Faster, more accurate diagnosis for genetic disease reaches patients
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
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
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 other's 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
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
"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 UK100K Genome Project, in which MCGM is also
participating and the Manchester team could see the potential of
this new diagnostic technology.
Since May 2014, Congenica have 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, 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
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 people across the northwest and has
gained funding to allow the further development of the diagnostics
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."
- ENDS -
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Congenica, is a world leading developer of genome-based
discovery and diagnostic technologies.
Congenica is a spin-out from The Wellcome Trust Sanger
Institute. It was founded by six world leading geneticists and
bioinformaticians in genomic sequencing, including Dr Richard
Durbin who led the international 1000 Genomes Project and the
UK100K Genome Project and Dr Matthew Hurles Senior Group Leader at
the Wellcome Trust Sanger Institute and a leader in the Deciphering
Developmental Disorders (DDD) project.
Congenica has developed SapientiaTM technology
platform, which allows genome scale DNA sequence data to be
presented within a clinically actionable diagnostic report. It is
based on pioneering research from the Wellcome Trust Sanger
Institute, NHS clinicians and regional genetic testing
This underlying technology has been validated by leading
independent institutes and clinicians, including Genomics England
About the Wellcome Trust Sanger Institute
The Wellcome Trust Sanger Institute is one of the world's
leading genome centres. Through its ability to conduct research at
scale, it is able to engage in bold and long-term exploratory
projects that are designed to influence and empower medical science
globally. Institute research findings, generated through its own
research programmes and through its leading role in international
consortia, are being used to develop new diagnostics and treatments
for human disease. (www.sanger.ac.uk).
About the Manchester Centre for Genomic
The Manchester Centre for Genomic Medicine is a partnership
between the CMFT and The University of Manchester Institute for
Human Development and represents one of the most comprehensive
units in Europe. An integrated academic and service department
based at CMFT, it provides clinical and diagnostic services for
inherited disorders to a population of over six million individuals
and leads an international programme of research. (www.mangen.co.uk).
About Central Manchester University Hospitals NHS
A leading provider of specialist healthcare services in
Manchester, treating more than a million patients every year. Its
eight specialist hospitals (Manchester Royal Infirmary, Saint
Mary's Hospital, Royal Manchester Children's Hospital, Manchester
Royal Eye Hospital, University Dental Hospital of Manchester and
Trafford Hospitals) are home to hundreds of world class clinicians
and academic staff committed to finding patients the best care and
About The University of Manchester
A member of the Russell Group, Manchester is one of the largest
and most popular universities in the UK. It has 20 academic schools
and hundreds of specialist research groups undertaking pioneering
multi-disciplinary teaching and research of worldwide significance.
According to the results of the 2008 Research Assessment Exercise,
The University of Manchester is one of the country's major research
institutions, rated third in the UK in terms of 'research power'.
The University had an annual income of £809 million in 2010/11. (www.manchester.ac.uk).
About the Regional Growth Fund
The Regional Growth Fund (RGF) has supported eligible projects
and programmes raising private sector investment to create economic
growth and lasting employment. It has invested £2.85 billion to
help businesses in England to grow; and is expected to create or
safeguard over 580,000 jobs. (www.bis.gov.uk).