100,000 Genomes Project reaches halfway milestone

The UK’s 100,000 Genomes Project has reached a major milestone by sequencing 50,000 genomes, just over five years after it was announced by then Prime Minister David Cameron.

Genomic testing is changing the lives of people with a rare disease, providing diagnoses for the first time after years of uncertainty and distress. The average rare disease patient in the UK consults five doctors, receives three misdiagnoses and waits four years before receiving their final diagnosis, so it is clear that the potential of genomics must be seized as soon as possible.

The 100,000 Genomes Project is the largest national sequencing project of its kind in the world, recruiting participants through care and treating them through routine channels thanks to the structure of the UK’s National Health Service (NHS). It was made possible through a public–private partnership formed between Illumina and Genomics England — the entity created by the UK Department of Health to run the project.

Of the 50,000 genomes sequenced so far, 8000 are for cancer patients and 42,000 for rare diseases. Breast, brain, colorectal, lung, prostate and renal cancers are among those to have been successfully sequenced, with whole genome sequencing providing a more complete picture of the precise genetic changes causing an individual’s cancer. Early analysis has found genetic changes in more than 60% of cancer patients, which could potentially provide new therapies through clinical trials for some of these patients.

By providing better insight into the cause of diseases and how diseases develop in each individual, the aim is to ensure medicine is more targeted and unwanted side effects are minimised. Participants with rare diseases are already benefiting from faster diagnoses, with cancer patients receiving personalised treatment programs only made possible by the project.

“The 100,000 Genomes Project was a stunningly ambitious project when announced by the (then) Department of Health five years ago,” added Genomics England Executive Chairman Sir John Chisholm. “Since then, Genomics England and NHS England (now joined by Scotland, Northern, Ireland and Wales), working with a huge number of groundbreaking partnerships, have built the infrastructure and protocols to deliver health-enhancing diagnostics from consented patients with undiagnosed rare genetic disease and common cancers, while at the same time enabling their data (in de-identified form) to provide the basis for research leading to improved therapies and treatments.”

Staff in NHS Genomic Medicine Centres (GMCs), as well as those in Northern Ireland, Scotland and Wales, have not only worked to deliver the project, they have also pioneered new systems, processes and procedures to ensure that genomic medicine can become part of routine NHS care. In fact, Sir John noted that the project is now able to operate at a scale to complete the target by the end of 2018.

Illumina President and CEO Francis deSouza concluded, “This important milestone in our partnership with Genomics England marks a significant step towards delivering whole genome sequencing at scale into the NHS and provides physicians with the data to make diagnoses based on a patient’s genome that will lead to better health outcomes.”

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