Wednesday, July 1, 2009

No Gene is an Island


This is a saying I have been using for about 4 years now.
When someone asked about testing for HFE and why we don't do it as the first screening step anymore.....


They often looked at me confused.....I then bring up the case of sickle cell disease.

Most doctors have seen a sickle cell patient in the hospital.......They may have even seen a family in the hospital, brother and sister, Son and Mother......but what most don't know is that the majority of sicklers never go into the hospital.....


That's when I ask, what is the mutation that the son and mother have? The answer Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position.


Now what about the patients who never come into the hospital?


Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position.

Why is that? I answer my question as they have lots of guesses....

"No Gene is an Island"

You see, there are several things linked to the development of the adverse outcomes with sickle cell disease. Environment, Modifier Genes, Epigenetics (which ultimately is environment) I could go on from there........but suffice to say, genes can only provide us a small answer into the majority of diseases......

Drug metabolism, is a very different story at times.....


I then go on to say that there are very, very few diseases for which severity of disease or even disease itself is attributable to JUST one gene........ Or frankly to JUST ONE MUTATION..........

The body is a set of systems and by being super reductionist and looking at one gene or one mutation versus another, we ultimately end up missing the boat and making a big deal out of something which is not so big a deal......

Or we apply something which may be clinically valid but have little clinical utility.......

Even worse, we take something which has wonderful analytic validity and to use it clinically, with a huge waste of money and a huge waste of resources........
This is the case with DTC.

Some may argue that we should allow people to waste their money on anything they want. I tend to agree with this.

However, what should not be tolerated is false claims and manipulation of claims without scrutiny.

In addition, something which meets the definitions of medicine, should be held to that standard......plain and simple........
Taking human tissues/samples and using them for research requires an IRB, taking human tissues and using them to predict risk of disease IS MEDICINE..........and should be regulated as such......

There are a whole host of laws which regulate how a doctor can advertise, why are we not applying them to these companies who are performing such analysis?


But more importantly, why are these companies the only people educating the public. And doing a very slanted and manipulative job here......

No Gene is an Island......thus no SNP is the end all or be all of risk.....It is much more complex than that.

Which is why I say "Family History is the cheapest and most clinically useful Whole Genome analysis"


The Sherpa Says: Someone is watching these claims, I hope you come here to debunk their junk.

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