The world’s first genetic test for Huntington’s disease using nanopore-based DNA sequencing technology is now available at Guy’s and St Thomas’ NHS Foundation Trust. The test could drastically cut the waiting time for the most complicated cases of Huntington’s disease and has huge potential for other genetic disorders in the future.

The breakthrough was achieved by a collaboration between Viapath, our BRC and our academic partner King’s College London, and the London South Genomic Laboratory Hub.

The team used MinION DNA sequencing devices made by Oxford Nanopore Technologies that provide results much faster than traditional testing methods. They have shown for the first time that these sequencing devices can meet the stringent, internationally recognised standards for use in clinical laboratories, providing ‘proof-of-principle’ that this new technology can be used in the NHS.

The MinION is a small hand-held device that ‘decodes’ individual strands of DNA in real-time. It identifies any changes in the DNA sequence and then matches these to a library of known genetic sequences to detect presence of the genetic disorder. Most current technologies provide segments of DNA sequence that need to be analysed at a later date, which leads to a longer wait for results.

Huntington’s disease is an inherited neuro-degenerative disorder which stops parts of the brain working properly, with symptoms worsening over time, and is usually fatal within 20 years. Currently individuals with symptoms of Huntington’s disease have a blood test and can wait up to four weeks for the result.

Dr Deborah Ruddy, consultant clinical geneticist at Guy’s and St Thomas’, said: “This technology means that test results for people with symptoms of Huntington’s disease could be reduced to less than one week. We are now conducting research to determine where else this new technology could speed up diagnosis of other genetic disorders.

“Although there is no cure for Huntington’s disease as yet, treatment and support can help reduce some of the problems it causes. The technology can reduce the distress that patients and families experience whilst waiting for results, and also administer treatments and make support available to patients sooner than previously possible.”

This is the first time that Oxford Nanopore Technology has been used in an NHS laboratory accredited by the United Kingdom Accreditation Service (UKAS), which requires the technology to meet stringent quality control standards and produce reliable results on every sample.

Professor Jonathan Edgeworth, Viapath’s Medical Director, said:This advance was made possible through a research partnership involving front-line clinicians, academics and healthcare scientists. Everyone came together with a single vision to speed up the pathway moving scientific discovery and technological advance to the bed-side. This approach will be of immense benefit to patients. We are evaluating whether this technology can speed up diagnosis of a range of diseases including infections and cancers, to more rapidly identify best treatments based on individual DNA profiles.”

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