After the gold rush

Abstract

Have you noticed anything different recently? Last year, something we have all taken for granted for decades changed. I am not talking about new theories on the functionality of 'junk DNA' (I think that has received enough attention already) but the consequences of the change I am referring to may radically affect the way we do science. A few months ago, the National Human Genome Research Institute (NHGRI) updated their analysis of the cost of sequencing and, for the first time since records began, it got more expensive (Figure ​(Figure1).1). You know the graph, the one which looks like the profile of an aqua-park waterslide, a gradual incline followed by a precipitous drop as next generation sequencing kicks in. Well, now the waterslide ends with a treacherous upward flick! We have become so comfortable in the knowledge that DNA sequencing reduces in cost at a rate that makes each run cheaper than the last, that some of the scientific community are in denial. I have even seen people present this graph at meetings and explain how sequencing is getting cheaper every day despite the fact they are standing in front of a 10 foot PowerPoint slide showing clearly that this is not true. In fact, the cost of sequencing a human genome increased by $717 (an increase of 12%) between April 2012 and October 2012. This month the new figures showed that the price fell again, but the point remains - you can forget Moore's law! Figure 1 Changes in the cost of sequencing over time. The change in sequencing costs over time at sequencing centers funded by the National Human Genome Research Institute (NHGRI), up until January 2013. The cost displayed is per raw megabase of sequence. Data ... Some of you will think this merely means you need to replace the opening slide in your PowerPoint deck and tone down some of the rhetoric around $10 human genomes and the advent of free sequencing. I, however, think that the long-term ramifications may be more profound.