Since the first full human genome was successfully sequenced in 2000, genome sequencing has grown into a competitive research field, with investors keen to produce a robust, commercially viable genome sequencer for public use. Tough competition within the industry has already driven down prices, and you can now have your entire genome sequenced within a day for just $1,000 – it’s a long way from the initial price of £2.3 billion in 2003! And it’s about to get a lot cheaper, as some soon-to-be-released new technology makes it possible to sequence DNA on laptops using a small USB device.
The complete human genome consists of around six billion characters, and is a complete set of instructions for creating one unique human being. This information is stored in virtually every cell in the human body, so it can be obtained from tiny samples of tissue such as hair (as long as it contains the hair follicle), saliva, or bone marrow.
This data can then be analysed to determine the likelihood of that person developing certain health problems, or of passing on certain hereditary conditions to their offspring. The person could then use this information to inform their lifestyle choices. For example, if the test showed a high risk of a certain type of cancer, they could adjust their diet and lifestyle to help prevent that type of cancer, or go for diagnostic scans even before they develop any symptoms. Therefore, they could reduce their risk of getting that type of cancer, and if they do develop it, they will be more likely to catch it before it spreads.
At present, scientists have a fairly limited knowledge of what each gene does, and how they interact with others. While a large number of genes have been identified as having a specific function, there is still a very long way to go. However, new advances are being made on a regular basis, which means that a genome map plotted today will become more and more useful to the patient and to medical professionals as time goes on.
While genome sequencing is still in its infancy, its potential benefits, both for providers and patients, are massive. Huge sums of money are being poured into research in this field, and competition between rival providers is fierce. The upshot of this is that prices have dropped substantially, and will continue to drop in future. A new desktop genome sequencer called the Ion Proton sequencer, which was released in January 2012, costs just $149,000, which means that people can get their entire genome back within a day for around $1,000 a pop.
However, even this will look steep once the MinIon USB protein sequencer, developed by Oxford Nanopore, hits the market. This device, which is little bigger than a USB pen drive, is set to cost around $900, bringing it within the financial reach of GP surgeries and clinics around the world. In theory, you could even buy one yourself and sequence your own DNA on your laptop – although unless you are a highly skilled geneticist, making any sense out of the vast reams of data produced will most likely be beyond your capabilities!