6.8 IQ points! Give me a break!

When reviewing the web today it has become clear that the media is again hyping things today.
A study designed to evaluate the effects of ONE GENE on the role of IQ development in breastfed vs non babies. At first read does this sound like it could be true? I mean does the entire neurodevelopment of IQ hinge on this one gene.

Hsien Lei covers the story over at EyeOnDNA and so does Reuters.

Why is this story fishy at best?

1. According to the authors "We took cells from the children and then analyzed DNA and then we compared how they scored on IQ tests and looked up if they were breast-fed as babies," "It was very straightforward." Retrospective analysis is genetics is never the gold standard! Prospective is.

2. The authors even state (IN THE ARTICLE) that the modification of IQ is not likely to be due solely on this one SNP!

3. This is the FIRST study and replication is essential. But where do you read that at Reuters?

The Sherpa Says: That being said, this could be a pathway. I bring to your attention the age old debate about coffee being good/bad for your heart. When looking at environmental effects through a genomic eye the answer was found. Coffee is good if and only if you process it fast enough. So maybe we should be checking out FADS2 and CYP 1A2.... Let's not jump the gun just yet. Maybe the gene is just a marker and has nothing to do with breastfeeding at all. Just like this previously linked story....

NYT and WSJ cover Myriad's campaign

I have been silent on this for too long. Why? I was awaiting the review by my attorneys. The last thing I need is another threat of litigation. Why litigate? Because, critics like myself and the esteemed Ellen Matloff from Yale :) have been telling physicians that testing for BRCA ain't like checking a sodium.....or even better a pregnancy test.

Why can you get a pregnancy test over the counter? Because its results are crystal clear. The FDA has requirements for OTC testing. This whole issue was raised with at home HIV testing. The issues were portrayed here.

The interesting questions poses include these.

What test characteristics favor possible approval of an OTC home-use HIV test?

• The test is simple to use compared to other types of HIV tests and earlier versions of rapid HIV tests, suggesting that untrained persons will be able to perform the test properly.
• The test does not require special storage conditions.

The most interesting one was......

• Informational materials supplied with the test are sufficient to provide adequate information to potential users on performing the test and to substitute for live counseling.

Now my question is....has it even been proven that written materials substitute for adequate face to face counseling? Never for BRCA testing. So why does it take evidenced based medicine to prove a drugs efficacy? Well, partially because the FDA's evaluation is not about efficacy. It is about danger to the patient. Is there danger in not getting cancer screening if your BRCA test is negative? (Which BTW is not an appropriate counseling answer to the patient)

Yes, I do agree with Hsien. Direct to consumer advertising is a great way to introduce new products. Like the iPOD.

"Advertising serves to bring new products to our attention and to stimulate interest as well as the desire for more information. In the case of genetics and genetic testing, I would venture to say that all of us need to learn more, not less."

But the best way to learn about breast cancer risk is by being able to ask question to a knowledgeable, trained, health professional. How do we learn more about genetics? Take a freaking class, don't try to do self counseling for G-d Sake. Has anyone seen the Edward Jones commercial where the surgeon is telling a guy sitting at his kitchen table how to do surgery? Over the phone the surgeon asks "Did you sterilize the field?.....Good now with your kitchen knife make a 3 inch incision.........."

This is the type of thing that DTC testing is trying to get you to do. Patient empowerment aside, I don't let my patients prescribe their own meds. I even guide them on vitamins that they take. Did anyone see the expose on the Vitamin Shoppe's vitamins containing abnormally high amounts of lead. It was on Good Morning America a couple month's ago.

Well as the post was entitled the NYT and the WSJ had article on this yesterday. The ad campaign is telling you to go see you internist, OB/Gyn, or family practitioner. Guess what none of them have had training regarding this topic. There are less than 100 internist/geneticists in the country and even fewer OB's and FP's. According to the WSJ

Myriad says it is developing a program to school primary-care doctors about the test. Dr. Critchfield said the company is focusing on primary-care doctors, oncology specialists and tertiary-care centers, along with genetic counselors, "to get the message out."

