100,000 Genomes Project Reaches Halfway Milestone

By Bio-IT World Staff

February 20, 2018 | The United Kingdom’s pioneering 100,000 Genomes Project has reached a major milestone by sequencing 50,000 genomes.

Of those 50,000 genomes sequenced so far, 8,000 are for cancer patients and 42,000 for rare diseases. Breast, brain, colorectal, lung, prostate and renal are among those cancers to have been successfully sequenced.

While many developed countries are working on genomic medicine initiatives, no other has the reach and impact of the 100,000 Genomes Project, recruiting participants through care and treating them through routine channels due to the unique structure of the UK’s National Health Service (NHS). It’s currently the largest national sequencing project of its kind in the world.

Following the announcement, Francis deSouza, lllumina’s President and CEO said in a written statement: “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.”

The 100,000 Genomes Project was instigated in 2012 by the (then) UK Prime Minister, David Cameron. Key to the genome sequencing effort is the public-private partnership formed between Illumina and Genomics England - the entity created by the UK Department of Health to run the country’s 100,000 Genomes Project.

The Project has seen participants with rare diseases already benefitting from faster diagnoses, and those with cancer receiving personalized treatment programs only made possible by the Project.

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 minimized.

Whole genome sequencing gives a more complete picture of the precise genetic changes causing an individual’s cancer, offering a greater range of treatment options.

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.

“This incredible achievement shows once again why the UK is a world leader in genomic medicine,” the UK Government’s Health Secretary Jeremy Hunt said in a press release. “We’re backing our world-leading scientists and clinicians in the NHS to push the boundaries of modern science and embrace new technology – using data to transform the lives of patients and families through quicker diagnoses and personalized treatments. It is testimony to the hard work of the clinicians and scientists across the NHS and volunteers for the project that we can continue to harness the very best of the NHS and remain at the forefront of this pioneering field.”