Month: February 2020

Rare Disease Day 2020 – diagnosis is just the start of another journey for patients

Today is Rare Disease Day 2020. The 100,000 Genomes Project is coming towards an end as we have finished sequencing everyone’s genomic samples, and are working hard to get the last few reports back to the NHS. To mark and raise awareness for the occasion, we asked Dr Christine Patch, Clinical Lead for Genetic Counselling at Genomics England, to give us her perspective.

Professor Christine Patch, Clinical Lead for Genetic Counselling

Projects such as the 100,000 Genomes Project and others are directly facilitating new genetic diagnoses for patients with rare disease. The research that will happen as scientists explore this genomic information will lead to greater understandings of rare disease and create the possibility of new treatments. In the short to medium term, as health services such as the NHS in England implement new technologies and make access to appropriate genetic testing easier and more efficient, the excitement and hope is that many more patients and families with rare diseases will be able to avoid the long diagnostic odyssey and get a diagnosis and explanation more quickly.

In the optimism and excitement about this however, we must not forget that the diagnosis is just the

start of another phase of the patient and family journey. We know that rare disease charities and advocacy groups are already asking the question – what happens next? Projects like the 100,000 Genomes Project, and its collaboration with the NHS and the participants, has made real progress, but it is also just the start.

As a health professional I think our obligations to patients and families with rare disease includes thinking about how we can impact on the next stage, and use our resources to focus on how we work with and support patients and families to manage the impact of genetic information in their lives, which for some will include the impact for future generations.

Participants in 100,000 Genomes Project instrumental in ground-breaking advance in understanding of bowel cancer growth

Genomic data provided by participants in the 100,000 Genomes Project has helped Cancer Research UK researchers identify how a common type of gut bacteria could contribute to bowel cancer.

The research, undertaken by a team of international researchers led by Professor Hans Clevers in the Netherlands, shows that a toxin called colibactin released by a strain of E. coli, causes unique patterns of DNA damage to the cells lining the gut. These ‘fingerprints’ were also seen in bowel cancer tumours, showing a direct link between the bacterial toxin and the genetic changes that drive cancer development for the first time.  This work demonstrates the value of Cancer Research UK’s Grand Challenge to understand how bacteria may influence cancer.

Sequencing data for the paper was provided by Genomics England from participants in the 100,000 Genomes Project and is published in Nature today. Working with scientists including Dr Henry Wood and Professor Philip Quirke FMedSci from the School of Medicine at the University of Leeds, Genomics England provided 2,208 genomes for the project, without which the findings would not have been demonstrable.

Ian Hartley, a participant in the 100,000 Genomes Project who donated his genomic information for the project during receiving cancer treatment, said:

I’m thrilled that my cancer experience, however negative it was at the time, has helped in a small way deliver such a positive leap forward in our understanding of how bowel cancer develops.

I was approached about the 100,000 Genomes Project by my doctors early on in my treatment to see whether I wanted to volunteer. For me, it was a no-brainer to say yes. Providing researchers with genomic information has so much potential to help not only the individual with treatment and early diagnosis, but also all of us collectively. These findings demonstrate that in the clearest terms.

I would strongly encourage anyone who is unsure about whether to donate their data to do so. The more open we are about the advantages of genomic research, the better. The bigger the genomic data bank Genomics England has, the more advances like these can be made.

As well as identifying for the first time a toxin as a probable new cause of bowel cancer, the research team has suggested that detecting this specific DNA damage in the cells lining the gut could one day allow doctors to identify people at higher risk of the disease and be used alongside current bowel cancer screening tests.

Commenting on the findings, Professor Sir Mark Caulfield FMedSci, Chief Scientist at Genomics England, said:

Genomics England are delighted that data provided to us by our participants from the NHS has enabled researchers to help accelerate these findings, which are a world-first. Without the participation and generosity of Ian and all the others, this outcome would not have been achievable.

There are around 42,000 new bowel cancer cases in the UK every year, and it remains the second most common cause of cancer death. These findings enabled by the UK’s 100,000 Genomes Project opens a new vista on the biology of colon cancer and has significantly improved our understanding of how this type of cancer develops. We are very optimistic that this research will ultimately lead to improved diagnoses and better outcomes for patients.

Our participants, who contribute to the continual growth of our research environment and the quality of the data within it, are critical in facilitating the genomic research that leads to clinical insights like these which are leading the world.