Hospital. As the technology develops, PRS will become a more prevalent topic around patient care for physicians and other healthcare professionals around the world.

To find out what our M3 panel members think about polygenic risk scores, we asked over 3,000 healthcare professionals in the US and across Europe what they believe to be the future of disease risk assessment and genetic mapping.

50 percent of the respondents believe that PRS will be helpful to map possible risks for disease. As much as 27 percent think that PRS is going to be key to the future of medicine. 13 percent of the participants have not yet heard about PRS and genetic mapping, while 7 percent have heard about it but don´t think it will be important for their area of practice and expertise.

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Do you think that polygenic risk scores could be the future of risk assessments and disease prevention? Share your thoughts in the comment section!

If you found these M3 Pulse results about polygenic risk scores interesting, you might want to check out previous results and opinions from thousands of physicians and healthcare professionals around the world. To participate in the next M3 Pulse survey and start receiving invitation to paid healthcare market research studies, make sure to register for free down below!

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Join the largest panel of healthcare professionals around the world If you are interested in polygenic risk scores, common complex disease and risk assessment , we want to hear about your experiences and opinions.

1 comment

  1. It is also my opinion that, due to the growing technology and the health care focus on eliminating genome related disease, PRS will be Supportive to MAP the possible risk for disease.

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