What struck me was the benevolence of Dr Critchfield, who in the NYT article

Dr. Critchfield said Myriad waited nearly five years to start the new campaign to give more time for health care providers to learn to handle genetic testing. “We are in a far different place today than we were then,” he said.

The Sherpa Says: Well Dr Critchfield, you are incorrect. Clearly he has no clue or doesn't want to sour the internists' palate. OB's regularly fail to recognize at risk and not at risk groups, so do internists. As for the newest batch? I just tested primary care residents at a major academic center and only 30% recognized that a BRCA test was NOT indicated. Maybe that's what Myriad is looking for? If you want the literature I have quoted, send me an email and I will be more than happy to forward it on. As for the 8 month wait, Helix Health of Connecticut is open for business and seeing patients in less than a month!!!

1000 Genomes???? Coming Soon.

I have been looking at the genome of Craig Ventner. What Surprises me is that we haven't do this sooner. If you haven't heard the diploid genotype of Craig Ventner is up. And several of my buddy bloggers have posted on it. Blaine posted on it here and has a nice wrap up.

From The Canadian site The Globe and Mail

Most experts predict that routinely reading individual genomes will become a reality within five years as the technology to unravel the six billion chemical units that make up DNA gets faster and cheaper.

Kathy Siminovitch, director of genomic medicine at Toronto's Mount Sinai Hospital and the Samuel Lunenfeld Research Institute, noted that the first Human Genome Project rang in at roughly $1-billion (U.S). But with the new generation of "ultra-fast" DNA sequencing machines that have hit the market within the past two years, she said the bill is expected to drop to less than $100,000 by year's end.

The Sherpa Says: Coming soon 1000 USD genomes. Now who will read and interpret them? Even crazier....where is the evidence base behind treatment guidelines adjusted to your genome??? I can here the uneducated physicians now.But don't be scared my brethren internists. Stick with the Sherpa. We will find our way.

Send in the Clowns......

The Gene Genie is at Microbiology Bytes this week. The theme is bugs and beyond. It has been 7 genies since my hosting and the topics just keep getting better. I am so impressed by the set of links posted, from evolutionary bacteriology to pharmacogenomics there is a lot in the bottle this go 'round.

I have been moving off topic lately and I promise to start redirecting. I have been guiding your attention towards the business side simply because there are so many shenanigans out there. I firmly believe that the revolution known as personalized medicine will be manipulated, just as the "organic food" wave was. Pretty soon you have everything from organic food to organic car washes.

Perhaps the next move is Procter and Gamble releasing Genomically Targeted Food, personalized just for you. Where will this start? Not in your foods, but in Fido's. I have recently discovered from several sources, including I guy (venutre capitalist) who I bumped into waiting to buy power ball tickets, that there are several food manufacturers working on nutrigenomic cat, dog, and parakeet food!!!

All that glitters isn't gold and all that buy it aren't fools. They can be tremendously smart people that are duped by marketing. I ask that we all take a step back, take inventory and prepare for the avalanche of marketing about to hit the air waves.....From Myriad and Sheryl Crow to Puppy Chow...please don't dismiss Personalized Medicine as more of the same charlatanism. We have something revolutionary, it is a shame if we let the PR, Marketing, and VC fools run us into the ground for a cheap buck or two!

The Sherpa Says: Thanks for reading.....please stick to the trail and we will get there safe and sound, I promise. Oh and BTW, I am still awaiting Salugen's studies and data.

Nice Commercial, Bogus Advertisement.

Has anyone seen a company named Navigenics....Unless I have been sleeping and missed my daily rss feeds searching pubmed for pharmacogenomics, personalized medicine, genomics, and GWAS I feel they are lying.......

They have partnered with Affymetrix and plan to NAVigate GENomICS.

The way the Navigenics process works is that you submit a saliva sample and.......

They present your future!!!

Please take a look at the commercial!

What blew me away was this quote......after a misleading commercial where you think that a simple report, delivered in your email, describing your genome will alter your life......

