{"id":13070,"date":"2010-03-25T20:08:33","date_gmt":"2010-03-25T20:08:33","guid":{"rendered":"http:\/\/euvolution.com\/futurist-transhuman-news-blog\/pgx-in-dtcg-doesnt-stand-up-to-useful-testing\/"},"modified":"2010-03-25T20:08:33","modified_gmt":"2010-03-25T20:08:33","slug":"pgx-in-dtcg-doesnt-stand-up-to-useful-testing","status":"publish","type":"post","link":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/genetic-medicine\/pgx-in-dtcg-doesnt-stand-up-to-useful-testing.php","title":{"rendered":"PGx in DTCG? Doesn’t stand up to Useful testing."},"content":{"rendered":"

\"\"<\/a>
HT Don Rule today as well as the ENTIRE Pharmacogenomics<\/span> Advisory Group<\/a> that I am a proud member of.<\/span><\/span><\/p>


<\/span><\/span><\/div>
Don wrote this comment a few days ago<\/span><\/span><\/div>

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\"<\/span><\/span>I was curious about what SNPs<\/span> the DTC<\/span> companies offer so I wrote a little applet (http:\/\/snpweb.cloudapp.net\/#\/PharmGKBSNPs<\/a>) to compare them to the SNPs<\/span> in PharmGKB<\/span>. It turns out the the Cytochromes<\/span> are particularly sparse.\"<\/span><\/span><\/span><\/div>

<\/span><\/span><\/span><\/span><\/div>
Well Don, you are correct. Even more so, as we began to review SNP<\/span> data it became crystal clear on Monday.<\/span><\/span><\/span><\/span><\/div>

<\/span><\/span><\/span><\/span><\/div>
The reason I was pissed about 23andMe<\/span> doing the CF testing is because they missed hundreds of potential carrier alleles. What was even more so angering when I realized, you could be \"tested\" by one of these DTCG<\/span> companies for \"Plavix<\/span> Metabolism\" and come up with the absolute wrong answer. <\/span><\/span><\/span><\/span><\/div>

<\/span><\/span><\/span><\/span><\/div>
Imagine that. Most people turn to DNA for an \"absolute call\" but when you don't look for the right SNPs<\/span> or all of the needed SNPs<\/span>, you miss a whole bunch.<\/span><\/span><\/span><\/span><\/div>

<\/span><\/span><\/span><\/span><\/div>
Quick story. I had this pulmonologist<\/span> physician, an elder statesman, super smart, Ivy league trained come up to me and say \"Hey Steve, can you help me out?\"<\/span><\/span><\/span><\/span><\/div>

<\/span><\/span><\/span><\/span><\/div>
He is a sleep doctor too. He said \"I have been trying to test for this narcolepsy gene and I can't get the right answer\"<\/span><\/span><\/span><\/span><\/div>

<\/span><\/span><\/span><\/span><\/div>
I said \"Sure Dr. X, what do you mean 'keep getting the wrong answer'?\"<\/span><\/span><\/span><\/span><\/div>

<\/span><\/span><\/span><\/span><\/div>
He Said <\/span><\/span><\/span><\/span><\/div>

<\/span><\/span><\/span><\/span><\/div>
\"Well I am <\/span><\/span>looking for HLA<\/span> DQB<\/span>1<\/span><\/span><\/a> and they keep telling me about this HLA<\/span> DR, I have sent this test 3 times now and still gotten no information about HLA<\/span> DQB<\/span>1.\"<\/span><\/span><\/span><\/span><\/div>

<\/span><\/span><\/span><\/div>
I did a big 'ol<\/span> face palm.<\/span><\/span><\/span><\/div>


<\/span><\/span><\/span><\/p>

Quest, where he had sent the blood, did not test for HLA<\/span> DQB<\/span>1<\/span><\/span><\/a><\/span><\/div>

<\/span><\/span><\/div>
Instead it searched for an imperfect haplotype<\/span>......<\/span><\/span><\/div>

<\/span><\/span><\/div>
That's the problem. If you don't test for exactly what you are looking for, you will never find it. Nor will you have the correct clinical answer.<\/span><\/span><\/div>

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If you only test 2 SNPs<\/span> for CYP<\/span> 2C19, you will never be able to accurately predict what someone's<\/span> metabolizer<\/span> status is. <\/span><\/span><\/div>

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What people should be using to assess metabolizer<\/span> status of medications is something like the DMET<\/span> Plus with additional PCR<\/span> or another platform. AmpliChip<\/span> does a nice job, but we have to be serious when it comes to medical care.<\/span><\/span><\/div>

<\/span><\/span><\/div>
You Cannot, I repeat Cannot take the advice from 23andMe<\/span> when it comes to metabolizer<\/span> status for Plavix<\/span>.<\/span><\/span><\/div>

<\/span><\/span><\/div>
Please, please, please listen to me.<\/span><\/span> Even 23andMe<\/span> states it on their post about Plavix<\/span><\/span><\/span><\/a><\/div>

<\/span><\/span><\/div>
This DTCG<\/span> test is not ready to be used in the clinic or even trusted to tell your metabolizer<\/span> status. Right now, they are not testing enough SNPs<\/span> for me to be happy with it and use it in the office.<\/span><\/span><\/div>

<\/span><\/span><\/div>
Don't stop your Plavix<\/span>! Instead go get a clinical pharmacogenomic<\/span> test done by someone who understands the limitations of the labs.<\/span><\/span><\/div>

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That drunk who lost their keys is still looking under the lamposts<\/span> because that is where the light is..........<\/span><\/span><\/div>

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That is a stupid way to do clinical pharmacogenomics<\/span>.<\/span><\/span><\/div>

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The Sherpa Says: Pretending to be clinical without standing up to clinical rigor is a recipe for disaster. I await the lawsuit from in stent<\/span> thrombosis for the poor sap that trusts 23andMe<\/span> enough to stop their Plavix<\/span>.<\/span><\/b><\/span><\/span><\/div>
\"\"<\/div>","protected":false},"excerpt":{"rendered":"

HT Don Rule today as well as the ENTIRE Pharmacogenomics Advisory Group that I am a proud member of.Don wrote this comment a few days ago\"I was curious about what SNPs the DTC companies offer so I wrote a little … Continue reading →<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"limit_modified_date":"","last_modified_date":"","_lmt_disableupdate":"","_lmt_disable":"","footnotes":""},"categories":[5],"tags":[],"class_list":["post-13070","post","type-post","status-publish","format-standard","hentry","category-genetic-medicine"],"modified_by":null,"_links":{"self":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts\/13070"}],"collection":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/comments?post=13070"}],"version-history":[{"count":0,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/posts\/13070\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/media?parent=13070"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/categories?post=13070"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.euvolution.com\/futurist-transhuman-news-blog\/wp-json\/wp\/v2\/tags?post=13070"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}