Good Enough Science? Apparently so at 23andme

"A total of 61 individuals involved in five norovirus outbreaks in Denmark were genotyped at nucleotides 428 and 571 of the FUT2 gene, determining secretor status, i.e., the presence of ABH antigens in secretions and on mucosa. A strong correlation (P 0.003) was found between the secretor phenotype and symptomatic disease, extending previous knowledge and confirming that nonsense mutations in the FUT2 gene provide protection against symptomatic norovirus (GGII.4) infections."

This from a report at 23andSerge's "Norovirus Resistance" report.

I don't know what I would do with a Norovirus resistance report........Go on more cruises? Work in a daycare? Have more kids?

I bring this up because I begin to wonder what level of science is good science.

Is highlighting every article as useful as highlighting important and valid articles?

It seems to me that the best thing these companies can do is focus on good things and play a role in dispelling the not so good studies.

Heck, this is something I wanted to do on the Sherpa, but lack the resources....i.e the 13 million to burn on curators. So I select only the most relevant studies for PM and review.

I wonder if they (DTC Genomics) are just pulling up every study possible or if they are actively curating the data.

Because if they are curating, I wonder who is at the helm.

These are the studies they chose for the Norovirus report

Le Pendu et al. (2006) . “Mendelian resistance to human norovirus infections.” Semin Immunol 18(6):375-86.

Lindesmith et al. (2003) . “Human susceptibility and resistance to Norwalk virus infection.” Nat Med 9(5):548-53.

Hutson et al. (2005) . “Norwalk virus infection associates with secretor status genotyped from sera.” J Med Virol 77(1):116-20.

Kindberg et al. (2007) . “Host genetic resistance to symptomatic norovirus (GGII.4) infections in Denmark.” J Clin Microbiol 45(8):2720-2.

Thorven et al. (2005) . “A homozygous nonsense mutation (428G-->A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections.” J Virol 79(24):15351-5.

Just from reading the abstracts not a single study had any number greater than 63 symptomatic patients.

Not a single study in my mind had statistical significance required for an association or a linkage study.

What in the hell is going on with the science?

If an apomediary is to be given free reign (Which I argue they should not in medicine), they better prove they are

1. An expert
2. Knowledgeable about the statistics required for the information presented
3. Not given false information, in science, non statistically valid information
4. Not a harm to the people they provide information to.

I think this is an example of a Big Fail here.

Yet they put it out from the rooftops, yelling on twitter, facebook, their blog, ALL OVER.

What in the hell is this information to be used for?

Even if for fun, it doesn't help if scientifically it is suspect. Isn't this what we bashed DNA Dynasty for? If this company wants to do right by people, they shouldn't boost the unimportant to the level of importance......

The biggest problem about this and other examples is the fact that the studies are not being vetted properly and the rushing to make a big deal out of suspect studies. This is analogous to the press publishing some crap study on the news. Which BTW, I have managed to tune out, because most of what they report is wrong. If they were a news organization, I would not be as pissed here, but they are not clearly just a reporting service, despite what SB 482 said.

23andSerge tests human biologic samples and gives diagnoses. As well as promotes unimpressive studies in an attempt to sell more tests......GREAT BIG FAIL!

The Sherpa Says: If this is the example of expert information that patients/customers can use to empower themselves, I would say they (Both 23andSerge and Customers) could do better reading the National Enquirer for health tips...

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.