On the 26 June 2000, in an announcement made at the White House in Washington DC, the Human Genome Project confirmed that the entire human genome, the genetic code that makes us who we are today, had been sequenced for the very first time.
The project had built on the discovery of the double helix some fifty years earlier. It sequenced more than three billion DNA base pairs, the rungs of the DNA ‘ladder’, and mapped the location of genes in our chromosomes, helping to identify for the first time the genetic ‘mistakes’ which can be a cause of conditions from diabetes to cancer.
Acknowledging the potential value of this knowledge for future health research, the ‘first draft’ of the body’s instruction manual was made freely available to all. A final version, 99.9% accurate, was released three years later. A printed version of the data, on display at the Wellcome Collection in London, was recorded in 100 hard-backed books, each with over 1000 pages.
To mark the 20th anniversary of this scientific achievement, we reflect on the value that genomic research, based on this remarkable announcement, offers to health and social care and the work of the Health Research Authority.
Professor Andrew George is a Non-Executive Director of the HRA and an immunologist. He says:
Professor Andrew George
When I was a young researcher, we would spend weeks sequencing a few hundred base pairs of DNA, now we can sequence an entire genome (billions of base pairs) in a day. That has made possible research that we did not imagine would be possible – and is allowing us to find why certain people get different diseases and respond in different ways to drugs. There is still a lot to do, it will take years before we understand the book formed from our DNA – but at least we can readily read it!
Joanne Doleman is a member of Cambridge South REC and works at the Wellcome Sanger Institute, the only British organisation involved in the Human Genome Project. She says:
As a REC member it’s incredible to see the development in research from the sequencing of the first human genome 20 years ago. Many of the studies we review are using human genetic information to help find out what genes and environmental factors contribute to diseases. The use of genetic information is helping researchers find out, not only how to detect or what is causing diseases, but they are using the genetic information to target and improve the treatments of diseases. Reviewing the studies to ensure the information on how the genetic information might be used and ensuring the participants are fully informed and appropriately consented is a key part of our role.
Patient advocate Lesley Stephen has breast cancer, and genetic research opened up a clinical trial for her to take part in. She says:
My particular type of breast cancer, HER2, is caused by a genetic mutation, and increasing knowledge and understanding in this area has meant that new focussed treatments can be trialled, including the one that I have been on for the past four years. It has given me 4.5 years of good quality life with my family, that I didn’t expect to have. Personalised treatments can be very effective, and it’s crucial that the outcomes of these studies are always transparent, and that patients become more aware of genomic testing, so that knowledge can be shared, and more patients helped in the future.
Will Navaie is an Engagement Manager at the HRA. He gave regulatory advice to the NHS’s genomic medicine service and says:
Genomic medicine had a real impact on accurate diagnosis and prescribing of effective medication. Regulation in this area is tough to navigate with the boundaries between research and care difficult to delineate. We’ve worked hard with partners to ensure that NHS patients data is always ethically, legally and safely used in genomic research.