Away and now back, What did I miss???? 23andme layoffs? Selling Genomes for cheap up next!

23andSerge has layoffs, big surprise.

When Linda left, she had a tribe that left too. I am working on hiring one or 2 and will see what exactly was going on over there......Likely a huge cash bleed

GAPPNet has their first meeting, which I missed.

I will email Dr. Khoury and find out how it went.

Daniel MacArthur pointing out that 23andSerge could have bashed bad science, yet instead promoted it......No surprise there either.

It looks like 23andSerge fired the engineers and scientists.....and kept the PR and marketing wonks.......

Well, in the end it is crystal clear

It turns out the lawyers questioned this as well as Misha.....Turns out, if you took the genome, then you probably can sell it.......better yet, if you "acquired it via firesale" you also can probably sell it and break all kinds of "terms of service"

What's important? Not having your genome sold off? What's important? Being able to be certain the person who has your information won't sell it to the highest bidder......Now do you see why it is important to have a doctor involved in this? We CAN'T sell it off. Even if we wanted to. It would be against the law......10 years in Folsom or 250,000 USD......OR BOTH!

The main problem is that a lot of people are confusing things.

What is important IS "What is important" not cocktail parties, blimps or CEO's from insurance companies

(hmmm, I wonder what Navigenics is thinking about doing with it's company?) Maybe Humana wants Navi, to profile their patients?

The Sherpa Says: Companies are most dangerous to their customers and the public when the chips are down. They often do unthinkable and crazy things........for cheap. Anything to survive, that is the motto of the startup. Do or should they have any loyalty to you, AFTER they already have your money? No, unless legally bound.....This is yet another reason why a doctor should be involved here.

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.....

Genetic Counselor sells suspect genetic tests!

Has anyone seen this company yet? Jordana J and Access DNA.

Jordana and the "Team" at Access DNA have a form which evaluated my extensive family history and have come up with a list of genetic tests I should be tested for......little did she know that this was a list for the Sherpa and the she as a Board Certified Genetic Counselor would have to be walking me through each and every one of these tests......Her "team" by the way is only her and some advisors.....2 of them have medical degrees, but none of them are giving advice...other than Jordana.....as far as I can tell........

So today I will call Jordana J and see if she can talk to me about some of the "recommended tests" and conditions....such as:

1. Whole Genome Scanning for Aneurysm Risk (Bogus)

2. Whole Genome Scanning for Asthma Risk (Suspect at best)

3. Whole Genome Scanning for Athletic Performance (Why not just play a sport?)

4. Stool Screening for Colon Cancer @ 575 USD a pop (Uh......family history?)

5. Whole Genome Scanning for Heart attack at 2500 USD a pop

6. Weight loss SNP testing for 424 USD.....(Maybe my pockets will be lighter)

7. SNP testing for lung cancer predisposition (What are THEY smoking?)

I hope you get the picture, these were just a few of the 37 genetic tests this board certified genetic counselor recommended I get.

The Sherpa Says: When the NSGC blasts me for pointing out that genetic counselors were never medically trained AND that they couldn't explain PgX or other medical conditions without a physician involved.....I find this....Jordana J, board certified genetic counselor going out and pushing suspect genetic tests. NSGC better get a hold of their membership. This is precisely my concern.......Does the phrase "Over your ski tips" sound reasonable? This is why physicians and counselors NEED to work together on personalized medicine, not CGCs alone on an island! Like the CGC at AcessDNA.

14 years and still no good genes!

I am preparing a talk for the Connecticut Geriatric Society and I am just can't get over it. We haven't found good genes for Late Onset Alzheimer's Disease since 1994. Sure we have SORL1, GALP and MAPT from the sexy Genome Wide Studies....but nothing increases risk like APOE Epsilon4.

