Creating a centralised database for genomic test data will help the UK match up patients with rare disease trials, a genetics expert has said.
Speaking during a panel session at the Healthcare Excellence Through Technology (HETT) North conference, which took place at the Manchester Central Convention Centre on 26 February, the British Society for Genetic Medicine chair Demetra Georgiou said that it is great to see a rise in genomic testing in the UK but adds that is should also be easily accessible to clinical teams so that they can invite patients to relevant studies
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She said: “We need to focus on bringing this data together into one place. This is very relevant in situations with rare diseases where perhaps only 20 people in the country have the condition. They can only benefit if we know about them and know how to contact them for a clinical trial or treatment. Otherwise, we will just have the data on one hand and have pharmaceuticals or interventions available on the other, but there is no other way to match that together.”
Georgiou went on to explain that the bringing together of this data is already underway as NHS England, Scotland, Wales and Northern Ireland are now starting to centralise their digital streams.
The ‘power of data’ in rare disease trials
Today, on Rare Disease Day (28 February), research led by Queen Mary University of London and published in Nature, identified genetic variants in 69 genes previously unknown to be associated with rare disease. In 30 of these cases, the new genetic findings were supported by existing experimental evidence, confirming the accuracy of the novel approach.
The strongest overall genetic and experimental evidence supported the newly discovered genetic variants for rare forms of diabetes, schizophrenia, epilepsy, Charcot-Marie-Tooth (CMT) disease, and anterior segment ocular abnormalities.
Dr Letizia Vestito, research fellow in computational genomics at Queen Mary University of London and joint first author of the study, said: “For many rare disease patients, receiving a diagnosis is the first crucial step toward appropriate care and treatment. By uncovering new disease-gene associations, our study aims to make a transformative impact, offering hope and tangible benefits to rare disease patients and their families.”
The researchers made this discovery by using an analytical framework for identifying the genetic causes of Mendelian diseases through rare variant gene burden analysis and applying it to the genetic records of 34,851 people and their family members (72,690 genomes in total) from the 100,000 Genomes Project, a groundbreaking project to map the genomes of people affected by rare disease and cancer.
Speaking about the 100,000 Genomes Project, Georgiou added: “We have had recent experience through Genomics England’s 100,000 genome project where patient data sets arrive in one place where correct phenotypic information is structured. This found that individuals, children specifically, with neurodevelopmental conditions that were previously undiagnosed have the very same variant seen across the genomes, showing that the variant is not that rare.
“This is something we had been sitting on for a while because we didn’t have that power of data and that project gave us that and I think that is where we could get to when we bring all that NHS genomic data together.”
Research is being conducted into whether conducting whole genome sequencing on newborns could assist in better diagnosis. Other studies globally are investigating whether sequencing newborns at birth could help close the diagnostic gap, including the Generation study in England, which aims to sequence the genomes of 100,000 newborns, integrating genomic data into healthcare. The Generation study, led by Genomics England in partnership with the NHS, focuses on more than 200 treatable conditions where early diagnosis could significantly impact health outcomes.
