Patient and Public Involvement
A key element of the
100,000 Genomes Project is to directly engage with both our
participants and the public about its work.
A series of engagement events and opportunities are planned
throughout the lifespan of the project, details of which can be
found on these pages.
100,000 Genomes Project 2 year anniversary in Greater
Manchester, 3rd April 2017
recently celebrated our two-year anniversary delivering the 100,000
Genomes Project by holding a half-day event for staff working on
the project from across Greater Manchester and two of our Patient
We are delighted to have now recruited almost 1800 patients to
the project from our region, and we have received some of the first
results for rare disease participants in the project which have led
to a specific diagnosis.
A summary of the event can be found here.
Pilot Participants' Day, 28th November
delighted to welcome nearly 50 patients and their families who are
taking part in the pilot phase of the 100,000 Genomes Project to
our Pilot Participants' Day. During the event guests were told
about progress in the pilot and main phases of the Project,
introduced to the science behind whole genome sequencing and how
results are obtained. In discussion groups we heard about
patients' experiences waiting 2 years for their results, how people
might like to hear about their results, the meaning of words which
might be used to describe results, and the transfer of the pilot to
the main phase of the Project. Families told us that the
event had been helpful to them and they gave us some useful
feedback on their on-going involvement in the Project. A summary of
the event can be found
We plan to organise a similar event in 2017 to give the
participants of the main phase of the Project a similar opportunity
for discussion and feedback.
Our 1000th participant
recruited to the 100,000 genomes project
Ten year old James Woods, a lifelong patient of Saint Mary's
Hospital, has become the 1000th participant in Greater
Manchester to be recruited to the 100,000 Genomes Project.
Read more about James and his family's story
Genome Café held at University Hospital of
South Manchester, 18th November 2016
To raise awareness and promote the 100,000 Genomes Project in
the run up to its launch at University Hospital of South
Manchester, we held a Genome Café in the main entrance of the
hospital. The event was well attended, with over 200 people
visiting over the course of the day, including patients, members of
the public and healthcare professionals. Attendees were able to
find out about the aims and purpose of the project, how they could
get involved, and learn about genomic medicine more generally.
Behind the Scenes: Our Genomes and our Health, 27th
As part of the Behind the Scenes of Manchester Science event to
celebrate Manchester's designation as European City of Science, we
opened our laboratories to the public.
Genomic information is becoming a more important component of
diagnosis and treatment in modern Medicine. Guests met few of our
genetic scientists, researchers, counsellors and consultants. They
were given an introduction to genetics and genomics in medicine,
then after some fun science activities, guests went on a tour
around our state of the art laboratories and were shown how the
100,000 genome project is integrating the latest technologies into
clinical care and making a real difference in people's lives.
A summary of the event can be found here.
Saint Mary's Hospital atrium, 6th July 2016
Staff and patients were able to see the printed copy of the
human genome and meet clinical scientists and researchers involved
in the 100,000 genome project. The text, in type font size 4,
requires 130 volumes to record the DNA code from the human genome
that is present in every single cell of the body.
Pint of Science: Your Genome Your Health - May
Clinical Scientists from the Manchester Centre for Genomic
Medicine delivered an evening of genomics as part of the Pint of Science. The event had quickly sold
out. The evening included a chromosome challenge with prizes and
DNA extraction as well as talks from Dr George Burghel and
Professor Bill Newman. To hear more about the evening please visit
our Twitter account @CMFT_Genomics.
The evening also included the display of the full printed copy
of the human genome (thanks to Genie, University of Leicester).
This is likely to have been the first time for a printed copy of
the human genome to be presented in a Pub!
Health Care Science Week 16-17
th March 2016
Our scientists celebrated healthcare science week 2016 with an
interactive presentation for key stage 4 and 5 pupils from local
schools which was well received. This gave us the opportunity to
discuss our involvement with the 100,000 Genomes Project and how
patients' samples are processed in the laboratory, from sample
receipt and DNA extraction to sequencing and analysis of data using
cutting edge technologies.
Our karyotyping competition and DIY DNA extraction activities
generated lots of interest from students during a subsequent 'meet
our scientists' session following the event, which were repeated on
the following day in the hospital atrium, allowing us to share
information about our work with patients and healthcare
Participants Day - March 2016
To celebrate Healthcare Science Week, and to mark one year since
we recruited our first patient to the project - the team held a
Open Day for participants on 17th March. Guests were welcomed into
the centre and had a number of short talks about where we're going,
what we hope to achieve, and then were invited to ask any questions
they had. After lunch and a chance to chat to other people and
families taking part on the trial, everyone was invited on a tour
of the lab to see how it all works.
To date we've recruited over 500 people to the project, and
we're thrilled that so many people have shown an active interest in
helping us with our work contributing to the collection and
decoding of 100,000 human genomes. The project is at an exciting
stage, with more money promised to support the project nationally,
and more people coming on board each week.
A summary of the event can be found here.
Here are some photos of the event:
Pint of Science - October 2015
Scientists and counsellors recently took part in an innovative
engagement event, sharing their knowledge about science and
genetics in a fun and quirky way.
The 'Pint of Science' event is a global initiative which takes
place in pubs across the world, encouraging people to learn about
developments in science research in a fun and accessible way - and
all over a pint!
The team at Saint Mary's, including clinical scientists, genetic
technologists and genetic counsellors, delivered some practical and
engaging activities including a karyotyping competition and DIY DNA
It was also an opportunity to share information about the
100,000 Genomes Project, a national project that involves
collecting and decoding 100,000 human genomes. The project will
enable scientists and doctors to understand more about specific
conditions, transforming the diagnosis and treatment for patients
with cancer and rare diseases.
Saint Mary's Hospital heads the Greater Manchester NHS Genomic
Medicine Centre (MGMC), one of 11 centres in England committed to
sequencing 100,000 genomes before 2017.
Event organisers said of the event:
"Thank you for bringing an amazing activity and an army of
enthusiastic people! Everyone I spoke to really enjoyed the
activities, especially those who won the prizes!"
The team have now been invited to present a full evening event,
including further talks and activities around the theme of
University of the 3rd Age
A member of the team recently gave a talk at the University of
the 3rd Age, pictured below. The talk, about the 100,000 Genomes
Project, and wider Genomics teaching, was considered a great
success by attendees.
The team were thrilled with the positive feedback:
"The most exciting things I learnt from you last night was the
differences between those single gene disorders where the faulty
gene does not produce a damaging protein and where it does, and the
point why the virus will hopefully not deliver the "good" gene to a
location where it will alter expression of another gene and cause
"It followed a logical progression and at each stage you
captured the audience's attention with interesting statistics and