"Now is the time when people should be getting this information(their genome). The Science is there, The Information is there....and Now Navigenics is there"

Even more disturbing is the fact that this was a quote by Greg Simon JD.....Their Chair for the Policy and ETHICS Task Force. Mr Simon is the president of FasterCures an "actiontank" committed to "saving lives by saving times" Mr Simon was the Chief Domestic Policy Advisor to Al Gore from 1993-1997

I don't think saying "The Science is Here" is an ethical statement. In fact it is misleading. He could mean the science to obtain a genome is here.....which is true......He could mean that the science to hold your genome and store it is here....true again.....but the commercial gives you the feel that the SCIENCE IS HERE TO APPLY THE WHOLE GENOME TO YOUR HEALTH. Especially when the tag line is "My genes....My health....My life....My Guide" Perhaps it depends on what your definition of is is......

The Sherpa Says:

Unless I have been asleep at the wheel, the science to send a report via mail and deliver meaningful contribution to you health care ethically and with some validity is not here. Perhaps Mr Simon missed the Bio 200 class where they talked about evidence based medicine???? Oh wait....there wasn't a lecture on that.....

Good Morning America Versus the MDs

Today on Good Morning America Dr. Tim Johnson spoke about the future of Personalized Medicine. He feels that it is here and now. Take a listen to what he says.

Wall Street and the FDA Versus MDs???

If you didn't have the chance to read the Wall Street Journal today, then you missed a whopper of an article regarding Pharmacogenomic testing and how it can truly impact outcomes with medications.

The article presented several stories of Warfarin gone Awry. Trust me, I have seen more than my fair share of warfarin bleeding stories. Warfarin was a drug initially used as a rat poison. In fact it was only discovered as an anticoagulant when some depressed soldier tried to kill himself with the poison.

He survived, and so did one of the leading selling medications in the world. Leaving a trail of horror stories. When dosing this medication, there is an old adage that you start low and go slow. But in today's lack of reimbursement, this medication is getting started at higher and higher dosages. Why? Because the hospital only gets paid a certain amount by insurance for your stay. This is based on the diagnosis you give. Therefore, the quicker you leave the hospital, the more money the hospital gets to keep.

Enough about health economics, let's get back to coumadin. If you had read my previous posts regarding this testing, you know that it is safe, reliable, and pretty rapid. In addition, Harvard will soon release data showing the clinical efficacy of dosing according to genotype. This is Personalized Medicine at it's finest.

The Sherpa Says: This warning shot by the FDA is directed at physicians who have been inept at learning and applying genetics. At Helix Health of Connecticut we do just that, and help other physicians to do the same. If MDs don't smarten up, we will have Roche teaching laypeople how to dose adjust their medications. Not exactly my idea of health professionals........ Imagine that topsy turvy world!!!

This week in NEJM

So I have been reading about how the new article in the New England Journal of Medicine shows that BRCA gene mutations are not worse than sporadic breast cancers due to non-BRCA mutations.

If you look at the article you will see that there are many reasons why this is flawed thinking. But more importnatly it flies in the face of another study which actually showed and increased risk in worse outcomes with BRCA1 mutations.

So on closer inspection what was the NEJM article about?

They took all breast cancer specimens available in Israel's National Healthcare repository and looked for 3 I repeat 3 FOUNDER MUTATIONS....... This immediately makes the study invalid to comparison on women who have non ashkenazi mutations, especially if they are not founder mutations.

Secondly they analyzed outcomes retrospectively. This is a notorious way to get confounding results as well.

Thirdly this study did not have interpretable data regarding estrogen or progesterone receptor status.......This is a big deal!!!

And Lastly,
"We had 16-year follow-up data on mortality and incident cancers, but information on the cause of death was available from the Central Bureau of Statistics only for deaths that occurred before 2000." None from after 2000........

The Gene Sherpa Says: Before bloggers and press go off half cocked in this interpretation we need to be careful in how we evaluate this study. This ONLY means if you are an ashkenazi jew from Israeli heritage and have one of 3 founder mutations, then you are not more likely to have adverse outcomes than ANYONE else who is Israeli and Ashkenazi with non founder mutation breast cancer....That's IT. Nothing else can be extrapolated here. To those who are.....tread carefully...Because you are misleading the public!

