LONDON – The United Kingdom has seemingly always been at the forefront of research into DNA. In 1953, three researchers at British universities discovered the double helix structure of the DNA molecule that holds our genetic information. Late last year, the UK government announced that it had achieved an ambitious goal to map 100,000 genomes.
The genome is the complete set of an individual’s DNA, including all of its genes. The 100,000 Genomes Project was launched by Genomics England and the country’s National Health Service (NHS) in 2012 in an effort to find new diagnoses and better treatments for people with rare diseases and cancers. The project quickly delivered significant impact for those who took part. Genomics England says one in four people with a rare disease who participated in the effort received a diagnosis for the first time.
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The results have spurred leaders toward even-loftier goals. In October, UK Secretary of State for Health and Social Care Matt Hancock said the 100,000 Genomes Project would continue on and be expanded in a bid to have 1 million genomes mapped by the NHS in the next five years. Nationwide, Hancock wants to partner with other companies and agencies to map a total of 5 million genomes over that same time period.
The U.S. launched a similar project last year through the National Institutes of Health’s “All of Us” initiative. That effort seeks to map the genomes of 1 million Americans, representing the full-spectrum of the country’s diverse population.
For more on precision medicine and how these kinds of projects may further benefit rare disease patients, check out our patient’s guide to precision medicine.
