Medicine centres celebrate landmark 100,000 genomes milestone

Scientists and clinicians from the Yorkshire and Humber NHS Genomic Medicine Centre are celebrating after playing a leading role in helping to deliver the world-leading 100,000 Genomes Project, which hit its nationwide goal of sequencing 100,000 genomes earlier this month.

The Yorkshire and Humber NHS Genomic Medicine Centre has to date recruited 6020 participants into the groundbreaking project – which was set up by NHS England in 2012 to decode the DNA sequences of 100,000 people who have a rare disease or condition, their families, and people with cancer.

Once sequenced information about a whole genome, or the full blueprint of a person’s DNA, could lead to faster diagnosis and more personalised treatments for those living with cancers and rare inherited diseases work.

The Yorkshire and Humber NHS Genomic Medicine Centre is one of 13 specialist centres involved in delivering the transformational project.

It is led by Sheffield Teaching Hospitals NHS Foundation Trust in partnership with Sheffield Children’s NHS Trust and Leeds Teaching Hospitals NHS Trust.

Martin Sainty, 49, of Fulford, York, hailed the milestone as 'amazing' and said it could be vital in helping future generations suffering with the same rare disorder as his youngest son, Joel, who was diagnosed  with 16p11.2 at just four months old. 

Very little is known about 16p11.2, which is caused by a piece of information being missing in the specific region of chromosome 16 designated as p11.2. It can cause learning difficulties, autism, eating disorders, behavioural issues, mobility problems, restricted growth, communication problems as well as a whole range of other symptoms and problems.

In Joel’s case it left him critically ill in hospital at four months old, suffering with uncontrolled seizures that would average 40 to 50 seizures a day. Now five, Joel continues to suffer with learning disabilities.

“We’ve got three boys and our eldest also has a severe learning disability,” said Martin. “Initially the doctors tried to link the two disabilities together, but they couldn’t find a common link.”

But taking part in the 100,000 Genomes Project could provide a real breakthrough for families like Martin’s in the future.

“Ultimately you go to a doctor looking for a cure, but in our case the hope comes from the science. Taking part in the 100,000 Genomes Project was the perfect opportunity to make changes for the future, and I felt like I was doing something positive for my children’s children.”

In the short term Martin doesn’t expect “results” that will directly impact on his son’s care, but he said reaching the 100,000 genomes sequenced landmark nationally was fantastic. “This landmark is fantastic as it gives you a bit of hope that there may be answers out there that will give doctors and scientists a common goal to learn more about rare chromosome disorders like 16p11.2. The more they learn the more will be able to get answers for the future, so it’s really positive in the long term,” Martin added. 

Julie Atkey, co-operational lead and genomics education and training manager at the Yorkshire and Humber NHS Genomic Medicine Centre, thanked all their participants for taking part: “We were one of the second wave NHS Genomic Medicine Centres set up in 2016 so to have sequenced just under 6,000 samples in just under three years is a fantastic achievement.

“We’d like to thank all our participants for helping us to play a key role in helping us to deliver this ambitious and hugely transformational project to the benefit of patients across the globe, and we look forward to continuing to working in partnership with Newcastle upon Tyne Hospitals NHS Foundation Trust, Sheffield Teaching Hospitals, Sheffield Children’s Hospital and Leeds Teaching Hospitals to lay the foundations of the new genetic laboratory medicine hub for the region.”

Around 85,000 people had their entire genetic code, or genome, sequenced in total to date, but because cancer patients also had their tumour DNA mapped, the number of genomes totalled 100,000.

The human genome is made up of billions of pieces of DNA, found in nearly every cell in the body. It is the instruction manual for life and errors can trigger a vast range of disorders.


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