pathway genomics
I've written many times about how the relationship between the early detection of cancer and decreased mortality from cancer is not nearly as straightforward as the average person—even the average doctor—thinks, the first time being in the very first year of this blog's existence. Since then, the complexities and overpromising of various screening modalities designed to detect disease at an early, asymptomatic phase have become a relatively frequent topic on this blog. Even more than ten years ago, I noted that screening MRI for breast cancer and whole body CT scans intended to detect other…
The brief Golden Age of direct-to-consumer genetic testing - in which people could freely gain access to their own genetic information without a doctor's permission - may be about to draw to a close. In a dramatic week, announcements of investigations into direct-to-consumer genetic testing companies by both the FDA and the US Congress have sent the personal genomics industry into a spin, and it is still impossible to say exactly which way it will be pointing once the confusion passes.
I've been frustratingly unable to find the time to cover the developments as they happened due to other…
Added in edit: for superb analysis of the announcement from multiple angles, you should also check out Dan Vorhaus' three incisive articles on Genomics Law Report.
Personal genomics company 23andMe announced yesterday on its blog (and in an email to customers) of impending changes to its product line. Until now 23andMe has offered only two products: its $399 full scan, and a $99 Research Revolution product that offers limited functionality and a focus on common disease risk prediction.
There are two major components of the altered product line. Firstly, customers will now be able to…
Sequencing giant Illumina has announced that it has delivered its first commercial personal genome sequence. The sequence was generated by the genome sequencing service launched by Illumina back in June, and was delivered in collaboration with new personal genomics company Pathway Genomics.
Illumina's genome sequencing service costs $48,000, and its first customer was entrepreneur Hermann Hauser. Bio-IT World summarises details of the sequencing itself:
Illumina completed the sequence at its CLIA-certified laboratory, producing more than 110 billion base calls, good for 30X coverage of the…