Published 20 Aug 2022


The American Heart Association has released a statement on using polygenic risk scores in the prevention of cardiovascular disease (CVD). The statement highlights coronary artery disease as a particular example where PRSs are useful in assessing risk (for further reading on this, see Riveros-Mckay et al.).

Among adults, CVD is the leading contributor to years lost, whether due to disability or premature death. The AHA statement acknowledges that polygenic risk scores have an increasingly important role to play in preventing cardiovascular diseases, and profiled five cardiometabolic diseases; coronary artery disease, hypercholesterolemia, type 2 diabetes, atrial fibrillation, and venous thromboembolic disease.

We agree with their assertion that “incorporation of genetics into risk prediction framework offers the opportunity to refine risks, potentially earlier in life, toward the creation of earlier and tailored risk reduction strategies”. Furthermore, we agree that it is crucial to follow up on confirmation of high risk of disease with patients with clinical or genetic counselling, so that the patient can be guided on next steps and prevention.

We do also agree that there is work to be done on better inclusivity in the data we, and others, use to develop our PRS algorithms. Most biobanks are derived from a single population, for example UK Biobank is made up of those from European ancestry. This means that while scores produced for people from other non-European ancestries will still be helpful, they will not be as accurate.

The statement goes on to conclude that the evidence points towards large groups of people with high risk of cardiovascular disease due to cumulative risk of many genetic variants, and that using PRS in clinical practice is becoming increasingly appropriate, as knowledge gaps are narrowing. We concur with this, and are eager to contribute to helping these high-risk individuals become visible to the healthcare system.