Illumina $1000 genome breakthrough: what next?

Philippa Brice

16 January 2014

Sequencing multinational Illumina has released a new sequencing system that it says is the first to break through the long awaited barrier of the $1,000 genome.

 

The new HiSeq X Ten Sequencing System, which effectively comprises ten linked HiSeq X Systems, was unveiled in the US, is said to be able to sequence an entire human genome at 30x depth (the minimum considered essential for clinical applications) for within $1,000 per genome, and is being marketed as ideal for population-level human whole genome sequencing projects.

 

Eric Lander, founding director of the Broad Institute, announced as one of the first customers, described this development as “tremendously exciting” and heralded it as “an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine”.

 

The HighSeq X Ten systems, yours for $10 million (and only for use by ‘large institutions running massive genomic projects’ ie. really good customers) were said to be able to sequence five whole human genomes per day or 18,000 per year.

 

Illumina has also released a new deskop sequencer, the NextSeq™ 500 Sequencing System, which for $250,000 is said to be able to sequence one whole human genome and up to 16 exomes or 20 non-invasive prenatal testing (NIPT) samples in a day, as well as having options for lower-throughput sequencing.

 

Assuming that Illumina’s new offerings live up to expectations (and it is generally expected that they will) and deliver the long awaited $1,000 genome, this could really be a turning point for genomic medicine. Competitors are working hard to reach the same benchmark, and although this price-point is only currently available to the very largest genome sequencing efforts, it is an important step in the right direction.

 

However, this breakthrough is, as scientists would say, ‘necessary but not sufficient’ to deliver the health benefits of genomics. As Illumina Director of Scientific Research Sean Humphray observes on the company blog, making genomes really useful requires ‘annotation, leveraging public databases using tools’ – that is, analysis to identify the individual sequence variants within that sequence and their potential scientific relevance.

 

Turning a genome sequence into a clinically useful diagnostic report requires even further interpretation, selecting from the many millions of individual variants only those of most probable and significant relevance to that person’s health, and delivering this information in a meaningful format for normal clinicians to understand and use. Illumina themselves have provided a potential vision of the future in the form of their personal genome sequence interface, MyGenome – delivered in glorious technicolour on an  individual iPad – although a more utilitarian product would no doubt fit the bill for many health services.

 

Many more innovations and developments are still needed, not least in computing and bioinformatics, in order to move us from $1,000 genome to $1,000 clinical genome – but there’s little doubt that we can get there eventually.

Download our free briefing note for more information on the steps involved in whole genome analysis and clinical interpretation.