Monday, June 23, 2008

Let's Just Say.....

I, Steven Murphy MD, am for Genomic Medicine, I am for patient empowerment, I am for the revolution known as patient centered genomic healthcare. I did not delight in the governmental actions, I did not enjoy watching the smack down. I was happy with the fact that my estimates were right. I was happy that the Sherpa "called this one". I was also happy that the public may now begin to start trusting these tests. But don't ever say I was happy about governmental regulations.......I am not for any added regs. It just doesn't make any sense to add what is already there. Unless you are talking about enhanced protection from discrimination.

I did some thinking over the weekend and even watched the Sunday Morning Shows including CBS. They put together a nice review of the changing face in West Texas. That face is the change from old oil to wind power. They even pointed me towards a movie. "Giant" with Liz Taylor and Rock Hudson. It is described as:

Ambitious Texas-style scale epic that traces the rising and falling fortunes of two generations of Texans. Miscegenation, moral dissipation, racism, the oppression of women....a variety of topics are brought forth during the film's 201-minute running time. The core of the film is actually the relationship between Bick Benedict and his wife Leslie. It is through them that we follow the film's themes of generation, conflict and social change.

The crux.....other than the racism and other garbage....... It is a film of a family feud between the Old Guard and the New Guard

The movie portrays how the oil industry transformed the Texas ranchers into the super rich of their generation. Maybe the genome era will do the same for the Technology Guys in the Valley?

So with that warning in my head....I decided to let this one play out.

Let's just say the market (Which BTW is barely 5% of affluents) can get unfettered access to their data/genome(not a genome yet) and "Non-Medical" interpretation. What do they do with it?

1. Hold it up like a trophy. See KNOME and the NYT.

2. Act on the unvalidated data or data that may not apply to their ethnicity. Like the 9p21.3 test for heart disease...if you are African, you can forget about that applying to you.

3. Feel better with the false hope that they are at low risk for breast cancer, despite having had it in the past (Seriously, we have a patient like this)

4. Feel that they beat "the Man" and that the government can't regulate their Genome

5. Not act on some unsubstantiated "risk lowering" variant....most of these are unreplicated studies...thereby increasing their risk.

There are many other options, I am certain....But these seem most likely in my estimate. Especially give the Dearth of the studies. Trust me, we spent a ton of time at the ICOB meeting in Philadelphia debating the clinical utility of some very important and validated SNPs, like FGFR2 (hours). Where even if you have the risk.........there is nothing you can do to reduce it. The same seems to be true for 9p21.3, it's risk is independent of LDL, CRP, BP, or other usual treatable risk factors......So what is an early adopter to do?

Let's say they then get the data, they then act or don't act.....What happens when there is some new data?

1. A DTC company says "It is not reasonable or possible to follow up with those they tested". This actually happened in San Francisco, I heard it with my own ears!

2. Another DTC company says..."We have a subscription service."

3. Another DTC company says "We're workin on it"

4. The physician says, "If I would have ordered it, it would be my legal responsibility to follow up on changes on the results with you"..........A very small few would continue with "But since you chose to do DTC, I can't help you"......Unlike those, we at Helix Health of Connecticut and most responsible physicians do help those DTC patients.

5. You Google it and try to interpret Affy 6.0, SNP, indel, use SNPedia, try to understand CNV, epigenetics...I could go on and on here......Only a select few would be able to do that. Assuming the data found is accurate. We all know that sometimes that is not the case...

Let's say you then manage to get your updates.....What do you do then?

Two scenarios

1. Actionable data

a. Go see a physician/healthcare practitioner

b. Go see a genetic counselor

c. Ignore the advice

d. Can't find a healthcare practitioner that can understand SNPs or genes for that matter.

2. Non-actionable data

a. Try to act on it, like the case of FGFR2, resulting in self pay for extra mammography, which actually may be harmful to you. In which case a physician may not order the testing you want. Which leaves you paying out of pocket for an unnecessary test. Which may be harmful.

b. Don't act on it and wait for more updates....which brings you back to the prior sections.

In the end....I will assume all roads lead to "To see a physician or Not" Which makes me believe that the sooner you involve a physician in the process the better. Why? Because they will be bound to follow up with you, bound to inform you about the limitations and risks of each test, bound to examine you, bound to manage your modifiable risks...etc. etc.

This is why the Burrill and Company poll didn't surprise me.....Why do this through someone who isn't bound by anything? Because you don't want to be regulated through a gate-keeper?? Or because the day when testing could be done through spit rather than a blood draw you saw it as an opportunity to free yourselves from the bondage of healthcare?

Before taking these tests, one should ask...."Who will follow up with me?" If the answer is "Me" The next question must be "Do I feel knowledgeable enough to interpret the studies and do that?" If your answer is "Yes" probably have already had your SNP scan.....and you shouldn't complain about the enforcement of CURRENT state and federal laws.

The Sherpa Says:

I just think this makes common sense. Maybe I am wrong and hindering progress? I doubt it. I am actually preparing to make Genomic Medicine available nationally, so the arguments are foolish. It looks like the public it is just a matter of watching the government do what it intends to.

1 comment:

concerned heart said...

To prevent epigenetic (imprinting) problems and de novo genetic problems such as Alzheimer's, autism, schizophrenia, breast cancer, prostate cancer, MS, type 1 diabetes, father all your children before your 34th birthday.