The Dawn of the $1,000 Human Genome?

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At a press conference today in San Diego, Illumina Inc. announced their new generation of DNA sequencing equipment. The NextSeq 500 Desktop Sequencer and the HiSeq X Ten Sequencing System are the latest additions to Illumina's market-leading family of DNA sequencing laboratory instruments. Among the highlights of the press conference is the fact that with the HiSeq X Ten will at last make it possible to sequence a complete human genome for a price of $1,000 US dollars. This price includes the associated costs of instrument depreciation, reagents and labor.

Sequencing a human genome for $1,000 has long been a goal within the genomics community. At this price, a full genome sequencing can be considered within the range of other high-cost medical tests and this could finally open the door for population studies of the human genome. Illumina said that it had already sold 3 HiSeq X Ten packages which include ten HiSeq X instruments as well as the supporting servers and devices required to operate them. The HiSeq X Ten are expected to ship in March 2014 and have a price tag of $10M.

While regular consumers may be familiar with services like the now infamous 23andMe which offer to "sequence" your genome for $99, what these companies actually offer is called a genotype (incidentally, Illumina also provides the array technology behind 23andMe). A genotype is not a full sequencing of the genome, instead it only offers information regarding specific regions of the genome that are of particular relevance. A full genome sequencing is a much more costly process, but in return offers more data than a simple genotype. This is the first time a company has offered a commercial kit capable of sequencing the human genome for $1,000 or less.

As exciting as the $1,000 human genome is, it is important to acknowledge that genomics haven't had the impact on medicine that was previously predicted. The complexity surrounding the human genome as well as other epigenetic factors have made it complicated to predict human disease with DNA sequences alone. Finding solutions to genetic diseases has proven to be even more complicated. Right now, apart from the economic costs of generating the data, an area that has prevented quicker progress is the data analysis. Biostatisticians and bioinformaticians struggle to effectively analyze the large datasets generated by instruments such as the HiSeq. Let's hope that with new advances in sequencing technologies such as the one announced by Illumina today, more researchers become involved in human genomics and greater progress is made in the following years.

Via BusinessWire

Source Illumina Inc.