Queen Mary University study says genome sequencing can diagnose rare diseases

DNA sequence. Pic: National Human Genome Research Institute

The NHS could rapidly diagnose rare diseases using whole genome sequencing, possibly saving lives and millions of pounds, a study by Tower Hamlets-based Queen Mary University of London study has found.

The research, carried out with Genomics England, showed that the sequencing technique was more effective than usual genetic testing methods, helping to identify rare diseases in a quarter of the study’s participants. Given the usual treatment costs for patients of rare diseases, this discovery could save the NHS millions.

The pilot study involved 4600 participants from 2138 families, looking at known sufferers of rare diseases and their immediate families. For some participants, the study helped to reassure family members they had not passed on conditions to their children. For others, it ended decades of waiting for an accurate diagnosis.

In one instance, the study helped to prevent a further family death. Analysing the genome sequence of a four-month-old baby that had passed away due to an unknown condition, the researchers identified a severe metabolic disorder that caused an inability to intake vitamin B12 into his cells.

This allowed them to offer a predictive test to his younger brother just one week after his birth, who is now being treated with B12 injections on a weekly basis to stop the disease progressing.

The study also ended a seven-year search for a diagnosis in a 10-year-old girl. With multiple intensive care admissions and more than 307 hospital visits, her treatment had cost the NHS £356,571.

The diagnosis the study provided allowed the girl to receive a curative bone-marrow transplant at just a fifth of that price, whilst also analysing her siblings to rule out further risk.  

Queen Mary University of London. Pic: Reading Tom

Lead author, Professor Damian Smedley from Queen Mary told EastLondonLines: “Previous studies have tended to focus on particular areas of rare diseases. Here, we aimed to take on any NHS patient with a rare genetic disease, so it’s much bigger than any other worldwide studies.

“Already we’ve found new molecular diagnoses for 25% of the patients. Immediately, that’s peace of mind for them and their family.”

Highlighting his hope for the future of the study’s findings, he said: “We hope other countries start to adopt [whole genome sequencing]. It has already transformed the UK and the NHS.”

The UK government launched the 100,000 Genomes Project, which formed the basis of this study, in 2013, offering whole genome sequencing to people with undiagnosed rare diseases as a routine treatment by 2018.

Rare diseases remain a healthcare challenge both abroad and at home, affecting 6% of the population in western societies (around four million people in the UK).

One third of children with a rare disease die before their fifth birthday. This study, published in the New England Journal of Medicine, shows that whole genome sequencing could be pivotal in changing those figures.

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