Yesterday’s post talked about my recent “plunge” into the world of genetic testing via participation in the Scripps-Navigenics study. A comment by Microsoft HealthVault’s Chief Architect, Sean Nolan addressed one of my questions: Exactly what would be the data type that Navigenics would pass over into one’s HealthVault account? Sean stated that it would be about as rich a data set as possible with importation of the complete SNP files and stored in NCBI dbSNP format.
This got me to thinking last night that the real long-term value of genetic testing may not be in understanding one’s predispositions to specific diseases, though that is what the Scripps study (and Navigenics marketing) is focusing on. Rather, the true value (or at least larger value proposition) may come in a few years time when this rich genetic information is combined with one’s medication regime to develop a more personalized and effective medication protocol.
No, screening genomic information has not value at all. Just a hype.
No diagnosis value, no prognosis value, no personalized medicine value.
At this moment, our knowledge about genomic link with diseases is so poor that your genome cannot be interpreted at all. It is more harmful than harmless (inaccurate information about prognosis is very dangerous as any doctor knows).
I am a family physician with special interest in medical decision making with years of experience in bioinformatics applied to pharmacogenomics. All these services of genetic testing are just a hype, trust me. The problem is that are a potential harmful hype for the health of the patients.
I recently wrote a post about this in my blog. It is in spanish but you could use a kind of translator in any case:
http://gofiococido.blogspot.com/2008/12/23andme-y-la-nueva-burbuja.html
http://translate.google.com/translate?hl=es&ie=UTF-8&u=http%3A%2F%2Fgofiococido.blogspot.com%2F2008%2F12%2F23andme-y-la-nueva-burbuja.html&sl=es&tl=en&history_state0=&swap=1
drbonis-
Wake up! It is 2009.
Just because study of gene expression is a complex and evolving field, does not mean that pharmacogenomics has no value. This is why many in the clinical community are still working with paper-based medical records.
As an aside, when my wife was wife was diagnosed with ductal carcinoma 2 years ago, Johns Hopkins had a password-protected web service that provided probabilities of different cancer therapies (including medications) based on various personal and disease attributes.
I agree with “John”, but of course, I did a postdoc in Molecular Biology at the Scripps Research Institute…