Think Gene: The Unusually High Standards of Genomics
Kevin Fischer
· 1 year ago
Wow, they really do say medical advice in that press release. Good catch.
Steven Murphy MD
· 1 year ago
Andrew, If they didn't want the scrutiny, they could have picked another field.....Geneticists have been picky from the very beginning, Medical geneticists even more so........They entered a field with several barriers to entry and now you are complaining about the scrutiny which everyone in this field faces? Maybe 23andMe is off the hook if they decide only to do ancestry and non-medical risk SNPs, but by putting medical risk SNPs on their chip....guess what? They enter the field too.......Welcome to the Jungle......
The company that worries me more is Genewize. I am a physician and they sent a representative to my office. They test 12 SNP for common enzyme disorders like MTHFR for $200 and then for $100/month they formulate personalized vitamins that are supposed to optimize the function of your deficient enzymes. They were unable to show me any evidence in a peer reviewed articles. When is the FDA going to start regulating the supplements industry?
Andrew Yates
· 1 year ago
You are very right, but I'm picking one target at a time and in my own industry. Further, the buzz is that a crackdown is coming...
hfjdksk
· 11 months ago
Singles ONLY project
In contrast to multifactorial diseases, the genetic basis of many monogenic disorders appears to be firmly established. It is published, summarized and explained on paper or in highly regarded databases such as a series of reviews in http://www.genetests.org/ (recently moved to the NCBI bookshelf, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?b... ).
There are thousands of recognized single gene (monogenic) disorders. Their cumulative incidence is roughly 1%.
Also, the penetrance is usually very high with single gene disorders. So must be the clinical validity or utility of the DNA tests.
Modern methods of genome analysis could probably be capable of detecting all single-gene disease mutations listed in the Genetests reviews over single run (next-generation DNA sequencing or high density array hybridization).
Conceivably, in the clinical diagnostics setting the computer-annotated sequence data must be reviewed and verified by a knowledgeable physician. The physician carries the brunt of responsibility for the patient life and welfare. Being that he/she is put in the position of the ultimate judge on whether or not the information produced by Navigenics or similar company can be useful or helpful.
For some time I have been wandering about the web in the hope of finding encouraging testimonials on the use of personalized genomics in the medical practice coming from the medical practitioners. But I have found essentially nothing.
Thus, the rapid comprehensive analysis of the genes involved in single-gene genetic disorders appears to be both feasible and not available.
Does anybody do that? If not, what is the matter?
Andrew Yates
· 11 months ago
Patients and liability, foremost. But good question. Why DOESN'T that test exist? I think it will in the next ten years when full genome sequencing is more prevalent.
Paul
· 8 months ago
Perhaps the biggest economic threat gets the greatest scruitny?
All Comments
If they didn't want the scrutiny, they could have picked another field.....Geneticists have been picky from the very beginning, Medical geneticists even more so........They entered a field with several barriers to entry and now you are complaining about the scrutiny which everyone in this field faces? Maybe 23andMe is off the hook if they decide only to do ancestry and non-medical risk SNPs, but by putting medical risk SNPs on their chip....guess what? They enter the field too.......Welcome to the Jungle......
-Steve
www.thegenesherpa.blogspot.com
In contrast to multifactorial diseases, the genetic basis of many monogenic disorders appears to be firmly established. It is published, summarized and explained on paper or in highly regarded databases such as a series of reviews in http://www.genetests.org/ (recently moved to the NCBI bookshelf, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?b... ).
There are thousands of recognized single gene (monogenic) disorders. Their cumulative incidence is roughly 1%.
Also, the penetrance is usually very high with single gene disorders. So must be the clinical validity or utility of the DNA tests.
Modern methods of genome analysis could probably be capable of detecting all single-gene disease mutations listed in the Genetests reviews over single run (next-generation DNA sequencing or high density array hybridization).
Conceivably, in the clinical diagnostics setting the computer-annotated sequence data must be reviewed and verified by a knowledgeable physician. The physician carries the brunt of responsibility for the patient life and welfare. Being that he/she is put in the position of the ultimate judge on whether or not the information produced by Navigenics or similar company can be useful or helpful.
For some time I have been wandering about the web in the hope of finding encouraging testimonials on the use of personalized genomics in the medical practice coming from the medical practitioners. But I have found essentially nothing.
Thus, the rapid comprehensive analysis of the genes involved in single-gene genetic disorders appears to be both feasible and not available.
Does anybody do that? If not, what is the matter?