Illumina now will charge $19,500 for the service. Users must follow a physician-mediated process. That's down from the $48,000 the firm was charging when actress Glenn Close revealed in March that Illumina had sequenced her genome.
But Illumina's price falls to $14,500 per person for groups of at least five that are referred by the same physician. And it falls to just $9,500 when a referring physician certifies that the sequencing could lead to a treatment for a patient's disease or condition.
Note the bit about "a physician-mediated process". Regulators won't let you find out our own genetic sequence without a visit to a doctor to get permission. What's the point of that visit? Will the doctor say no? If so, then what, you just don't get to know your own DNA sequence? If the doctor says no you can pay again to visit another doctor to try to get a yes. You can ask friends (or perhaps a social networking site) which doctors always say yes. The gatekeepers want to control the flow of medical information. I am opposed. What about you?
The US Food and Drug Administration has sent a letter to Illumina and other genetic sequencing companies telling them that their sequencing services for individuals falls under FDA authority. That does not bode well as I've previously discussed. Think my fears are overblown? Nope. In 2008 both California and New York State tried to prevent individuals from getting tests done on their own DNA. See this article from Wired and click thru on the links if you have any doubt.
When some overprotective Luddites from the California Department of Health Services sent cease-and-desist letters to thirteen genetic testing companies, they proved that someone in their office must have single nucleotide polymorphism that causes poor judgment. Interfering with the nascent industry is not a good idea for a plethora of reasons.
The messages, which were sent on June 9th, warned that each test must be ordered by a doctor and carried out in a laboratory that meets a strict set of standards. If not, the direct-to-consumer shops will face up to $3,000 per day in fines.
Hence the "physician-mediated process".
How most medical testing should work: Any drug store with a pharmacy department would be able to withdraw blood to submit for testing. Any pharmacist or suitably trained pharmacist's assistant should be able to take a blood sample (or a urine sample if they want to branch out). Then you pay and have the option of getting your results via a email, web site, physical mail, or a return visit. You should have the option of specifying which doctor(s) should also get your test results. You should also be able to have your results sent to an medical expert system web server that tracks all the medical information about you. Your medical history should reside in a cloud server that is independent any individual doctor's office.
The 1000 Genomes Project, an international public-private consortium to build the most detailed map of human genetic variation to date, announces the completion of three pilot projects and the deposition of the final resulting data in freely available public databases for use by the research community. In addition, work has begun on the full-scale effort to build a public database containing information from the genomes of 2,500 people from 27 populations around the world.
This sounds like an impressive scientific effort, right? In a few short years 100 times that many genomes will be sequenced each year and then sequencing rates will go up by more orders of magnitude. Though if the FDA stands in the way Americans will have to go on vacation to other countries to get our genomes sequenced.
Update: To the extent that the US FDA and like-minded agencies reduce the availability of DNA sequencing services they slow the rate of technological advance. Fewer people paying to get their DNA sequenced means less revenue to use to generate future generation sequencing devices. This delays the day various benefits of sequencing will be realized. We will be less healthy than we otherwise would be absent regulatory meddling.
I am looking forward to the day when full genome sequencing becomes affordable. If millions of people can get their DNA sequenced then the meaning of genetic variants will become known much sooner. We will be able to alter our diets and lifestyles and choose drugs and other treatments suited to our personal genetic profiles sooner. We will avoid more diseases. We will live with fewer ailments and pains.
Cheap DNA sequencing available to the masses will enable voluntary sharing of health and DNA sequencing information in order to discover which genetic variants matter. Imagine web sites where you submit your DNA (with appropriately privacy safeguards) along with disease history and physical and cognitive characteristics. Such a large scale cooperative effort will enable much faster discovery of what each genetic variant does. This can make DNA sequencing results more useful to more people sooner.
|Share |||Randall Parker, 2010 July 18 11:37 AM Biotech Advance Rates|