Skip to main content
Premium Trial:

Request an Annual Quote

UK Researchers Aim to Discern New Polygenic Risk Scores from 5 Million Genotypes


NEW YORK – The UK has embarked on a new public health project that will genotype and collect information from 5 million participants to obtain data to identify new polygenic risk scores for a host of diseases.

The effort, called Our Future Health, has been described by organizers as the UK's "largest health research program" and builds on earlier initiatives such as the UK Biobank. The program is recruiting participants through partnerships with the National Health Service and other entities. Illumina has been tapped to supply Our Future Health with arrays, and Eurofins Genomics will carry out the genotyping via a newly established UK facility.

"The UK is uniquely placed to deliver this program as it has an exceptional track record in population research," said Andrew Roddam, CEO of Our Future Health. He cited "a critical mass of outstanding research groups" as well as a public that is largely willing to take part in such studies as factors supporting the program. Combined with the participation of the UK National Health Service in Our Future Health, researchers will be able to access electronic health records and recruit participants "at a size and scale unparalleled elsewhere in the world," he said.

Our Future Health is registered as a charity in the UK, and is supported by funding from multiple sources, including an initial amount of £79 million (about $104 million) from UK Research and Innovation, a government-funded body that supports science and research. The investment was made as part of the UK government's Industrial Strategy, announced in 2019. In January, Our Future Health got an additional £100 million from a number of companies, including Illumina, Thermo Fisher Scientific, Roche, GlaxoSmithKline, Janssen, AstraZeneca, and Amgen, among several others.

The UK National Health Service's Artificial Intelligence Laboratory is also contributing to Our Future Health, specifically to support the development of polygenic risk scores and the reporting back of scores to volunteers enrolled in the program, according to the charity.

A particular focus is to recruit participants from all of the UK's ethnic communities, described in its 2021 research protocol as White British, Black British, and Asian. According to the 2011 UK census, about 86 percent of respondents identified as White British, 8 percent as Asian, and 3 percent as Black British, and Our Future Health wants to collect data from all of these communities in order to create scores that will benefit everyone in the UK. As of 2020, the UK had a total population of about 67 million people.

According to Roddam, the program plans to produce scores for common conditions such as cancer, Alzheimer's disease, arthritis, diabetes, and stroke. A major focus will be crafting scores for identifying diseases like cancer and heart disease before they become symptomatic.

According to Roddam, the program will work with researchers to derive and update polygenic risk scores and, when possible, will test and implement the scores within the program. Our Future Health plans to test out different approaches of delivering health-related information to participants, including the scores, in consultation with the NHS, he added. The scores can also be further studied by registered researchers who access the Our Future Health cohort, and participants at high risk of disease might be recontacted and become good candidates for studies focused on early detection.

Roddam noted that Our Future Health stands on the work accomplished by previous efforts like UK Biobank or the Million Women Study, which enrolled 1.3 million women in England and Scotland. What sets Our Future Health apart is its scale of 5 million participants, Roddam said.

"This means there will be sufficient cases to realize its potential for research into the causes of disease much earlier, which will maximize the more immediate value of the cohort," he said.

Our Future Health is already collecting samples from participants via the NHS, and expects to begin pilot studies later this year. In addition to supplying a blood sample for genotyping, participants will also be asked to complete an online questionnaire about their lifestyle and medical history.

Polygenic risk score data will be reported back to participants after that, he said. "Feedback will be restricted to clinically actionable integrated risk scores only in the first instance, following consultation with the NHS," Roddam stressed.

It is unclear how much Our Future Health will spend on genotyping or analysis. The charity has published an estimated total value of £212 million for biological sample processing, genotyping including chip design, and storage, which includes £56 million for the design and manufacturing of the assay, as well as £26 million for genotyping services. Roddam said that these amounts were "indicative only."

According to an Illumina spokesperson, the company will employ a 48-sample BeadChip with approximately 900,000 markers for the genotyping component of Our Future Health. The backbone of the content will be based on the company's Global Screening Array, but will include additional markets relevant for improved imputation performance in the main UK ethnicities, the spokesperson said.

The array will also leverage new chemistry, called Infinium Ex, which "allows for unprecedented array density or sample throughput" and was designed with large population genetics projects like Our Future Health in mind, the spokesperson added.

Arrays have continued to power large population studies globally, even a decade after some thought that next-generation sequencing would eventually supplant the technology. According to the company, they are particularly well positioned to help achieve the aims of Our Future Health.

"Infinium microarrays have continued to be relevant due to the improvements in imputation reference panels driven by next-generation sequencing," the spokesperson noted. "The low price point, data quality, and simplicity of data handling makes it the perfect tool for certain genomic applications such as polygenic risk scores."

Illumina has experience with such large-scale projects. The company also provided chips to genotype a million samples for the US National Institutes of Health's All of Us research program. Illumina also provided arrays to genotype 300,000 samples in the Estonian Biobank, and 300,000 cases and 300,000 controls as part of the US National Cancer Institute's Confluence project.

Eurofins Genomics has been selected to undertake the genotyping of the 5 million samples, and said in a statement this month that it will set up a new laboratory in the UK as part of the project. Eurofins, an Illumina certified service provider, is headquartered in Ebersberg, east of Munich, Germany. A company spokesperson said this week that the firm is in the process of setting up its UK site.