tag:blogger.com,1999:blog-6173393362223742012.post1121290789878174629..comments2023-08-24T08:30:25.608-07:00Comments on Gene Sherpas: Personalized Medicine and You: Guest Post Today, Hopefully he doesn't get Flamed!Steve Murphy MDhttp://www.blogger.com/profile/11774190000307343476noreply@blogger.comBlogger4125tag:blogger.com,1999:blog-6173393362223742012.post-24118553534333189962008-06-21T06:14:00.000-07:002008-06-21T06:14:00.000-07:00"....He too presents some old data and has so..."....He too presents some old data and has some incorrect commentary" <br><br>But, It's more than incorrect, the underlying assumptions are plain good old wrong: 1) "...As a result, the consumer has a test result that they can't do anything about.." is wrong in general for a lot of different tests where preventive measures exist, and especially wrong for BRCA-testing; 2) "...the health professional can't rely on the test result because it didn't go through proper testing and counseling protocol." is wrong because the accuracy of these tests is well established and because it's becoming evident that genetic counseling is loosing relevance due to the finding that genetic tests results does not have the profound impact one once thought they did (see http://sciphu.wordpress.com/ for more on this).<br><br>The most worrying error though, is the assumption that seeing a physician would lead to anything resembling the information he would like the patients to have. The information you get from 23andMe is probably many-fold better than the average physician could give you and judging from the knowledge displayed by some of the genetic counselors I know, - probably just as good or better than the counsel they would give as well.sciphuhttp://sciphu.wordpress.com/noreply@blogger.comtag:blogger.com,1999:blog-6173393362223742012.post-86867872378905584092008-06-21T11:31:00.000-07:002008-06-21T11:31:00.000-07:00Sciphu,"I can tell you that I live in a count...Sciphu,<br><br>"I can tell you that I live in a country where genetic testing is regulated extensively: any pre-diagnostic or pre-symptomatic test can only be done by a few authorized (public) medical genetics centers, and must be followed by genetic counseling both before and after testing. These strict test-definitions actually include “innocent” tests like cyp-testing for pharmacogenetics. I can promise you that you do not want a situation like this. Over-regulation hinders progress and takes away personal freedom."<br><br>I totally agree with you in this excellent aspect. We should be expanding the services not restricting them. But that expansion should be done responsibly, ethically, and with a duty to the consumer/patient to follow up results. If your provider/SNP company can't guarantee accurate follow up, then you shouldn't receive the testing. I can't assume the patient/consumer to do that theirself (is that a word?). It is my responsibility as a physician to do that follow up. This is the HUGE difference between a healthcare provider and a company. <br><br>-SteveSteve Murphy MDhttp://www.blogger.com/profile/11774190000307343476noreply@blogger.comtag:blogger.com,1999:blog-6173393362223742012.post-67697686110325654362008-06-21T11:57:00.000-07:002008-06-21T11:57:00.000-07:00Quote: "The information you get from 23andMe ...Quote: "The information you get from 23andMe is probably many-fold better than the average physician could give you and judging from the knowledge displayed by some of the genetic counselors I know." <br><br>Show us the data, schiphu. Until you have data to support your argument, your argument doesn't hold any water. <br><br>Quote: "As a result, the consumer has a test result that they can't do anything about.." is wrong in general for a lot of different tests where preventive measures exist." <br><br>A consumer can't do anything with genetic information if they don't know the best preventive measures or even what the preventive measures would be. If a personal genome company offers any preventive advice, then they are practicing medicine. A consumer also needs to take into account the family history with a preventive measure.<br><br>Quote: "the health professional can't rely on the test result because it didn't go through proper testing and counseling protocol." <br><br>If I own a personal genome company, can I fund a study to show a SNP to disease correlation and then market the test without no replication or regulated review process? <br><br>I personally think the author of this blog post did a great job of showing a good example of how complex genetic testing can be.Anonymousnoreply@blogger.comtag:blogger.com,1999:blog-6173393362223742012.post-11000493486084340302008-06-23T06:07:00.000-07:002008-06-23T06:07:00.000-07:00To anonymous. When it comes to documenting genetic...To anonymous. When it comes to documenting genetic illiteracy among physicians, you should consult the Sherpa for the documentation (start with a post called: "beware doctors bearing genetic tests", and you'll find the documentation you need). When it comes to genetic counselors however, I need to admit that the evidence is anecdotal and apologize if this did not communicate properly. Life-style advice (preventive measures) are given by many, not only medical professionals (nutritionists, personal trainers, journalists, what have you...), thus, giving such advice is not necessarily "practicing medicine". Lastly, to my knowledge, the "responsible" DTC companies provide scientific references association with disease, and besides, my point was on the test accuracy when it comes to false positive results (which is well established for SNP-analyses), not the disease association.sciphuhttp://sciphu.wordpress.com/noreply@blogger.com