Tuesday, April 15, 2008

Genetic Over-regulation? Simple Answer.

Why all the worry over regulations?

I was washing the dishes this morning when it finally hit me. With all of this concern coming from Washington D.C. and all the entrepreneurs (like myself) pushing something to market for "brand recognition" i.e. the Mayo or Coca Cola....face it....there is a Branding Element. Well, while we are now moving through MBA or MD 101 what hit was the answer....

You may be asking yourself "What is the question?" But I am here to tell you that the question doesn't matter as much as the answer does. But if you must know....the question is "What is disease?" We have all these people talking about the wellness industry, but we have to be serious with ourselves. There are a whole lot of well people walking around with LDL's that are over 160 (BTW that is pretty high). But if they never get tested for LDL, they never have a diagnosis.

So, I ask you. "What is disease?"

From Webster's

1: obsolete : trouble

2: a condition of the living animal or plant body or of one of its parts that impairs normal functioning and is typically manifested by distinguishing signs and symptoms : sickness, malady

3: a harmful development (as in a social institution)

So what really is disease....Well to break it down it is "Dis" (Lack,Not, Away) "Ease" (Ease). So this basically says that anything which confers a lack/dearth of ease could be disease.

I think this definition is DEAD! The concept was created PRIOR to molecular diagnoses.
I read just about everything that Ralph Snyderman writes. Who is Ralph Snyderman? Ask Misha.

Seriously, he came out with an idea which I think is absolutely brilliant. It is called Prospective Healthcare. Not personalized, not genomic.....ProSpective. Why? Because we will be able to diagnose disease at earlier and earlier stages. His graph is even lifted and put in the WebMD/Navigenics CME course....which BTW is five pages and five questions. Not exactly a whole course line. So if you are looking for a "curriculum" Navigenics. Give me a call and I can help you out.

I have lifted a subset of his graph and put it as the pic for today.
I know, I know but I need to bring this full circle so bear with me ok?

Dr Snyderman has stated that
Today, most health-care expenditure is focused on the later stages of this process, long after the development of many underlying pathological changes. Until recently, it could be argued that the focus on treating disease was justified because the ability to predict, track, and prevent its onset was not technically feasible. This is no longer the case, and the emerging sciences of genomics, proteomics, metabolomics, medical technologies and informatics are revolutionizing the capability to predict events and enable intervention before damage occurs. Personalized risk prediction and strategic health-care planning will facilitate a new form of care, which we have called 'prospective health care' [1].
You gotta love it!
So he says tomato I say "Tomatoe". Either way you slice it. It is what it is. But here's what it means. "Is preclinical disease, disease? Can you diagnose it? Can you treat it?" The answer in some instances is unequivocally YES. This is the case for impaired glucose tolerance.....prehypertension....So I ask you "Can you treat BRCA carriers?" YES. Is it a disease? It has an ICD9 code(V84.01). And it does determine certain insurance coverage, such as breast MRIs.
Do you see where I am getting? Everyone is up in arms over Over-Regulation(get it?). I think the answer is simple. If your test indicates a predisease condition that "May occur", then you my friend are diagnosing the "New Disease" named predisease. Therefore, you are practicing medicine. So the litmus test and answer is this. If your test does what I have just stated, it should be subjected to the same regulations as the practice of medicine. If it does not, then it should be stated PLAINLY, not at the bottom of a report in teeny weeny writing. I.E. this test has nothing to do with you "Health"........
There...back to the dishes...
The Sherpa Says:
So is it really over-regulation? Or is it just calling some corporate genomic tests "The Practice of Medicine". Which brings up an even more interesting point. Why would anyone want "health related genetic tests" if they Weren't diagnosing a Pre-Disease?


Misha said...

What better day to contemplate regulation than April 15?

Steve Murphy MD said...

You gotta love the irony......

Anonymous said...

People need to remember that the majority of people in this world are healthy. With over 6 billion people on Earth, only a small percentage are actually sick. I think a disease is not if you have high blood pressure, low blood pressure, high cholesterol, etc, but a disease is when the normal physiological process has been altered in a way that leads to a malfunction. I’m not smart so I could be totally wrong. Generally speaking, with a few exceptions, a mutation in a gene does not lead to a disease and nor does it mean you will get a disease. A disease COULD occur if the mutation in a gene occurs in a location where the “normal” function of the protein is altered to an alternated function that leads to an abnormal physiological process.

The type of studies that need to be done, which are not done to my knowledge, is how many health people carry mutations in genes that have been previously linked to the development of a disease. Just so everyone knows, I’m not talking about carrier rates.

Steve Murphy MD said...

I think that perhaps you have not spent alot of time seeing adult patients. There are ALOT of sick people out there that are according to "Society" functional...i.e. can work and be productive until all of the sudden WHAM!!! a heart attack. Does that mean they only GOT sick when they had the heart attack? No, they were sick all along. To be successful at prevention we need to let go of the mindset which you currently carry. Most people have ticking genetic time bombs, some get ill, some don't. I agree that a study such as the one you posit would be great, provided that we control for those genetic time bombs.