Multiple Sclerosis Risk Passed Equally By Parents

Recently a phenomenon known as the Carter effect has been put in to doubt. At least for the horrible disease Multiple Sclerosis (MS).

A study published in the journal Neurology last week indicated that the transmission of MS risk is not skewed based on sex.

"Genetic and environmental factors have important roles in multiple sclerosis (MS) susceptibility. The precise nature of these factors and mode of inheritance remains unknown. A female predominance is universally found. Recently, offspring of affected fathers were reported to be more likely to have MS than those of affected mothers. This was attributed to the Carter effect, which is seen in polygenic disorders. The Carter effect predicts that affected parents of the sex lesser affected by a disease/trait are more genetically loaded for risk alleles and thus transmit these more often to their offspring."

The study found that both men AND women afflicted with MS transmitted the disease about 10% of the time to their offspring.

The Sherpa Says: This is a study which calls into question old notions of thinking regarding genetic predisposition. Unless this is a sex linked disease, we should not see skewing. This old thinking was much along the lines of "Only women pass on breast cancer". I am glad to see it go. However the critics of this study will note that 3 times as many afflicted mothers were studied. Also no genome wide association studies have identified any genes in this likely multifactorial disease. Patience......they will come.

Forbes and Genetics

Way back in 2004 Forbes published an excellent article on inflammation and heart disease. That article introduced me to deCODE. In fact, I was so impressed with their model I began to read about their founder voraciously. More importantly I began to see the wonderful role the media has to play in this new revolution. They can influence the demand just as much as Myriad spending 1 million in Denver to market to consumers. Granted these publications don't have the Oprah Effect (Did I mention that Dr Oz is going to meet the Sherpa?), but they do have some teeth!

But I was also distressed when Forbes published an article that I had a tough time swallowing. In fact it brought me to tears. How can this publication blindly validate and promote these tests without any medical guidance, or suspect guidance at best. I am certain you have all read this article, but you can read it here. The wonderfully hyped name 12 Gene Tests That Could Change Your Life says it all. But before I get into the article, which is misleading and not factual enough to guide decision making, I will investigate the authors via my favorite little spy...uh I mean Search Engine Google ;)

Robert Langreth. He has written many articles some good, some bad. He has been writing about deCODE since 2003 prior to the Big Forbes cover story in 2004. He has been writing about personalized medicine since 1999 as Staff Reporter of THE WALL STREET JOURNAL. He also has written many scathing reports about drug companies, which is why I find it ironic that he endorses deCODE's diabetes test. Which does not tell you as much about your risk as if you had a first degree relative with diabetes. Mr. Langreth was a Staff Reporter at the Wall Street Journal from 1995 to 2000 and an Associate Editor at Popular Science from 1992 to 1994. It was at this time in my search when I figured it out

From a chat in 2002
mherper: What's Kari Stefannson like in person?
LANGRETH: Kari is a charming and very emotional person. He literally had to sell his radical database to an entire country. He did it by a grass-roots campaign, going and speaking to anyone who would listen. He eventually by weight of personal charm won the day over his opponents.
mherper: How can you write about DeCode Genetics when their stock is at $2?
LANGRETH: I wasn't recommending them necessarily as an investment, although I'd argue that it is not a terrible deal right now. I chose them because Kari is doing something that will very likely change the course of science and lead to fundamental discoveries. Whether it leads to a successful business is another question entirely. But since you ask, I figure that unlike many tiny biotechs, DeCode has something unique--the genetic access to an entire country. It doesn't mean they won't go out of business someday. But in the meantime, they are almost certain to have a big impact on science.

Does he have stock in DeCODE??????? It did track up on the day of publication.

