
A hundred people undergoing treatment at a UK hospital are to get their DNA analysed in a pioneering trial.
Around 85,000 people with rare disorders in the UK have already had their genomes sequenced through the National Health Service as part of the 100,000 Genomes Project. Now, University College Hospital in London plans to invite around 100 people attending its blood pressure clinic to undergo genetic analysis.
The trial aims to test how useful such analysis might be in a busy, hospital environment, says Reecha Sofat of University College London. The data may also inform future drug development.
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Sofat says that, currently, she can rarely tell her hypertension patients why they have high blood pressure, but genomics might one day change this.
More than 500 individual genetic variants have previously been pinpointed as contributing to high blood pressure. A big part of the trial will be seeing whether it makes any difference to know what combination of these variants someone has. If a person is told they have a high genetic risk for hypertension, for instance, will they be better at taking their medicine? It is also hoped that the programme could help clinicians provide more tailored treatment.
Although the trial is small, the team wants to see if the approach could scale up to work in a hospital that sees more than a million patients a year.
One important benefit of doing genetic testing in a hospital in an ethnically diverse city such as London is that it could start to address the fact that population-wide genetic studies have largely involved people who are white and of European descent.
To keep costs down, the trial will only look at specific gene variants, an approach that is cheaper than sequencing and analysing the whole genome. But the NHS is also looking into offering full genome sequencing for volunteers, providing they agree to share their data with researchers.
The UK isn’t the only country exploring the use of genetic analysis for health. In Finland, around 3400 volunteers will soon be told via a secure web portal if they have a greater-than‑average risk of developing heart disease, type 2 diabetes or venous thromboembolism – the formation of a blood clot in a vein.
“We selected these three diseases because they are preventable and actionable,” says Heidi Marjonen at the National Institute for Health and Welfare in Helsinki.
Estonia is running two trials on polygenic risk scores, which are percentages that indicate a person’s chance of developing a condition compared with the population average. The country is exploring how they can be used to build a national programme of personalised medicine.