From one to everyone
The first draft of the human genome sequence was completed in June 2000, to much celebration. Yet, as is ever the case in science, the sequence itself provided more questions than answers. Analysis showed that the vast majority of the sequence doesn’t code for the proteins that build and run our cells and our bodies. What is the rest of our DNA doing? Is it a remnant of our evolutionary past or an important part of the code for a human? New questions arose about how our genomes function, and about how they vary from one person to the next. Arguably the most important questions were, and remain to be, about how our genomes are linked to health and disease.
Directly following the human genome project, research programmes were set up alongside Sanger’s sequencing facility. Scientists established and led larger projects, each built on the one before. For example, the HapMap project then the CNV project, the 1,000 genomes project, and UK10K sought to uncover more and more about human genomic variation. Other projects went on to investigate the origins of humankind, studying ancient DNA and piecing together the journeys our ancestors made around the world.
Just a few years after the draft human genome sequence was published, a project to put the knowledge to use in the clinic was started. Working with colleagues in the NHS, Sanger Institute researchers established DECIPHER, to help children with undiagnosed rare genetic conditions. This, and the subsequent Deciphering Developmental Disorders study, have led to diagnoses for families, improved healthcare and the discovery of new genetic conditions. They were also the foundations of the government-led 100,000 Genomes Project and subsequent NHS genomics service that launched in 2018 – enabling whole genome sequencing for all rare disease patients who might benefit.
Now, we sequence DNA at a rate equivalent to a human genome every 3.5 minutes. We’ve sequenced over 10 petabases of DNA since 1992. The first five petabases took 25 years, the next five, just 13 months.
The latest acceleration is down to one project - UK Biobank. We are working to sequence 250,000 of the 500,000 human genomes from volunteers in the project. Linking participants’ DNA sequence data to detailed information about their health and lifestyle means researchers can understand more than ever before about the connections between genomes and health, including heart diseases, stroke, diabetes, arthritis, osteoporosis and depression. The huge numbers mean there is enough statistical power to identify those connections, even when they are rare, or their effects are small.