We have to be careful to fully investigate our sources. Whom do you trust when giving you information about genetic testing? The company spokesman? The company that sells the tests? What about the middle man? We are entering nebulous waters where the lines of relation can still be hidden. Even from google. When you publish for a peer reviewed journal you have conflict of interest disclosures required. How come we don't have the same for a well read and respected magazine/website?

The Sherpa Says:
Mr Langreth has done some crack reporting on several topics, but to include the DeCODE TCF7L2 test as one that will change your life is a HUGE LIE!!! This test is a party trick at best, a distraction that could lead you to not getting your fasting blood sugar tested (The standard of care for early diagnosis). At best he just boosted deCODE stock. At worst he led you down the wrong trail. Be careful, some who play sherpas actually have stock in the pack the tell you to carry.

Great Blog, Great Man

On occasion I like to make note of some person, event or thing that contributes to the future of health care and ultimately personalized medicine. One of these people is Bertalan Meskó.

He is a medical student at the University of Debrecen, Hungary (4th year of the 6). He has set up an amazing blog at Scienceroll whose aim is to make medicine, genetics more readable even for those who are not too interested in these.

If he were just to do that it would be a great thing. However, the soon to be Dr M is planning to help deliver the tools of Web 2.0 directly to physicians as he has to myself. He describes this synergy as Medicine 2.0. I currently am pointing all of my medical students and residents directly to his blog. I highly recommend it.

He has been interviewed several times and presents some great material.

I for one am extremely thankful to have a person willing to translate the technology of today allowing all of us to create the medicine of tomorrow.

Thanks Berci, I look forward to your exciting news.

Too Far

So I have been reading another blog linked in my brand new DNA Network a Feedburner network set up by Rick at My Biotech Life. I was invited by the group and I am very excited about participating in the discussion. To have such a network encourages debate and solutions. I love the ability to communicate with other persons about the future of health care. That being said, I think this blog may have gone too far. They are talking about Direct to Consumer Testing

• "Not surprisingly, the genomic revolution has a lot of medical professionals who aren't geneticists* concerned about who's doing what, and how."

Not only Non-geneticists, but GIANTS in the field of genetics (Francis Collins, Margretta Seashore, Kurt Hirschhorn, Ed McCabe, Victor McKusick to name a few) have some serious concerns about how things are going. Including Gene Patents, Enzyme Replacement costs, and yes Direct-To-Consumer Testing. This blog goes on to say.....

• "It shouldn't be a territorial issue, but when money is involved, it inevitably raises this issue."

I would venture to say that these physicians and scientists are less concerned about money than they are the stewardship of their respective fields. Shame on this author for insinuating that they think like her. I know these people and money is the least of their worries. Lastly she finishes with

• What's the difference between a direct-to-consumer company that provides medical services and a for-profit physician group that provides medical services?

The answers are many let me start with the obvious ones first.

1. Medical practices do not get paid for the tests they order for patients. It is ILLEGAL by Stark II laws. Nor do they get paid for the interpretation of these tests.
2. The DTC company does not examine you, they may not even do a family history.
3. The physician group has a referral network to send you to when something is diagnosed.
4. The ideal group will continue to follow you even after the testing.

I could go on but I think you get the picture. Shame on this blog (which is part of my network) for foolishly trying to think they are even in the same category as a group of physicians who have ethical and legal obligations that DTC companies are not even close to being subjected to. Perhaps the physicians who are under their employ are subjected to these regulations, but do they even carry out medical care?

Must we have this argument? Collaboration is what is needed not the "framing of MDs as money hungry" I would say that perhaps there is some self-projection going on with this DTC company.

What do you think?

Pancreatic Cancer miRNA This week in JAMA

Earlier this month an article in JAMA studied the expression pattern of miRNAs (microRNA) in pancreatic cancer. What they found was pretty important.
From Medical News Today May 5th 2005

"Pancreatic cancer is a lethal disease, with the annual deaths nearly equaling the incidence of 33,000 in the United States, according to background information in the article. In humans, aberrant expression of miRNAs contributes to carcinogenesis by promoting the expression of proto-oncogenes (a normal gene that has the potential to become an oncogene) (a gene that can cause a cell to become malignant) or by inhibiting the expression of tumor suppressor genes"

From JAMA 2007 May 2;297(17):1901-8

CONCLUSIONS: Pancreatic cancer may have a distinct miRNA expression pattern that may differentiate it from normal pancreas and chronic pancreatitis. miRNA expression patterns may be able to distinguish between long- and short-term survivors, but these findings need to be validated in other study populations.

