The 100,000 Genomes Project explained at NHS Expo
FASTER, MORE ACCURATE
FOR GENETIC DISEASE REACHES PATIENTS
Manchester first to adopt
Sapientia and chosen for NHS innovation
It took Roy Boyes 40 years to get a diagnosis for his rare
genetic disease; his condition was only given a name when whole
genome analysis revealed Roy and his son Owen shared the same
single gene mutation.
Manchester has become the first NHS genetics service in the
country to use genome DNA sequence analysis supported by
SapientiaTM, a world-leading technology developed by
Congenica. The two organisations are part the 100,000 Genomes
Project and will feature in a display by Genomics England at the
Health and Care Innovation Expo 2015 at Manchester Central, 2-3
September, to show the future of diagnostics.
To hear Professor Bill Newman explaining what the
project means for families like the Boyes, click here to watch him being interviewed by
North West Tonight's Alex Worsick (Clip begins at 17.59
Professor Graeme Black, Professor of Genetics and Ophthalmology
at Central Manchester University Hospitals NHS Foundation Trust
(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."
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'. When he was eleven Owen
had his genome sequenced, revealing a mutation in one gene. This
mutation gave him the diagnosis of 'Sotos Syndrome' and the reason
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 that
early diagnosis could have saved them from the 'patient odyssey' of
tests and more tests. Interestingly, Owen's father Roy shared the
same mutation. Roy had always felt different to his peers and had
missed out on his education; now, after 40 years of searching, he
finally knows the reason why.
Whole genome sequencing isn't cheap but with rare diseases, such
as Owen's, it is more cost effective. As Owen's symptoms matched
many diseases, without whole genome analysis he would have been
given a series of tests to eliminate each disease before the
correct diagnosis was reached.
NHS Innovation Accelerator (NIA) fellow Andrea Haworth is Head
of Clinical Services at Congenica. She says: "Sapientia enables a
tenfold increase in diagnostic yield, shorter test turnaround
times, and improved clinical decision support for identifying
disease-causing mutations. This will allow doctors to implement a
more personalised management and treatment plan for the
Manchester Centre for Genomic Medicine (MCGM) and Congenica will
be on the Genomics England stand at the Health Care Innovation
conference, explaining the process that a patient's sample will
take from sequencing and interpretation through to diagnostic in
George Freeman MP, Minister for Life Sciences, Department of
Health and Department for Business Innovation and Skills say: "Our
investment in Genomics is about ensuring the UK leads the world in
genomic science and medicine to develop more personalised
treatments that can make a real difference in NHS patients. This
partnership between the Manchester Centre for Genomics Medicine and
Congenica is a great example of how the NHS is embracing pioneering
technology to speed up the use of genome testing for patients and
create new jobs in the North West."
As not all gene mutations cause disease, it is vital to identify
which changes are important. Sapientia notes and remembers all the
mutations that lead to certain disease symptoms or 'phenotype' and
retains this information in a knowledge-base.
To speed up this process hospital consultants such as those at
the MGMC are working closely with Congenica to incorporate historic
sequencing data into the platform. This is important in identifying
Prof Black says: "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."