Well, we got there, didn’t we? And when I say “we”, I mean “Illumina”. The $1000 genome is clearly here. This has been a goal of genomics for so long, that we are left asking – what’s next? If any of you are thinking “The $100 genome!” then please leave this blog now – you’re not welcome. Obvious changes like this are intellectually bankrupt, and annoy the hell out of me.
The next step is pretty obvious, and I won’t be the first to say this: “Genome at home“. That should be the next challenge of genomics, the equivalent of “The $1000 genome”. And when I say “Genome at home”, I mean everything at home – sequencing and analysis. What we need is technology that can take a sample from a person sitting in their own home, sequence the genome, and upload the data to software sitting on a laptop that can analyse the data and tell the person what it means.
I can already anticipate the comments/emails from companies telling me they can already do this (at least from a software perspective). Save your “ink” – you can’t. Keep trying though.
Some people may point towards the MinION USB sequencer, and I thnk this is the closest device to being able to generate a “Genome at home”, but there are three barriers still to be overcome: 1) I don’t think the MinION throughput is human-genome ready yet; 2) sample prep still needs to be done, and you need molecular biology skills to do it; 3) we don’t know how good the data are yet.
Of course, as is true of every technology, the “raw data to clinical interpretation” software doesn’t exist yet, though many are trying.
So there we are – the challenge that I think should replace “The $1000 genome” is “Genome at home“.