Nature Medicine | Spoonful of Medicine

Businesses ready whole-genome analysis services for researchers

By Trevor Stokes

The cost of sequencing an individual’s entire genome has fallen precipitously over the past five years, from around $100 million for the first personal genome to under $5,000 today when sequencing services are purchased in bulk. In response, a handful companies have started developing whole-genome annotation services that give clinical researchers lacking expertise in bioinformatics the ability to use genomic data for disease-discovery and drug-response testing.

One company, Knome, based in Cambridge, Massachusetts, already offers a package deal. For about $5,000 it will sequence and annotate a genome—with a minimum order of ten genomes. Meanwhile, two California companies, Emeryville-based Omicia and Personalis in Palo Alto, are beta-testing annotation services in academic settings, with future plans to roll out their services in the clinic. Although neither of the two has set its pricing yet, Omicia is expected to release an annotation service for academics and clinicians in early 2012.

Notably, the whole-genome approach to DNA analysis stands in stark contrast to the single nucleotide polymorphism (SNP) method. Whereas the former involves sequencing the full three billion base pairs of DNA in the human genome, the latter typically looks only at around a million single-letter variants at disparate points along chromosomes.

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