It’s the analysis of the genome rather than the sequencing itself that is proving to be the most difficult aspect of personalized genomic medicine. While scientists have identified hundreds of genetic variations linked to risk of specific diseases, the meaning of the vast majority of the genome is still unknown. And in most cases, scientists don’t yet know how to combine genetic risk factors with environmental risk factors to produce accurate predictions for the likelihood of developing a specific disease.
Currently, 23andMe, Navigenics, and Decode use gene chips to analyze specific genetic variations commonly found in different populations that have been linked to diseases and other traits. Whole-genome sequencing captures a much higher volume of genetic information, as well as additional types of genetic variation, such as deletions and duplications of segments of the genome. Knome already provides analysis of the entire genome and thus will likely have a leg up on the competition in terms of interpretation. Jorge Conde, Knome’s president, says that the company will still offer its $99,000 service, which includes in-person interpretation by a panel of experts. In contrast, Knome’s service, provided through Illumina, would be automated.
Flatley has already had his genome sequenced and has announced three others currently being analyzed: Hermann Hauser, a venture capitalist with Amadeus Capital Partners who was involved with Solexa, the startup on which Illumina’s sequencing technology is based; Henry Louis Gates Jr., a Harvard professor who has used genomics to explore African-American history; and Gates’s father, Henry Gates Sr.
Illumina is also developing an application for the iPhone that would allow consumers to interact with their genetic information in different ways. One example is a feature that determines which statin medication an individual should take, as well as the optimal dose, based on her genome.