Polygenic risk scores for common diseases to be offered by UK insurance industry

The British health insurance and healthcare company Bupa plans to offer an approach to people's genomic data that, it is claimed, can evaluate an individual's risk of developing seven common diseases.

DNA extracted from a person's saliva sample is analysed in a laboratory, to assess the risk of developing each health condition from the millions of common genetic variants present in the sample. For each condition – breast or prostate cancer, cardiovascular disease, type 2 diabetes, atrial fibrillation, high LDL cholesterol, high blood pressure and low bone density – the impact of these genetic variants is combined into a polygenic risk score with the help of machine learning. These polygenic scores are then integrated with other risk measures such as age, sex and ethnicity to calculate how likely a person is – relative to others in a given population, whose DNA has also been sequenced and studied – to develop each of the seven conditions. There are also risk factors, such as lifestyle, environment and family history, that do not figure directly in these calculations.

'Each of us will be at high risk for a few diseases because of our genetics, but neither we nor our doctors know which ones,' explained Professor Sir Peter Donnelly, co-founder and chief executive of Genomics plc, the company that developed these particular polygenic scores, to The Times. 'With genomic prevention we can now measure and understand those risks while a person is still healthy, years before any symptoms develop. This allows us to provide individuals with tailored advice on the steps they can take to live longer, healthier lives'.

This particular set of polygenic scores, marketed as Health Insights, is currently offered by a number of health insurers in the USA. Following a pilot study of 300 people, Bupa will be the first insurance company to offer these polygenic scores in the UK. The team involved is in the process of obtaining UK standards certification, and the polygenic scores are expected to be made available to women over 40 and men over 45 as part of the assessment of their health risks.

Polygenic scores do not diagnose conditions, nor are they able to indicate with certainty whether or not someone will develop a condition. They are different from conventional genetic testing for specific genetic variants that are known to be linked to specific disease – for example, people born with faulty BRCA1 or BRCA2 genes, who have an increased risk of developing cancers, such as breast, ovarian, prostate or pancreatic cancer. Former UK health minister Matt Hancock was thought by many to have misinterpreted this distinction in 2019 (see BioNews 992 and 1035).

An NHS study, called HEART, has assessed the possibility of integrating polygenic scores into risk assessments for heart disease as part of NHS health checks (see BioNews 1167, 1129 and 1089). That study found that about a quarter of participants showed significant changes in their heart disease risk, when a polygenic score developed by Genomics plc was considered alongside other factors such as BMI and smoking status. In contrast, a study conducted by a team at University College London found that polygenic scores perform poorly when used to predict common diseases such as heart disease or breast cancer (see BioNews 1212).

Separate research involving Genomics plc, and employing data from UK BioBank, used polygenic scores to investigate previously unidentified heart disease risk in UK populations (see BioNews 1257). Genomics plc has partnered with Our Future Health, a project investigating the potential use of polygenic scores in health screening programmes to aid in earlier diagnosis of treatable conditions (see BioNews 1165).

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The different approaches of the UK's largest genomics projects – including UK Biobank and Our Future Health – will be discussed at the free-to-attend online event Our Future Health, UK Biobank, Genomics England: Exploring the Impact, taking place online on Wednesday 30 April 2025.

Find out more and register here.