Hello Lifehacker, my family has a history of health problems with liver disease being a real issue, so I was recently looking into getting my entire genome sequenced to see if I was prone to the same thing? I have heard that this will allow me to tell if I will get liver disease? What kind of prices would I be looking at if I wanted to get this done? Where can I go to get it sequenced? Cheers, DN-Dave
Well your first question is how much does it cost to sequence a genome and that has always been a bit of a moving target. Before we get to that, let's try and understand what genome sequencing is in the first place.
For those that are unaware, genome sequencing is a process that allows us to look at how our genes are structured. We are made of DNA - the 'building block of life' - but DNA is made up of four nucleotides that stitch together to form genes. These four nucleotides are adenine, thymine, guanine and cytosine and we give them the single-letter abbreviations A, T, G and C.
Genome sequencing aims to work out which order the A, T, Gs and Cs are present in your DNA. You see, A always pairs with G and T always pairs with C. Machines of startling complexity are able to smash apart samples that you give - such as blood, hair or saliva - pull apart your DNA and then put it back together again based on this principle and, simplifying things exponentially here, give you a read out that tells you the order of your DNA and thus, what makes up your genes.
Subtle differences in A, T, Gs and Cs is what makes you, you.
Teams of hundreds of scientists were required to sequence an entire human genome back in 2001, at a cost of approximately $3 billion. Nowadays, advances in technology have allowed us to sequence a genome with much greater speed and much greater efficiency. It hasn't become cheap, but it wont set you back $3 billion.
Australia's first whole-genome sequencing service, which is undertaken by the Genome.One team at the Garvan Institute of Medical Research in Sydney, costs $6400. The service is able to identify your genetic risk for 31 types of cancer and 13 heart conditions.
Whether this is of particular interest to you will vary. Genome sequencing, as powerful as it is, will not tell you whether or not you're definitely going to get liver disease. At best, it will help inform you if you are at risk of developing the same sort of problems that other members in your family have. Genome sequencing can complement family history of disease and you can use it to inform healthy living but you shouldn't expect it to give you an answer on whether or not you will end up with liver disease.
For all our scientific advancement in this area, we still lack the tools to effectively, cheaply and efficiently interpret the results seen in entire genome sequences.
If you do decide on getting your genome sequenced, then you should also look at other services that these providers give you access to - such as genetic counselling.
One of my favourite resources on human genome sequencing is by Carl Zimmer, a highly-regarded science communicator. He wrote a series that details the complexities of sequencing, and what the results actually mean, called Game of Genomes. It’s an excellent, in-depth guide to some of the intricacies of working with human DNA and explores the novelty and narrative of getting your own genome sequenced.