Tuesday, November 4, 2008

Daniel Ballon Off Course with DTC testing!


I read an interesting article in the SF Chronicle today. It was entitled State off course on 'personal genomics' Authored by Dr. Daniel Ballon PhD...

He raises some interesting points that I would like to highlight.

Why would a state that regards itself as progressive and high-tech act to censor what we can know about ourselves? Though regulators may shut down unscrupulous firms, the services offered by Navigenics and 23andMe meet the highest standards of accuracy, validity and reliability. The laboratories employed by both companies are fully licensed and trusted by researchers around the world.


First off....it didn't start that way with 23andMe.....Also, I just found out they came to Yale Genetics in '06 looking to database people and their samples.......hmmmmm
California is progressive, but it is still a state which believes that government should help protect its citizenry, and this is likely why it acted. There were some really bad players out there....now that the well funded firms could hire legal defense to open back up, they have....those less funded buggers shut down.....who was more scrupulous.....I couldn't tell....but who was more funded I certainly could tell.......

I Highlight "the services offered by Navigenics and 23andMe meet the highest standards of accuracy, validity and reliability."
Simply because we need to ask what these three words are that Ballon PhD throws around as if they are the gold standards.....


Accuracy? Of what? Of what your genetic code is? If that is all they are providing, then maybe this is the most important thing...but if they start providing risk estimates....then that accuracy, I am afraid is terribly flawed and often not agreed upon by physicians or a host of scientists...So if we are judging that accuracy.....we have a big goose egg there....

Validity? Of what? A valid genotype? What is an invalid genotype (Well, that's what the natural born were called in Gattaca) Are the genotype results valid? I would say yes....the same as they are accurate.....in the genotyping realm this IS the same thing. But I think Ballon PhD is trying to get you to believe that the interpretation IS what's valid......For the majority of medical estimates (Which BTW IS medicine, I don't care what anyone says about that) their estimates are not valid.....validity used as an adjective describing assertions, arguments, conclusions, reasons, or intellectual processes that are persuasive because they are well founded. In this case that validity would be scientific or medical......most of these SNPs fail on both counts....therefore Dr Ballon.......DTC just laid another big fat goose egg.....strike 2!


A great example includes the fact that there are more failure of replications in SNP data, than replications......

Reliability? of what? The genotype? Isn't that the exact same thing here when we are dealing with As, Cs, Gs, and Ts? Are the letters what they say they are and can you trust that you will get the same letters every time? I hope so......But if you are talking about the reliability with which you can trust the interpretation reports.....once again I say you fail......why? The science isn't there to create a reliable report on most of these SNPs......So again.....Strike 3....

Don't believe me......look at the last month and the SNPs in 9p21 a region argued that is highly linked to heart attack.

1. linked to Irish heart disease


2. Failed to replicate in the Dutch


3. Replication in the Chinese


4. Now linked to Alzheimer's Disease if you believe it........


So which is correct? More importantly.....will testing this help us risk stratify any better? Will it help us treat any better? Will it help prevent disease? None of these questions have been answered scientifically yet.....Not a single one! No where is this mentioned in regards to validity, accuracy or reliability....yet these reports include risk assessments...based on these SNPs!!!!


He then makes this absolutely bogus argument....

If residents must obtain permission to see their own bodies, however, why can they look in the mirror without approval from a licensed cosmetologist?

Well, if I needed to put my eyes in a tube, ship them off to a lab, and the lab would need to tell me what I saw......I would say yes, that lab should be licensed.....

But, listen Mr. Biased, your statement tells me that your "Insight" is clearly skewed and biased
Unlike cosmetologists, doctors have a powerful lobby in Sacramento, and these technologies directly threaten their profits. Personal genomics aims to empower the individual, not line the pockets of an elite medical establishment.

So let me get this straight...

1. The doctors have more of a lobby than the billions of dollars in tech and in Google.

2. DTC testing doesn't line any one's pockets? Oh wait.....it lines the pockets of....oh wait, these companies are still bleeding cash......And BTW what doctor should you skip seeing because you have one of those new fangled scans....skipping doctors appointments is a bad thing.....that is one of the reasons why California stepped in.....b/c most patients are willing to trust an unvalidated SNP scan when it tells them they are healthy.....

3. These technologies threaten doctors profits?????? Have you ever seen a billing code for bogus SNP scan...insurance would never pay us to interpret this data......So no dipping into our paying patient populace......Sorry, another false argument....

Lastly, here's a myth buster for ya Mr Ballon....

You say

For example, it is currently impossible to know the hundreds or thousands of tiny genetic variations that help explain why someone loves roller coasters or horror movies. If 10,000 people join an online network for thrill seekers and start comparing their genetic profiles, the variations they share will be obvious.


10,000 patients wouldn't even come close to enough data to draw any meaningful conclusions regarding this highly variable phenotype of thrills.....SORRY......So stop making the public think it will.

So I ask all reporters.....if you are going to put this swill out there and hope it stands up as an argument......I say, think again.....

Daniel R. Ballon is a fellow in technology studies at the Pacific Research Institute in San Francisco. Contact us at insight@sfchronicle.com.


The Sherpa Says: Dr. Ballon needs to go to medical school or maybe just spend some time with the clinicians and scientists actually working on personalized medicine.....rather than hang with his Spit Happy crowd in the Silly Con Valley. Mr. Ballon, you stick to Cell Bio and I'll stick to Healthcare.......sound reasonable???? Sometimes business regulation is necessary, I think we see that crystal clear now.



1 comment:

Anonymous said...

good posting