Genomics England and DNA sequencing company Illumina have launched the 100,000 Genomes Project — a bold initiative to help discover groundbreaking treatments against cancer and rare genetic disorders.
The study of genomics has huge potential in changing medicine and healthcare. By mapping the human genome, researchers can understand the genetic roots of many diseases such as cancer, identify individual risk for inherited disorders, and devise more effective drug therapies against those conditions.
Full human DNA sequencing and mapping was completed more than a decade ago in 2003 with the Human Genome Project. However, there is much genetic variation among people than once thought, and scientists now know that it would take the analysis of more genomes in order to fully understand the genetic make-up of humans, and therefore the genetic disorders that affect us.
Now, the United Kingdom is leading a massive and pioneering effort to decode an unprecedented number of genomes in its quest “to become the world leader in ground-breaking genetic research into cancer and rare diseases,” according to a press release.
Slated for completion in 2017, the 100,000 Genomes Project is a four year project that will “allow scientists to do pioneering new research to decode 100,000 human genomes - a patient's personal DNA code.”
“Sequencing the genome of a person with cancer or someone with a rare disease will help scientists and doctors understand how disease works,” project partner Illumina stated in a press release. “The project has the potential to transform the future of healthcare, with new and better tests, drugs, and treatment. It is expected to provide a lifeline to thousands of families affected by rare genetic diseases and cancers.”
The project also aims to kickstart the UK’s genomics industry, create more jobs and opportunities for local scientists, and provide breakthrough services for patients in the country.
“This agreement will see the UK lead the world in genetic research within years. I am determined to do all I can to support the health and scientific sector to unlock the power of DNA, turning an important scientific breakthrough into something that will help deliver better tests, better drugs and above all better care for patients,” UK Prime Minister David Cameron said in a statement.
The UK Department of Health’s Genomics England is partnering with California-based genomics company Illumina to complete the landmark program, which will have more than £300 million (US$505 million) in funding. Illumina will provide the technical expertise and infrastructure support for the project.
Genomics England is pouring £78 million (US$131 million) into the project, while Illumina is spending £162 million (US$273 million). The Wellcome Trust is contributing £27 million (US$45 million) while the Medical Research Council is chipping in £24 million (US$40 million). The UK’s National Health Service (NHS) is providing a further £20 million (US$34 million) to the initiative.
The NHS is currently selecting the first batch of Genomics Medicine Centres that will invite patients with cancer and rare genetic disorders to have their genomes sequenced securely. Approximately 40,000 NHS patients will benefit directly from the personal genomics project.
The long-term goal is for genomics-based medicine to become part of standard practice and routine patient care in all NHS facilities — the first mainstream health service in the world to do so. To help facilitate the project, NHS healthcare workers will be enrolled in a skills and training programme under Health Education England. The NHS’ wide reach could prove crucial to the success of the project.
As Simon Stevens, NHS England's CEO explained, “The NHS' comparative advantage in unlocking patient benefits from the new genomic revolution stems from our unique combination of a large and diverse population, with universal access to care, multi-year data that spans care settings, world-class medicine and science, and an NHS funding system that enables upstream investment in prevention and new ways of working, as demonstrated by this ground-breaking 100,000 Genomes Project.”
It took 13 years and more than £2 billion for the Human Genome Project to sequence the first human genome. But new technologies today have made it possible to sequence more genomes quicker and cheaper than before. Huge public-private initiatives like the UK’s 100,000 Genomes Project, as well as startups like 23andMe, will accelerate this trend.
As stated in a nuviun article, there are now medical tests that can identify more than 2500 genetic diseases, and each year, lab tests for about 200 new genetic disorders are being developed. The advances in genomics could be especially helpful for patients in regions like the Middle East, where there is a disproportionately high incidence of genetic disorders.
(An unrelated but similar study made by international researchers called the 1,000 Genomes Project was completed in October 2012).