Tuesday, December 20, 2011

2011 Comes to a close. What we know about Personalized Medicine

I wanted to write a wrap up of what we know in the last 4 years regarding personalized medicine

1. In regards to DTC Genetics, the FDA won't shut you down if you are google. But you will have to give your test away for free to build your database

2. In regards to Pharmacogenomic testing, most doctors won't use the service despite studies showing utility that have existed for 2 years.

3. In regards to GWAS predisposition testing, it is mostly useless. It doesn't scare or heal you.......most of the time

4. Classical Cancer Genetics, Cardiogenetics, GI Genetics and preconception genetics have growing concerns as I am seeing more and more of these over the last 2 years.

5. When Whole genome or exome testing come out, we will have a mess load of data. This is an opportunity if someone can create subtractive algorithms to the "normal" data. Which may help us out....IFF we have a true "Normal Genome"

6. The Sherpa has been slow in posting, but these points are facts now.

The Sherpa Says: 4 years, a lot of hype, lots of sideways climbing. Next year will show big moves, just like 2007/2008 and we'll still be here.

Saturday, September 3, 2011

Back again, 23andMe still $hits the bed with their reports

In case you haven't noticed. I dropped off the blog radar for a while. I had some growing to do of the practice and some streamlining. I read
Daniel MacArthur's post with great interest this week. It describes clinical utility of 23andMe testing......

The one thing I haven't stopped doing is counselling patients on DTC Genomic reports.

Just yesterday I was consulting a very nice patient. They told me they just had to speak with a doctor because the report indicated that they were at increased risk of stomach and esophageal cancer. They had been up for several nights reading about it. Further, when brought to their PMD, the PMD smiled and didn't offer up any advice.

Well, first let me preface by saying, 23andMe's SNPs which they list 4 huge freaking stars of "CON"fidence for, on Esophageal and Stomach Cancer risk, while BTFW only ranking studies on Han Chinese. And only 2 studies at that.......

This report had this patient seriously concerned. Until of course I took a G-D Damn pedigree and found out they had ZERO, I repeat ZERO Asian ancestry/ethnicity, let alone Han Chinese....

The risk report from 23andSerge listed them as high risk. How in the world did that work?

(BTW, if you don't believe me, just ask and I will send you the time stamped pdfs, with name redacted of course)

You know why that worked? Because the brainchildren at the Google owned company forgot to put an ethnicity/ancestry filter on their reports. Instead they just felt that an asterisk would work just fine.....

Well Guess what 23andMe, you haven't changed at all. Even after the FDA got on your A$$. Your reports still are misleading and are causing undue angst.

Lucky for you, Myself and Dr Lubin are around to pick up after your mess......

Can you see why someone needs to look at and police these reports? This poor patient had serious concerns and when brought to a clinician who couldn't understand the SNP studies could end up with not needed endoscopies which would put the patient at risk. Primarily due to physician malpractice avoidance behavior?

Don't think that hasn't happened? Think Again.

The Sherpa Says: I am back again at it because clearly the millionaires with a penchant for DNA peddling and CPU coding can not get this right......Clearly a #FAIL

Friday, March 25, 2011

Non-Clinician Misinterpretation of DTC Genetic testing


In case you haven't all figured it out. Blogs are dead. Mine is too, sorta. I have less and less time to blog as my practice explodes. But there are some things that just merit a blog post.

I am on twitter, you can follow me there @genesherpas

But now I am on the Sherpa. Yes, the blog that nearly got me on 60 Minutes and definitely won me the hearts of USA Today to be interviewed...BTW the practice got super busy after that......

Today I want to talk about something more serious.

The FDA hearings have laid the course clear. Direct To Consumer Genetic testing will be regulated.

1 part potential harm
2 parts irreverence for laws and medical regulation
3 parts flagrant misrepresentation of what genetic tests can do.......

Today on twitter Shirely Wu @shwu retweeted something that was the picked up by @dgmacarthur..... great geneticist, but not a medical geneticist........

That was:

A thoughtful and eloquent case-study petition to keep genetic testing DTC: from @

The problem?

I respect Shirley a lot, but this article is not thoughtful, nor is it eloquent.
Instead it is full of misinterpretation and IMHO an ignorance of the role of genetic testing in hereditary hemochromatosis.....

In no way is HFE genetic testing required or indicated to pick up a person with hereditary hemochromatosis.

There are multiple genes involved in hereditary hemochromatosis only testing HFE and thinking you are "off the hook" is stupid.....

In other words, perhaps the cheerleaders for DTCG are misinformed about the true utility of this type of testing. Further, if they knew the literature, perhaps they would be less angry that the FDA(who know the data BTW) want to regulate against these types of misinformed claims that could lead to misinterpretation by consumers and end up fleecing their pockets for fools gold.

Let's take this little gem from @celticcurse

"A simple genetic test is all it takes to know if hereditary hemochromatosis, the most common genetic killer in America, is in your genes."

Bull$h!t buddy.....less than 30% of HFE variant persons ever develop the disease. Do me a favor, partner with a doctor to hack your health next time please......

In case you wondered, iron studies are the key to screening. I get them in every northern european or any family history of liver disease, gonadal failure, arthritis, etc......

But, the lab heads wouldn't know that. Which is why lab heads shouldn't release discoveries into the wild......

The Sherpa Says: This retweet blog post by CelticCurse is an eloquent reason WHY DTC genetic testing should be regulated for claims and use......regulate the medical as a medical test, let the ancestry buffs do their thing sans FDA. End of story guys.....

Wednesday, February 2, 2011

Coriell and OSU integrate GWAS into an EMR!

Ok, so enough with the acronyms.....

I am back and will be blogging more often again. So for those who still lurked around, tell the others that the Howard Stern of Genomics is back. I took a social networking holiday for a solid 2 months, plus the addition of having my practice change quite a bit after my USA Today and follow ups in the local papers.....

Today I want to announce that Coriell Personalized Medicine Collaborative and Ohio State University will be using data from an arm of the CPMC and OSU to integrate genetic risk data into the medical record.

Correct me if I am wrong, but I don't know of anyone else doing this exact same thing.

Ideally they will also continue to roll things in like PGx data. (I know this data will be coming soon)

By integrating things like Plavix response, you can make more gametime decisions easily.
I.E. Patient presents to the ED with a heart attack. Armed with prior knowledge about plavix nonresponder, you pick Effient.

What is so awesome about this arm is that Primary Care Physicians, Cardiologists AND patients will be participating and receiving results.....

They will be studying the behavior and knowledge of participants in the study, we have seen other data on this sort of thing, I wonder if we will see the same thing here.

For risk data? Probably. For PGx Data? Probably not.

Why? A plavix response in the medical record is a game changer.
3 Reasons

1. The clinician will be hit in the face with a "Plavix doesn't work here"
2. The physician may even find they are a nonresponder
3. There has got to be some hustling attorney out there, who will be lurking once they see the CPMC/OSU release. I am certain at least the physicians will be thinking so.....

The Sherpa Says: Study of clinical use and behaviors will be key to know how vital this data is and thus how tightly we should regulate its use in medical records i.e. 23andMe clinical BRCA testing! P.S. Like our new crest?