Genetic risk scores: towards more precise and preventive healthcare

Common diseases such as heart attacks, cancer and blood clots cause significant suffering and high costs to society. Yet healthcare lacks the tools to identify people at high risk at an early stage. Using genetic information – particularly polygenic risk scores – can help change this.

The Clinical Academic Group for Genetic Risk Assessment works to introduce polygenic risk scores into Swedish healthcare and to develop more personalised prevention and treatment.

What are polygenic risk scores?

Unlike traditional genetic analyses, which look for single rare mutations, polygenic risk scores are based on information from hundreds or thousands of common genetic variants. Each variant contributes a small part of the overall risk, but together they can reveal a person's inherited vulnerability to various diseases – regardless of family history.

Our mission and goals

Our aim is to introduce genetic risk scores into Swedish healthcare and to develop more personalised prevention and treatment. We work to develop, evaluate and implement polygenic risk scores in clinical practice.

We focus on diseases where international research has made substantial progress and where risk scores may provide clear clinical value.

We work to:

• Evaluate the clinical use of polygenic risk scores for selected diseases
• Develop workflows and decision-support tools for healthcare staff
• Test how risk information can be integrated into genetic assessment, screening and treatment
• Conduct clinical pilot studies in Swedish healthcare settings
• Carry out health-economic analyses of the cost-effectiveness of introducing polygenic risk scores
• Examine ethical aspects and develop educational materials and tools for healthcare staff and patients

What does the project involve?

The Clinical Academic Group for Genetic Risk Assessment brings together expertise in medical genetics, genomics, biostatistics, pharmacogenomics, health economics, cardiology, psychiatry, cancer care and several other healthcare fields. Over the course of four years, we will investigate how polygenic risk scores can be used in different disease areas within healthcare.

Breast cancer

Polygenic risk scores are already used internationally to identify women with an increased risk. In Sweden, we will assess whether risk scores can be integrated into clinical genetic assessment. Women with a high genetic risk may be offered earlier and more intensive screening programmes, which increases the chances of early detection and improves prognosis.

Cardiomyopathies

A quarter of patients today receive a molecular diagnosis based on a specific mutation. For many, the disease is driven by the combined effect of many genetic variants. By identifying these high-risk patients early, healthcare providers can monitor and treat them more actively, thereby improving their prognosis.

Hypercholesterolaemia and coronary artery disease

There are already established polygenic risk scores for coronary artery disease. This information can be used for more personalised treatment, for example when deciding how and when to prescribe cholesterol‑lowering medication.

Personalised use of medication

Genes also affect how we metabolise and respond to different medicines. For example, they can influence:

• Which medicines work best for an individual
• What dosage is most suitable
• Which medicines should be avoided due to the risk of side effects

This is particularly relevant in psychiatry, where treatment responses vary greatly, and in contraceptive use, where the risk of blood clots, depression or breast cancer differs between individuals.

Why is this important and how does it benefit patients?

Common diseases such as cancer, cardiovascular disease and mental illness affect about a quarter of Europe’s adult population. This leads to significant suffering, extensive sick leave and high healthcare costs.

Despite this, healthcare today lacks effective tools to identify individuals at high risk early enough. By using genetic risk scores, healthcare may detect vulnerability before disease develops and thereby:

• Introduce preventive measures at an early stage
• Adapt and optimise treatment according to the individual’s genetic profile
• Reduce the risk of side effects through more suitable medication choices
• Use healthcare resources more efficiently
• Provide patients with better conditions for a healthier life and improved quality of life

For patients, this means more predictable and personalised care. Because genetic risk scores are based on variations we are born with, the test only needs to be performed once. The information can then be used throughout life to support screening, follow-up and treatment decisions.