Posts Tagged ‘DIY Bio’

Testing DTC Genomic Testing I

Monday, November 14th, 2011

Now that we’ve all gotten over the shock of being able to order a genetic test through Amazon.com, we can begin to actually ask some useful questions about DTC genomic testing and its utility.  Not much is really known about how useful it is.  However, in the tradition of Hippocrates, the first question we must ask is “is it harmful?”

The medical research community was all over the task once the DTC genomic testing services emerged from the intellectual garages of Silicon Valley and elsewhere and hit the streets.  Two studies of note asked the question above, using Navigenics’ service as a model.  The first paper was published by Bloss and colleagues in the New England Journal of Medicine in February of this year.  Just last month, James and colleagues published another study of the effects of DTC genomic testing in the Proceedings of the Mayo Clinic.  Neither paper reported any untoward effects of genomic testing under these circumstances on the test population.

More studies of DTC genomic testing are in the offing, I’m sure, in addition to the commentary and other reports on the technology so far published.  Now might be a good time to take a longer look and ask some of the interesting questions about DTC genomic testing, what it means, and why it created such a commotion.  I am in the process of shifting through many of these reports and opinions and will write another post soon on the subject.

Genome Hacking

Wednesday, January 5th, 2011

How genetic information will flow and be used is of interest to me in this environment of ever-cheaper and ever more rapid DNA sequencing.  What used to be fairly privileged, esoteric information is rapidly becoming a commodity item.  How will this affect our daily lives?

The prediction of heath states in the future, which is one of the uses of genetic information, could be of interest to not only the person whose DNA is being sequenced, but also of others who interact with this individual, for example, political opponents.  This was highlighted by stories from the Iceland Review and the Guardian, based on confidential cables leaked by Wikileaks.

The former story discusses a cable from the US embassy in Iceland regarding the possibility of Chinese spying on DeCode Genetics.  The latter story discusses a US State Department cable regarding collection of “biometric data”, including DNA, among other things, from individuals abroad.  Neither story reports on confirmed “DNA identity spying”, if you will, but together with stories, such as this one from the New Scientist, in which one reporter “hacked” the genome of another reporter by “surreptitiously testing” his DNA (with his knowledge in this case), these stories raise the specter of a flood of unauthorized DNA sequencing.

What could the response to this potential loss of privacy?  I wonder if at least some public figures would proactively have their genomes sequenced in anticipation of someone sequencing a sample of their DNA obtained in a clandestine manner.  I imagine most would find it better to control the circumstances of release of that type of information than to leave that control to some potentially unfriendly party.  In the extreme, would this ultimately lead to many individuals proactively sequencing their genomes to retain control over how to “spin” their health status?

So far, “genome hacking” does not appear to be a rising tide.  Since genomic information is really just another form of biometric information, like blood type or eye color, it may never create the huge stir that some fear.  As the conversation continues around how to use genetic information, this will be an interesting area to watch.

DTC Genomic Testing Meets DIY Bio

Wednesday, October 13th, 2010

Genomeweb just ran a story highlighting an article by Steven Salzberg and Mihaela Pertea on Do-It-Yourself Genetic Testing.  In the article Salzberg and Pertea demonstrate software that scans human genome sequence data for mutations in the BRCA1 and BRCA2 genes.  The primary motivation for the article seems to be to make the point that patents on gene sequences are inappropriate.  To wit, if I am able to obtain my genome sequence from a private source (via DTC genome sequencing) and I have the software to scan my genome sequence for mutations in one or another gene, why should I have to pay Myriad Genetics to scan that sequence for mutations in my BRCA genes?

To dig a little deeper into this notion, consider the following scenarios.  I have friends who know I have the computational resources to scan DNA sequences for mutations; why can’t I do that for them without paying a license fee?  I open a business to do this computational scan for anyone who brought their DNA sequence to me for a modest fee; using software that I constructed for the purpose.  Do I now owe Myriad Genetics their license fee?

It seems to me that, as in the first case above, requiring individuals to pay up to analyze their own DNA is pretty hard to defend.  Furthermore, it is probably unenforceable.  In the last case I listed, it seems fair that Myriad might get a fee, but probably for the method, not the sequence.  It still seems to me that it is unreasonable for an outside entity to own fundamental information about individuals, such as the sequence of their genes.