If someone requires a copy of their genome, there is some good news, it is now possible for it to be sequence for just $1000.
The biotech firm Illumina has just announced the “HiSeq X Ten”, a machine the manufacturers claim will change the way genomes are used in modern medicine. The X Ten is promising an 80% reduction in the cost of completing a “30x type” human genome sequence, and it opens the door for the possibility of sequencing the entire population. Each machine is capable of sequencing 320 people a week, and 18,000 per year, for the most common sequencing tasks. It can sequence 16 complete human genomes in three days. Used in large arrays, it may enable everyone to be sequenced at birth, and for this information to be available for doctors throughout a person’s life.
The cost of sequencing has been coming down for years. The original Human Genome Project cost hundreds of millions of dollars, but in the thirteen and half years that have passed since then the technology has improved so fast that is has beaten the improvement in computational ability achieved by technology firms such as Intel and AMD. The starting price of the machine is steep at $10 million, but Havard and MIT have already ordered three, as have other labs around the world. There is something of a catch though, human genomes are large, and the storage costs for each individual genome can run into hundreds of dollars.
One significant hurdle to overcome is that at present only about 100,000 people have had their genomes sequenced, and the correlation of those sequences to human disease is incomplete. Only through mass sequencing, and the careful analysis of the medical records to sit beside this data, will the hoped for treasure trove of preventative medicine be unlocked. At the moment the number of strong identifications of genetic structure to specific disease is small however, Illumina expects that these machines will create breakthroughs in both cancer and other complex diseases.
The new machine uses a process called Sequencing By Synthesis (SBS), which although technically and chemically complex, can be broken down into amplification, scanning, and alignment. DNA samples are introduced on a clean sample base, such as a glass slide. The amplification process then creates many copies of the available DNA fragments. Having made many copies it is possible to measure the structure of the fragments, and then realign the fragments into an overall genome structure. This new structure is then checked against a reference structure similar to the one produced by the original human genome project. At this point you have an accurate copy of a brand new human genome.
It was President Bill clinton, and Prime Minister Tony Blair, who originally got together for a joint press conference on June 26th 2000 to announce the completion of the Human genome project. A full copy of the human genome that was 99% complete with an accuracy of 99.99% was announced. It would later be realised it was only 92% complete, but the accuracy was correct. Just four years ago scientist at Harvard were puzzling over how to get the cost of genome sequencing below $100,000. Today that limit is a long way beaten.
The announcements about the HiSeq X Ten have been great for Illumina, as their share price went up almost 10% last friday. If a genome copy is required, Illumina seems to be the company that will deliver.
By Andrew Willig