Ten years on - personal genome sequencing for under £50K

The age of affordable genome sequencing is inching ever closer, spurred on last week by the announcement that San Diego biotech firm Illumina is launching its personal sequencing service for under $50,000. Speaking at the Consumer Genetics Show in Boston, Massachusetts, US, Jay Flatley - the president and CEO of Illumina - unveiled a service that represents the first time that an individual's genome can be sequenced so thoroughly, for such a (relatively) low price.

Illumina has offered basic genotyping services since 2001 - reading a customer's SNPs (single nucleotide polymorphisms) and relating these to specific disease traits - but is better known as supplier of the popular sequencer instrument - Genome Analyzer II - to both academic and industry sectors. In February, Flatley predicted that babies' genomes would be sequenced at birth by 2019, given the current rate of sequence development, fueling rumours that Illumina would soon enter the whole-genome sequencing market itself.

Conceding that demand for such an 'information goldmine' may not yet be huge, an optimistic Flatley nonetheless proposes that the current market potential could be on the order of hundreds of customers. 'We think there is quite a number of people who want to be among the first ten named genomes in the world, or the first 100, or the first 1,000, so I think there is some market here', he said.

In a move deemed as pragmatic yet naive, the service will only be available via referral from a physician. Direct-to-customer (DTC) sequencing remains controversial, as customer anonymity might more easily be comprised should no doctor be stationed as mediator and, furthermore, patients may not be in a position to make informed decisions in response to unanticipated results. Germany has recently passed a law against any DTC sequencing operations. However, prescriptions are available to customers via Illumina's website, where customers can choose from a list of physicians allied to the firm.

Increasingly rapid sequencing will ostensibly drain the market, as individuals will need their genome sequencing just once. The arguably more interesting service - the interpretation - is being left by Illumina to third-party firms, like part Google-financed 23andMe, deCODEme and Navigenics, who will calculate disease risks, ancestries and other traits of interest, based on the literature. Whilst sequencing will one day reach a peak, interpretation will be an ever-evolving market, as our understanding of the human genome expands. Illumina has yet to invest in this field.Flatley also unveiled a prototype iPhone app that would allow doctor and customer to share and analyse sequencing results, fitted with a biometric ID system to ensure data protection.