10,000 new patients a year are treated by the Manchester Centre for Genomic Medicine (MCGM) for a range of rare diseases including cancers, developmental disorders and disabilities including hearing and vision loss – diagnosis can be time-consuming and invasive.

This is set to change as Manchester becomes the first NHS genetics service in the country to use genome DNA sequence analysis supported by SapientiaTM, a technology developed by UK company Congenica; a recent spinout from the Wellcome Trust Sanger Institute.
Congenica has just signed an agreement with the MCGM Laboratories at Central Manchester University Hospitals NHS Foundation Trust (CMFT) that will see Sapientia adopted into clinical service.

Professor Graeme Black, Professor of Genetics and Ophthalmology at CMFT, says the new approach to diagnosis will have an immediate benefit for patients and further improve the existing services. He says; “Understanding why some changes in DNA cause disease and others have no impact is really challenging. Until now much of the analysis has been manual and done on a step-by-step basis; being able to automate the process so that it is easier for clinicians to reach a diagnosis is really exciting. With Sapientia you can look at the whole genome and see more quickly which single genes are associated with disease; this offers the opportunity to offer a diagnosis to more people, more quickly.”

It is patients such as eleven-year-old Owen and his father Roy Boyes that will benefit from the new diagnostic tool. Owen’s parents were aware that their son had health issues at six months when he had difficulties breathing; later he had other problems and at school was labelled ‘lazy’. It wasn’t until he was eleven that testing of Owen’s whole genome revealed a mutation in one gene and gave the diagnosis of ‘Sotos Syndrome’ as the cause for his delayed development. His mother Rachel says that having a diagnosis means that Owen can now get the support with his education that he needs and says that early diagnosis could have saved them from the ‘patient odyssey’ of tests and more tests.

Professor Bill Newman, Owen’s clinician, says: “Whole genome testing of my patient found a change in one gene that explained his characteristic facial features and speech problems. We were able to give a clear answer to the family from a single blood test and it was done relatively smoothly and streamlined.

“Interestingly, testing also revealed that his father shared the same mutation and this information is helpful for other members of the family.

“Although whole genome sequencing is expensive, the cost is reducing and it is a lot more cost effective than the wide range of tests that we would otherwise need to do.”

Sapientia was developed by Congenica and validated as part of the Genomics England  100,000 Genomes Project, in which MCGM is also participating and the Manchester team could see the potential of this new diagnostic technology. Since May 2014, Congenica has been working closely with consultants and clinical scientists at MCGM to develop analytical tools that will look at the whole of a person’s genome and identify errors that may cause disease. Not all gene mutations are associated with illness and disabilities so the knowledge of the consultants is vital in identifying gene-disease relationships.

As part of its collaboration with the MCGM and with funding from the Corridor Growth Fund, Congenica has established business operations at the MedTECH Centre close the hospital.

Nick Lench, Chief Operating Officer at Congenica, said that the funding has had a major positive impact on the company’s development: “The Corridor Growth Fund has made it possible for us to employ two researchers to work with Professor Black and the MCGM team. This will allow us to translate exciting findings from our joint research into a robust diagnostic test suitable for use with patients.”

Keith Chantler, Executive Director of Industry and Wealth at Greater Manchester Academic Health Science Network, comments: “Congenica has brought its expertise to the northwest and is planning expansion that will create skilled job opportunities in this new field of medicine. Part of GM AHSN’s role is to support SMEs by providing bespoke advice and support to help them develop their innovative products, such as how to access facilities and funding. This next phase in genomic medicine will be one of enormous growth and Manchester is leading the way.”

The MCGM serves over six million people across the northwest and has gained funding to allow the further development of the diagnostics test.

Prof Black says: “Sapientia is now being adopted into clinical service; the next phase is to look at the ways that genomic services and the data storage and analysis pipelines can be further developed to meet the wider needs of the NHS.

“So we’ll be working alongside Congenica to deliver the vision that NHS England and Genomics England have of using genomic testing to unlock the potential of genetic medicine to benefit our patients and transform the NHS.”