Smoke or $h!t gets in your eye!

A recent study was brought to my attention by a great reader. I highlight it here, not because it is going to change personalized medicine, but because it illustrates some key points.

The study is entitled: "Responses to Online GSTM1 Genetic Test Results among Smokers Related to Patients with Lung Cancer: A Pilot Study" Cancer Epidemiol Biomarkers Prev 2009;18(7). July 2009

This study interested me for several reasons, the first of these was that it involved a hotly debated environmental detoxification gene which has been tested for by numerous nutrigenetics companies for years now.

The second reason it interested me is because it dealt with a population who knows that there family can get cancer when exposed to smoking. I have always wondered for years why there are these families out there who have multiple members with lung cancer, yet everyone in the family seems to keep on puffing.

Are these families full of ignorant people who can't put 2 and 2 together despite years of public health campaigns? Are the genetically or environmentally predisposed to smoking? Does the family have some weird death wish set of genes?

I have always wondered why they do what they do. This study evaluates precisely these families....

It was published on GenomeWeb and on several blogs as well as several news outlets with titles like:
1. Online Genetic Testing Appears to have Benefits
2. Study Suggests Online Genetic Test May help Smokers Quit
3. Possible Benefit From Online Genetic Testing For Lung Cancer

What they did: They identified relatives of Patients with stage IIIB/IV lung cancer who were receiving care in the Thoracic Oncology Clinic at the H. Lee Moffitt Cancer Center and Research Institute were identified. So in essence, patient who have pretty bad cancer, their relatives....who likely know that it is a bad cancer.

They tested the relatives for GSTM1 genotypes. Which is pretty interesting to me, because as the study admits, the Odds Ratio for Lung cancer in this null population is 1.15 to 1.17. essentially as close to one as you can get......

Which means that this association is pretty freaking weak......

So in essence they are going to clinically LIE to the person tested and tell them they had a higher risk.

Oh and BTW, they only analyzed 44 people.....Hardly a useful sample size, especially when 96% were white.....and 22% were college educated, hardly the 23andMx population......

What they found.
1. Smokers with the at risk profile GSTM1 nulls, remembered at 6 months that they had a "higher" risk.
2. Smokers with the normal risk, forgot that more often.....roughly 50% remembered that they were at "lower" risk
3. Both parties "believed" the test results equally........
4. There were NO SIGNIFICANT DIFFERENCES in uptake of the smoking cessation services between those who received the GSTM1-present and GSTM1-missing test result.......
5. At the 6-month follow-up, the proportion of smokers in each group who reported medication use did not differ significantly.
6. Perceived risk for cancer was the SAME in both groups
7. There were no significant differences over time in confidence in ability to quit smoking between the GSTM1-present and GSTM1-missing relative smokers.


"This observational study was not sufficiently powered for nor was it a study aim to assess smoking cessation as an outcome."

Obviously as it only had 44 participants in it........ So I am freaking left asking myself "Where in the HELL is the benefit?"

There are a ton of limitations which prevent this article from even being a study. It is an observation of a very, very small cohort......I consider this as statistical NOISE.........

But, the authors try to save themselves by stating "However, these limitations need to be balanced against the strengths, which include this study being the first, to our knowledge, to offer genetic testing for a common gene variant online."

Are you serious? Strengths? Maybe Strength, but I think that there is other research currently going on involving online genetic testing.

Maybe not published, but there is ongoing......

Some important points that I take from this paper........
1. DTC Genomics has a huge PR machine that will trick papers into writing bull$hit headlines and false claims....I.E. you cannot trust a single thing published in the lay press about genetic studies EVER!!!!!

2. How does a study with 44 people get noteworthy accolades for proving that essentially a single gene variant, weak association, does nothing in terms of empowering patients.....IFF you accept that this study wasn't just noise......

3. The DTC companies offer THOUSANDS of these little polymorphisms......if the people with normal results can't remember that they are at "REDUCED" risk from ONE, how can we expect people to remember THOUSANDS.....BTW, this is essentially like telling a patient that if they eat a ONE cheeseburger from McDonalds on Tuesday July 16th that they are at risk of a heart attack in the next 5 years......Statistical Bull$hit with ZERO Veracity

4. People will cling to the tiny shred of suspect evidence of the 6 of 44 who quit smoking.......% had the GSTM1-Null genotype, which if you look at statistics is likely pure chance as 50% of the pop is NULL.......Hmm whats the odds of 5/6 being null....I can't believe they even mentioned this in their paper.....What a crock!!!!!

The Sherpa Says: Just because it is published in a journal doesn't make it Good Science. Hell, it doesn't always make it Science at all.......Shame on the press and the bloggers who hyped this piece of garbage.......

The Sherpa Silenced

I know that it has been a long time since my last post. During this time I have been interviewing geneticists, networking with some major league all stars in the fields of nutrigenomics, personalized medicine and pharmacogenomics. So I ask for all of your forgiveness.

First let me state that it has been a great little breather that has got me re-invigorated to keep up the work of a Gene Sherpa.

Second, let me tell you how great it is to live in an age where the work which giants in the fields of medicine and genetics can now be applied broadly to medicine. But, with that benefit comes the danger of charlatans and hucksters.

