Genome Sequencing to Cost Less than $1000

Would you like to have access to your genome sequence?

In 1990, the US government began the Human Genome project; an ambitious attempt to sequence the genetic code found in every human being. Back then, genetic sequencing was still in its infancy; “Sanger sequencing” was still used, which capitalised on a quirk of DNA replication and probability theory to describe short sequences of about 50 base pairs each. Then you had to get these short sequences to overlap with each other over the entire human genome, which is about 3.2 billion (3,234,830,000) base pairs long. It cost about $2.7b to sequence the human genome, and took around 12 years to complete.

Since then, genome sequencing has vastly reduced in cost, outpacing early linear predictions. In 2015, sequencing your genome cost about $1400 per person. Over the years the price has bounced downward irregularly, so the cost of sequencing your genome could fall to under $1000 (that’s about £760 at time of writing) within a year.

You could pay for someone with actual qualifications and experience to interpret your genome, but that’s going to cost you another $2000

Before you start getting ready to “make it rain” to sequence your genome, there’s some things to bear in mind. For one thing, who’s going to interpret all that data? Me? Well yes, technically, I could, but I’ve only been studying Genetic Medicine for a couple of months, so don’t hold out much hope that I’d say anything of use. Of course, you could pay for someone with actual qualifications and experience to interpret your genome, but that’s going to cost you another $2000 or so.

If you want something a bit cheaper, you could go for exome sequencing instead. This consists of looking at only the coding regions of your genome; about 3% of it. This already costs under $1000 and usually provides the most relevant information, as the vast majority of genetic diseases are caused by a malformed protein. It won’t pick up on diseases caused by disruption of areas between coding regions (such as “splice sites”), nor will it pick up on any mitochondrial diseases.

If you feel like splashing out on healthcare while advancing science, then you could do worse than getting your genome sequenced

Even then, less than 2% of people get a result that ends up with them making a change to their lifestyle. If a gene is going to have some sort of effect, chances are you already know from the symptoms, like colour blindness or a deadly aversion to warfarin. On the other hand, you might find a susceptibility to lung cancer, but can’t do anything about it except avoiding smoke.

In the UK (and indeed across the world) there are various initiatives attempting to sequence at least a thousand human genomes to establish some sort of disease pattern. If you feel like splashing out on healthcare while advancing science, then you could do worse than getting your genome sequenced. Personally, I’m going to spend my money on alcohol and cured meats.

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