In fact when you look at all the other genetic risks, NONE top an Odds Ratio of 1.5. Why do a I always harp on Odds Ratios? It's simple. If you can't beat the family history risk increase (300-500%) for a first generation relative, then you can't have much clinical significance, unless you have a multiple gene panel that does.

Why is clinical utility so important? Why not just test everyone with everything. I see several problems with this.

1. False Reassurances, patients are led to believe they won't get some devastating disease and thus fail to plan appropriately. And in some cases take preventative measure...This is called Harm to Patient and it is malpractice.

2. Inappropriate Action, there are several modifiable risk factors in many diseases. This often is argued as the reason FOR testing everyone. But this only assumes that modifying behaviors are actually good things. But, did you know some things like vitamins can actually be bad and promote things like cancers? So you mega dose on Folate and end up promoting breast or colon cancer because you found out that you "Process Folate poorly" on a Nutrigenomics test. And that is just Folate, what about preventative medications? Even more dangerous!

3. Exposure to Discrimination, as I stated in previous posts GINA has passed, but will not go into effect until 2009. In addition, GINA does not cover disability, life, or long term care insurance. Nor does it cover any form of discrimination outside of workplace or health insurance. Medical records can be subpoenaed. However, in most states it is illegal to ask for health records without good cause. Unlike corporate information, which can be bought and sold without YOUR permission! This includes identifying factors Ladies and Gentleman!!! This is why this testing should be done in the realm of healthcare protection.

These are merely 3 of the many reasons I see that we should not be applying SNP scans to everyone. There has to be some clinical significance for actions. If you want consumer enabled research, then you have to protect the consumer. Just as if they were a subject under the protections of an Institutional Review Board.

The Sherpa Says: I could go on a diatribe about this forever. But I have a talk to prepare. Imagine this 80% heritability and only 1 gene for Late Onset Alzhemiers....we must not be looking in the right place.

Let's give everyone Beta Blockers in Heart Failure!

Ok,
So some people have been talking about this wonderful polymorphism in African Americans. This polymoprhism is in the GRK5 gene. What does it do? Well, before I look at any polymophism I always ask. "What does the gene do?" GRK5, short for G-coupled protein receptor kinase, this kinase acts as a switch that essentially turns off receptors. Such receptors bind catecholamines, which are sympathetic system neurotransmitters like epinephrine and norepineprhine. They also bind peptide hormones such as angiotensin, which is implicated in high blood pressure. For the lay person....this gene helps regulate response to adrenaline and other hormones that are in overdrive with stress and in this case heart failure (the inability of your heart to pump your blood).

Why is this polymoprhism important? For a long time there was a thought that Beta Blockers did not help African Americans in Heart Failure. I kept thinking "This is stupid. Not everyone of the same race is the same." More importantly the data with which we applied this broad racist thinking was not the BEST. This applies for many things in medicine. We often jump to conclusions when not thinking genomically. The age old debate about coffee is the same story as well. Until viewed in the light of genetics and CYP polymorphisms, one could say that a cup of joe is bad or good for you. It turns out, if you process caffeine poorly, big surprise.........you are at increased risk. If you metabolize fine....no big deal.

So how does this help us treat heart failure in African Americans? Here's the zinger from the author Gerald W. Dorn II, M.D....

“By mimicking the effect of beta blockers, the genetic variant makes it appear as if beta blockers aren’t effective in these patients,” he explains. “But although beta blockers have no additional benefit in heart failure patients with the variant, they are equally effective in Caucasian and African-American patients without the variant.”

Bingo!! Clinically applicability. But here's the kicker. Will testing for this be clinically feasible? Will the cost be feasible? Some are saying no...including the guy who I just quoted

"That doesn't mean African-Americans with heart failure need to be tested for the genetic variant to decide whether to take beta blockers," Dorn says. "Under the supervision of a cardiologist, beta blockers have very low risk but huge benefits, and I am comfortable prescribing them to any heart failure patients who do not have a specific contraindication to the drug."

