4 ms·

Unfortunately, Steve has it all wrong. I appreciate his point of view, but his proposed solutions are just not right. To me, this move smells of lobbyists. I

by bbgm 18y ago

Unfortunately, Steve has it all wrong. I appreciate his point of view, but his proposed solutions are just not right. To me, this move smells of lobbyists. I like Tom Goetz' response http://blog.wired.com/wiredscience/2008/06/attention-calif.html http://blog.wired.com/wiredscience/2008/06/attention-calif.h...

rms 18y ago
Steve takes it to an extreme conclusion, but I think whether he is right or wrong, his ideas are ultimately going to be carved into legislation. Right now the bigger problem is education about genetic testing and genomics. There is a lot of work to be done in this space. 23andme and Navigenics provide reasonable informational genetic testing. But they are only so useful because they purposely avoid testing for high penetrance mutations. http://www.thinkgene.com/absence-of-high-penatrance-in-snp-genomic-services/ http://www.thinkgene.com/absence-of-high-penatrance-in-snp-g... High penetrance tests are the ones that are really medically important, and in the coming years of genomic medicine, Navigenics and 23andMe can only get so far without high penetrance tests. Unfortunately most of the high-penetrance tests are patented, but the patents will be gone by the time everyone can afford a real genome scan. If you've had a 23andme test, you can actually dump the raw data and check yourself for some patented high penetrance genes. http://www.thinkgene.com/tell-me-everything-how-to-use-snpedia-for-23andme-and-decodeme/ http://www.thinkgene.com/tell-me-everything-how-to-use-snped...
- bbgm 18y ago
  I believe 23andme uses the Illumina marker panel + some additional custom markers. First of all a diagnostic array will almost never be a high throughput array. Illumina doesn't market its 550K or 1M chips for diagnostics. The diagnostic assay will use something like beadxpress or other targeted chip. The business model is one of providing information, that's it. If that's going to be regulated, the only regulation should be in ensuring CLIA facilities, and making sure that the companies do not offer services that might make patients think that they were providing a diagnosis (Navigenics is the one I worry about here). Having been directly involved in this space over the years, it's clear that a lot of work is needed, and even if we knew about disease causing SNPs and had high risk factors, we really don't have the drugs that are married to any diagnostics yet (with exceptions), but that shouldn't stop us from getting access to the information, especially since the costs pretty much act as a barrier at this time.

by bbgm 18y ago

rms 18y ago

Steve takes it to an extreme conclusion, but I think whether he is right or wrong, his ideas are ultimately going to be carved into legislation. Right now the bigger problem is education about genetic testing and genomics. There is a lot of work to be done in this space. 23andme and Navigenics provide reasonable informational genetic testing. But they are only so useful because they purposely avoid testing for high penetrance mutations. http://www.thinkgene.com/absence-of-high-penatrance-in-snp-genomic-services/ http://www.thinkgene.com/absence-of-high-penatrance-in-snp-g... High penetrance tests are the ones that are really medically important, and in the coming years of genomic medicine, Navigenics and 23andMe can only get so far without high penetrance tests. Unfortunately most of the high-penetrance tests are patented, but the patents will be gone by the time everyone can afford a real genome scan. If you've had a 23andme test, you can actually dump the raw data and check yourself for some patented high penetrance genes. http://www.thinkgene.com/tell-me-everything-how-to-use-snpedia-for-23andme-and-decodeme/ http://www.thinkgene.com/tell-me-everything-how-to-use-snped...

bbgm 18y ago
I believe 23andme uses the Illumina marker panel + some additional custom markers. First of all a diagnostic array will almost never be a high throughput array. Illumina doesn't market its 550K or 1M chips for diagnostics. The diagnostic assay will use something like beadxpress or other targeted chip. The business model is one of providing information, that's it. If that's going to be regulated, the only regulation should be in ensuring CLIA facilities, and making sure that the companies do not offer services that might make patients think that they were providing a diagnosis (Navigenics is the one I worry about here). Having been directly involved in this space over the years, it's clear that a lot of work is needed, and even if we knew about disease causing SNPs and had high risk factors, we really don't have the drugs that are married to any diagnostics yet (with exceptions), but that shouldn't stop us from getting access to the information, especially since the costs pretty much act as a barrier at this time.