More than ten years since scientists completed the first sequence of the human genome, today the genetic era will make its grand entrance into mainstream clinical care.
This morning, NHS England launched its 100,000 Genomes Project, a three-year plan to sequence the entire genetic code of thousands of patients with cancers and rare diseases.
The latter includes thousands of conditions that are often named after the first doctor or scientist to describe the symptoms in a patient and can involve everything from neurological to muscular or behavioural problems. They are debilitating, often inherited and can shorten life but usually defy doctors trying to identify the biological causes.
The potential for all this genetic information is huge. As well as insights into how cancers and rare diseases work and how they progress, knowing which genetic variations a person has will help doctors work out ways to personalise their treatment by giving them drugs, for example, that specifically target particular problematic genetic mutations. This already happens to some extent in the NHS with drugs such as Herceptin for some types of breast cancer but the potential to improve so-called “precision” medicine using genetic information is vast.
Genomes have always held the promise to be the cornerstone of healthcare in the 21st century, ever since the draft of the first human genome was published in 2000. The international Human Genome Project (HGP) was a staggering achievement, taking hundreds of researchers more than a decade to piece together the 3 billion letters of the human genetic code, at a cost of around $3 billion (£1.9 billion).
“Today, we are learning the language in which God created life,” said President Bill Clinton on the morning of 26 June 2000, when the draft of the first human genome sequence was formally announced:
In coming years, he continued, doctors would increasingly be able to cure diseases such as Alzheimer's, Parkinson's, diabetes and cancer by attacking their genetic roots. The soaring rhetoric went on: “It is now conceivable that our children's children will know the term cancer only as a constellation of stars.”
The 100,000 Genomes Project is an enormous step along that path and, in part, it has been enabled by the precipitous fall in the cost of genetic sequencing technology - modern equipment can read a person’s entire DNA code in a day at a cost of around $1,000.
NHS England will have 11 designated Genomic Medicine Centres based in hospitals around the country.
The aim is to recruit around 75,000 people, starting from the beginning of February 2015. (The discrepancy in participants and number of sequences is explained because patients with rare diseases - usually children - will also have the DNA of their two closest blood relatives - usually the parents - sequenced for the project; and cancer patients will have their normal DNA as well as that of their tumour sequenced.)
That treasure-trove of information - the largest set of human genome sequences in the world - will be combined with selected patient information from the NHS, anonymised and made available to scientists and pharmaceutical companies looking for ways to tackle cancers and rare diseases.
The patients who take part will get feedback about their own genomes and, in the case of many with the rare diseases, get their first biological understanding of the causes of their conditions.
Turning any basic research findings from a large project like this into new drugs and diagnostic tools in the clinic takes a long time, sometimes decades, which means that many of the participants with rare diseases will not necessarily benefit from new treatments themselves. But their genetic codes will benefit society at large and help successive generations of patients.
Professor Sir Bruce Keogh, NHS England’s national medical director, said that embracing genomics would position the UK at the forefront of science and “make the NHS the most scientifically advanced healthcare system in the world. This is the start of a unique, exciting journey that will bring benefits for patients, for the NHS and for society at large.”
Life Sciences Minister George Freeman added that the project would hopefully “make the UK the best place in the world to design and discover 21st century medicines which is why we have invested in the 100,000 Genomes Project. We also want to ensure NHS patients benefit which is why we have now selected NHS hospitals to help us sequence genomes on an unprecedented scale and bring better treatments to people with cancers and rare diseases for generations to come.”