What the hell? He just said that the risk benefit was well in favor of benefit for all heart failure patients. This 50 year old white guy(he graduated med school 27 years ago), just proved he was a 50 year old white guy operating under the old set of evidence based instructions. He just said "I am willing to spend the taxpayers' money on a medication even if it doesn't benefit the patient, because I think it would be too confusing to test the patient for this polymoprhism during the first 10 days of therapy"

But I am certain he doesn't see it that way. He sees it as, "I see 20-30 heart failure patients a day. Why? Because my operating expense has gone up and my insurance payments have gone down. So I don't have the time to test these patients....so I just spend the insurers money on these meds. Why? Because they work!" And that my friends is how everyone ends up overmedicated!

I wonder if he ever considered that the money saved and risk averted could be a nice way to reimburse him for the new model of healthcare this nation is now demanding? Hmmm.....Might be one way to get the 50 year old white men on board with Genomic Medicine......"Pay for appropriate usage or non-usage of medications" Listen, don't get me wrong. Beta blockade in heart failure is cost effective. But imagine how much more bang you would get for your buck if you could squeeze that much more effectiveness out of it.

We really need to know how this can affect care. This could be a great clinical example. Berci at Scienceroll is compiling a database of clinical examples. I think that as we see these cases add up, we will then begin to realize the power of Genomic Medicine.

The Sherpa Says:

The only constant is change, and times, they are a changing. I am blown away that this researcher didn't investigate whether it might be worthwhile to test these patients rather than let them be guinea pigs simply in the name of evidence based medicine. Genomic Medicine is here. The passage of GINA heralds its arrival. Even Burrill and Company believes it, so it must be true! To all my colleagues out there....Be Prepared.

LRP8 and Familial MI....Ho Hum

This month in the American Journal of Human Genetics we have some interesting publications. Including an association study identifying a gene known as LRP8. So what is LRP8? It is a receptor for bad cholesterol. When bad cholesterol binds this receptor, platelets (the bricks in your blood that build a clot) become sticky making it easier to thrombose (form a clot).





I am interested in this study for several reasons. First, it has been shown that platelets get stick even after ingesting a Big Mac. That's correct. Just one fast food hamburger can theoretically precipitate a heart attack. So naturally we would love to know who. Think Personalized Diet/Nutrigenomics. I wonder if Salugen can hear me now? I still haven't received their "Scientific Data" yet. I will publicize it if they do.





Back to the study. So what was studied is a group called the GeneQuest families of familial MI, the control group was some white men who were given cardiac catheterization and found to have no atherosclerosis burden (OOPS). Well, that control does not mean they did not have atherosclerotic burden, because catheterization cannot identify 30% occluded vessel plaques.





In addition their findings were replicated on an Italian cohort of familial heart attack as well. So why do I say Ho Hum?





Let's see: No Odds Ratio was greater than 1.43 This 43% increase in heart attack and coronary artery disease is still less than the family history risk itself. The only good thing was that this risk persisted even when controlling for plasma total cholesterol levels, triglyceride levels, hypertension, and diabetes, in addition to age and sex.





What is your odds ratio for heart attack if your father had one prior to 65?


The Answer: 5.8 according to Maren Scheuner's article on familial risk for MI.





Do you now see why I say HO HUM about this gene? When will we see the gene card panel for MI??????

The Sherpa Says: Listen to all of this hulabaloo about Ventner's Genome. Even Men's Health magazine says you should bank your parents DNA if they die. What good is all of this if we don't have a key to the map? The map will make no sense! LRP8, APOE4, I could go on and on. What good is a genome map, without a guide? What good is the guide without the studies? Why did you buy the iPOD early, only to have late adopters get it cheaper? For the rebate? Doubtful. This is why primary care physicians are late adopters. If you want to get your genome (and I do) then you better be prepared to find someone who will help you understand it...becasue cliff notes, or Navigenics just won't do. Nor will scarfing down Big Macs....