Kif 6, Genetic Findings = Useful Medicine 1 in 1000 times

Way back in 2008 I mentioned an article, which I hoped would pan out. Or at least I hoped it would point the way to a model of PGx research which would be followed by pharma and alike to find associations to help us target the right medication for the right patient.

While the similar model followed through with Plavix, the initial study did not.

Which is why when the Berkeley Heart Lab guy came last week, I told him I would not be testing for Kif6. It had not been replicated in further GWAS.

Heck, I don't even use the 9p21.3 test......Why?

A VAP cholesterol panel, a HsCRP, a family history and a blood pressure can help me predict risk much better.

The problem and backlash facing DTCG and DTMD genetic test purveyors is

the 'Ol "Your million dollar major study now rushed to market has just been refuted"

Yes this happens in biomedical science and in medicine ALL THE TIME.

Bed rest for MI anyone?

Low Dose Dopamine?

I could go on and on, but I won't

Put simply, the majority of the genome is NOT ready for clinical medicine or clinical decision making.

It won't be for 20 years.

That doesn't mean there aren't some things we can use.

1. BRCA1/2

2. MMR genes

3. CYP2C19

4. CYP2D6, sometimes.....

5. SCD genes

6. Counsyl universal carrier screening

That is why the FDA is all hepped up about DTCG and even DTMD.

If a gene test comes to market that purports disease risk it had better be studied for at least 5 years before it comes to market.

Post market surveillance did not protect all those patients on Statins, "just because" of Kif6 risk.

Get it? These tests can lead to incorrect medical decisions....

Which can lead to risk.

Yes, even the DTCG tests can fool doctors and patients.

The Sherpa Says: If 2008 was the year of the GWAS, will 2011 be the year of the overturned GWAS?

Sergey wants to be Coriell and Navi didn't read AHRQ

I have begin to think, Charlie Rose is compromised by the people in Mountain View......

He has 23withoutSergey on the TV and here's Anne, blabbing about how amazing and important Factor V Leiden testing is and how "Wouldn't You Like to Know you were at risk Charlie?"

This just days after AHRQ released there report saying that when it comes to blood clots, this test is basically not indicated and not useful......

In addition, and what I may have failed to mention is Anne blabbing about how we need a good way to cohort patients, give them test results and follow up surveys online.

She basically was reading from the informed consent methods section of Coriell's Personalized Medicine Collaborative............

Which leads me to believe that Mike Christman has had it right all along..........Evaluate the science behind each SNP, give it away for FREE and release information that you wish to study.....which is why I was surprised 23andSergey didn't give their hobbled service out for FREE!!! Like TruGenetics is doing....

If there is one thing going on here, it is that 23andSergey is slow on the research uptake. Heck, Navi made this leap immediately after they heard about Coriell......They piled on Eric Topol and started the Scripps study.......

But alas, Navi was a little slow on the clinical side.....I say this because they are now "releasing" the results of 5 other conditions.........What's on the list? You gessed it. Factor V Leiden. Didn't they read my post? Come on Dietrich, we talked.......what is going on there???? Also they must not have read the AHRQ or USPSTF reports on HFE testing either, because that is not recommended either..... These should be studied, not SOLD!

The Sherpa Says: Don't trust Charlie on Genomics, I think he's in the tank for DTC.....

Ahh CRP, Genotyping is such sweet superstition!

Recently in the Journal of the American Medical Association an article Entitled Genetic Loci Associated with CRP levels and Risk of Coronary Heart Disease...... Long name, useful article.......

Why so useful?

Because it proves quite a point.

What is that point?

In most genetic associations the causal relationships are not proven. These studies are merely associations..... Much like what I like to call superstition...... Perhaps you have heard of some of these?
If you spill salt and then throw it over your opposite shoulder you will avoid bad luck

If you break a mirror you have seven years of bad luck

If the cows are sitting down, it's going to rain.

Don't leave a fan on in a closed room or it will suffocate the occupants

Don't allow a cat to be in the room with a baby or it will suffocate the baby

I could go on here, but I think you get the point. There are millions of observations in this world which are so strong that they get carried on through folklore as if they are correct associations.

I am concerned that this genetic exceptionalism which is in the press and with the DTC genomics companies may create a whole new level of superstition........

"If you have SNP x then you will get disease Y............some of the time"

And it will be self fulfilling......trust me, you will see cases of this coming true being published as anecdotal reports, which will only strengthen this superstition about SNPs and maybe even other genetic findings like CNVs or other rare changes.....

This is why I laugh with associations without biology worked out.......

This is precisely what our ancestors did when the kept the sword which wounded them in a cool place to reduce the inflammation of the wound.......

Frankly, I think that using SNPs in this fashion is the EXACT SAME THING.......

So these people who are considered early adopters and are "cutting edge" here with 23andSergey scans or CEOs of DTC companies are actually nothing more than CAVE DWELLERS.......

This study in JAMA shows a smiliar finding. CRP also known as C-reactive protein is associated with increased risk of heart disease.............there are certain SNPs which are also associated with elevated CRP levels.....so using rat brain thinking, we postulate that the SNPs must ALSO be linked with increased risk of heart disease....... WRONG!!!!

rs6700896, rs4537545, rs7553007, rs1183910 and rs4420638 contribute nothing to risk for heart disease, but are significantly linked with elevated CRP.....

Which goes to show that there is a problem which cannot be solved by our current mode of thinking. Because there is a problem with the way in which we think.

And those who huddle together telling stories about there genome scans are nothing more than cave people exchanging superstitions.........

The Sherpa Says: Stick to the science, look for biological explanations and then look for clinical application. Without those things, you have nothing better than a divining rod people! Didn't someone call them Saliva Diviners? HT Misha. Oh, and Francis, Told Ya So in 2008!