This is why we need more Gene Sherpas. I am now putting out a plea to all of those who wish to harness genetics for health and longevity, those who wish to have science behind their clinical decision making, those who have a keen business sense and the ethics to make you shudder when you see what is being sold, those who wish to learn more about the future of genetic and medicine.....please email me and we will collaborate and create wonderful things to protect our patients, friend and families from the onslaught of false claims, dummied up studies and infomercials which will soon spring up all over the place.

Lastly I would like to direct your attention to the Institute of Medicine's (IOM) Report called "Nutrigenomics and Beyond: Informing the Future-Workshop Summary" I have spent a significant amount of my time reviewing it and trying to glean what it spells out.

A little about the IOM. It was establish in 1970 to attract elite physicians and scientists to examine national policies regarding health of the public. It issues statements all the time including those on direct to consumer testing.

The report summarized states that the science is not quite there....In addition there is much hype but also much hope. Dr Fineberg, President of the IOM closes with this statement.

"IS it possible that over time we can identify what ultimately must be the common biological pathways through which all determinants of disease or health must ultimately exercise their effect?.......Is it not possible that nutrition science -bridging as it does, everything from human behaviour, cultural values, all the way through to nutrigenomics and metabolomics and so on--might not be the crossroads for such a grand unification theory for health and disease"

The Sherpa Says: Once again, Nutrigenomics is not ready for prime time, otherwise Dr Fineberg would have said "Nutrition science is the grand unification theory" Another scientist stated that "Nutrigenomics is a in a very fragile paradigm...there are very few success stories" So please, tread lightly when someone sells you a diet based on blood type, body shape, or genetics......

The SaluGen response

I wanted to highlight what goes on in my comments section daily. I know that these comments don't often show up on the blog and you frequently have to click them to investigate.

I recently posted on something I feel that is not ready for prime time medicine. This doesn't mean you can't spend a fortune on it to make you feel good. People can even buy and drink tons of alcohol to feel good. Not particularly useful for your health...But it can make you feel good.

From one of my respected readers,

Dear Steve -


This is just not a fair statement. I really enjoy your blog and have commented previously (see link - https://www.blogger.com/comment.g?blogID=6173393362223742012&postID=2267329423294071851).


But to suggest that Salugen is "snake oil company" and that SpaGen is some scheme is just untrue. I would be happy to provide you with greater detail on our Company and on one of our products, SpaGen.


So you know, Salugen is a personalized health and wellness company that leverages our thirty years of research in genetics published in over 350 scientific publications to deliver DNA-customized nutritional solutions based upon patent protected genetic tests.

Obviously a blog is not the best vehicle for disseminating comprehensive information, but let me share with you a few quick facts:

1) The SpaGen survey assessment which looks at health, diet, lifestyle, and Rx interactions/depletions related to nutrients has passed due diligence with the nation's largest PBM which is planning on using it for their own employee base.

2) The SpaGen DNA test is performed in a high-complexity, CLIA-certified laboratory which has been around for over 12 years. Hardly a fly-by-night snake oil company.

3) Our Chief Scientific Officer, Dr. Kenneth Blum, leads our research and development effort and studies to support what we do have been published in JAMA, Nature, Science, Lancet, etc. (hardly discredited rags)

4) Our nutritional supplements are manufactured in facilities that are either licensed by the FDA for pharmaceutical manufacturing or exceed those standards.

So, I would ask that before you rush to judgement about what we do, please take the time to be as thorough as you are in other areas of your blog. I would be happy to elucidate more on how we genotype and customize nutrients.

For example, based upon the MTHFR C677T mutation involved in the metabolism of folate, ultimately converting it into 5-methyl tetrahydrolate folate which is an enzyme that converts homocysteine into methionine, there is a published, randomized, double-blinded placebo-controlled study to demonstrate that by giving a tailored amount of folate (3x the recommended dietary intake) that you can reduce the risk for the nation's largest cause of death by 2.4 times. Not to shabby, eh?


Talk to you soon,
Brian Meshkin(from Salugen)




The Sherpa Said:
August 1, 2007 9:19 PM
Steve Murphy MD said...
Brian,

I ask that you forward me your researchers' abstracts and data on supplementation and disease prevention as well as their published data on genetic polymorphisms and their role in nutritional inadequacy. I would also love to see the journal citations of replication studies carried out by your team. I will happily review these and make an evidence based commentary after I receive these. I don't make rash statements unless I have done some due diligence. Nutrigenomics is in its infancy. We are not talking about the perfect being the enemy of the good. We still don't even know who the enemy is. As for the homcysteine, there was an article in the NEJM which actually showed increased risk with viatmin supplementation to lower homocysteine.

Take Care and Thank You

-Steve

p.s.

The jury is still out on Homocysteine lowering and reduction of cardiovascular risks. Even Nutritional Journals acknowledge that.

Another Quack Moment!

This was a recent Press Release from Luxor that I came across.


Salugen, Inc. (http://www.salugen.com/), a leading personalized health and wellness company (Read as A rip you off fly by night snake oil company), announced today that its personalized nutritional support program (Read as a Money shakedown for bogus science) for the world's leading spas and their guests -- SpaGen (http://www.spagen.com/) is now available at the Nurture Spa at Luxor (http://www.luxor.com/).





Where do these press releases come from? Let the buyer beware. Because this VIP deal stands for Very Immediate Profits!!!!


-Steve