A collaboration between Viapath, NIHR Guy’s and St Thomas’ Biomedical Research Centre has created the world’s first nanopore-based genetic sequencing test for Huntington’s disease, now available at Guy’s and St Thomas’ hospital. If successful, the test could cut waiting time for complicated Huntington’s cases, and could have big ramifications for other disorders in the future.

Huntington’s, a neurodegenerative disorder which prevents parts of the brain working correctly, is usually fatal within 20 years. Those with symptoms of the illness currently have to wait up to four weeks for the results of a blood test.

Oxford Nanopore MinION sequencing devices were used for the new tests, passing internationally-recognised standards for use in clinical laboratories for the first time, and providing proof of principle that the technology can be used in the NHS.

Consultant clinical geneticist Dr Deborah Ruddy, working 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.”