“Cheap” Personal DNA Sequencing

Illumina, one of the leading suppliers of genetic sequencing tools and services, has announced that for $48,000 a consumer can have their entire DNA sequenced.  (Illumina Release)  The company also has partnered with four direct-to-consumer genetic testing companies—23 and Me, Knome, Navigenics and Decode Genetics—to provide a vehicle for consumers to get assistance in understanding the results.  Most of those firms already offer a more limited sequencing service aimed at specific genetic risks, in some cases for under $1000.  Illumina also is offering an IPhone application which will assist consumers in tracking certain genetic traits and risk factors.

While the price will mean only a few consumers will likely purchase the full gene sequencing service, Illumina is trying to establish itself in the direct-to-consumer market for full-genome explication, in the belief that prices will continue to decline rapidly and the market correspondingly grow and create a substantial revenue opportunity.  The consequence of continuing direct-to-consumer marketing of genetic information acquisition is unclear.  It could result in more issues in coordinating care and getting useful information in the hands of primary care or treating physicians.  It will also increase pressure for insurance reimbursement of the services.  At a time when controlling health costs is a paramount issue, genetic information and diagnostics could become a significant source of new costs.  Quality could be improved, but it is not yet apparent whether there are some cost benefits.  In any event, developments in personalized medicine continue at a very rapid pace.