Is Genomic Medicine for All Finally Here? — As reported in the Clinical OMICs, there is a possibility the next great transformation in healthcare started in the Queen Mary University of London. It was here in the summer of 2013 that the first handful of workers for a new entity funded by the UK Department of Health called Genomics England began to lay the groundwork for the 100,000 Genomes Project.
The pilot project had a wildly ambitious goal at the time of its launch: to complete 100,000 whole-genome sequences of patients—and in some cases their immediate family members. The sequences garnered from participants, recruited by England’s National Health Service (NHS), were to be used to simultaneously build research cohorts in rare diseases and cancer, while also using the data to inform diagnoses and to guide clinical care.
One of the driving forces behind the launch of the project was then Prime Minister David Cameron, whose eldest son, Ivan, suffered from the rare genetic disease Ohtahara Syndrome—characterized by numerous and severe epileptic seizures. Ivan succumbed to the disease in 2009 at the age of six.
“It did make me think there is so much more we can do to help progress in genetics and genomics and in drug discovery and understanding these things,” Cameron told a packed hall at the BIO conference in 2017. “That was one of the reasons why, as Prime Minister, I commissioned this 100,000 Genomes Project and had the first sequenced genome sitting on my desk.
“I thought there was a unique chance in Britain, because we could combine a databank of genomes, with our National Health Service,” Cameron said. “If we took the genomes of 100,000 people who had rare conditions…and you could test the outcomes against what was happening in the NHS, I thought we could do some great stuff.”
The ultimate goal was to use the project as a proving ground that genomic medicine was not merely a pipe dream, but could be provided to all 55 million people served by England’s NHS.
“It was a ridiculously ambitious pilot,” said Joanne Hackett, chief commercial officer of Genomics England. “At the time, it was extremely expensive for whole-genome sequencing. It took a very long time and that there wasn’t anyone doing it at scale.”
A bit more than a year after its formation, Genomics England announced it would partner with sequencing giant Illumina as the linchpin of its whole-genome sequencing operation using a combined investment of roughly £300 million, including money provided by the Wellcome Trust to house the sequencing center at the Genome Campus of the Wellcome Trust Sanger Institute, just outside of Cambridge.
According to David Bentley, vice president and chief scientist at Illumina, the foresight of Genomics England in its structure of the project shouldn’t be underestimated. “It bit off both a large number of patients in the NHS and the challenge of doing the whole-genome—going straight for the test which they believed was the long-term future for medical genetics,” said Bentley, whose genomic pedigree includes working with Sir John Sulston of the Sanger during the Human Genome Project. “So it was very courageous and it was challenging in many areas.”
But despite the scale and challenge of the task, it all paid off. In October, the NHS announced it was transitioning from the pilot and would begin offering whole-genome sequencing for anyone suspected of having a rare disease and for certain forms of cancer under its Genomic Medicine Service—by far the largest deployment of a genomic medicine service anywhere in the world to date.