Expression of miR-196a-2 was found to predict poor survival (median, 14.3 months [95% confidence interval, 12.4-16.2] vs 26.5 months [95% confidence interval, 23.4-29.6]; P = .009).

What does this mean? It means we may very well be on the way to the predictive part of personalized medicine in pancreatic cancer. Obviously replication needs to be accomplished.

But the results were pretty convincing as far as statistic goes. By predicting survival time we can help the patients and their families with this horrible and most often fatal cancer. More importantly perhaps this signature pattern may allow us to develop molecular therapies to target the tumors associated with the worst outcomes.

The Gene Sherpa says: If you have family members with early breast cancer (younger than 50) you may be at risk for pancreatic cancer. You should speak with your doctor about having genetic counseling.

Personalized Medicine in Hepatitis

From Stanford today a study results released showing the effectiveness of a genetic test indicating which patients infected with the Hepatitis C virus will progress to cirrhosis (destroyed shrunken liver). Until this study gastroenterologists had to guess which patients would develop this condition. None of the clinical factors including alcohol use or age at infection could accurately predict cirrhosis. This signature panel of 7 single nucleotide polymorphisms predicted risk better than clinical factors. Does that mean this test co developed by Celera Genomics is useful for all? Well....

1. We need validation studies
2. This was just evaluated on Caucasians
3. We are getting closer
4. Now if we could just get one of these for hepatocellular cancer

Hsien-Hsien Lei

Just a brief post today to tell you that there is an excellent blog being started by Hsien Lei PhD. She has been at the helm of a highly successful genetics blog called Genetics and Health. She is now posting on her new blog Eye on DNA
I am looking forward to this new start. We all wish her the best.
On a not so light note, I have been embroiled in a hot debate with Lisa Lee from a direct to consumer company. She has been extolling the benefits of predisposition testing for TCF7L2. When I posted this she had no response:
From Genetics and Health

"Last one I promise.The TCF7L2 is involved in signalling and may very well represent what we
call a developmental predisposition. The family of proteins it plays a role in is Wnt signalling. This is involved in the development of the gut. It is fishy to raise the possibility without mentioning that the damage could have already been done in utero. Similar predisposition may be involved with COPD (emphysema).

From NEJM Volume 355:306-308 July 20, 2006 Number 3“Does this new genetic information have any practical health implications? At first glance, TCF7L2 is not the most attractive of drug targets, since it is closely involved in fundamental developmental processes. The main effect of the high-risk single-nucleotide polymorphisms in relation to diabetes may be developmental and may not be amenable to therapeutic manipulation in the adult patient.”

Do you see how confusing the data is? I sure do.The jury’s still out.
At least in my mind.
-Steve

More Than DeCODE found!!

In one of the most comprehensive evaluations of diabetes risk genes "researchers from the University of Michigan, the National Human Genome Research Institute, the University of Southern California, the University of North Carolina, and Finland's National Health Institute, have identified at least four new genetic variants associated with increased risk of diabetes and confirmed existence of another six.

The findings will be posted today in the online edition of the journal Science" This news was in Medical News Today. The findings include several genes which were not found by the DeCODE company. The Science papers confirmed six other genetic regions that others had previously identified as having a connection to type 2 diabetes.
Kári Stefánsson, the chief executive officer of deCODE, notes that a smaller sample size may help explain why his team didn't report two of the three new variants found by the three groups that pooled their data.
The story is not over for diabetes. I will maintain that any genetic testing being offered to the public right now is premature. We have replication studies. But what is really needed is analysis of a risk panel.

Dave Altshuler quoted in Science Now and the Gene Sherpa agree :"The findings are just the beginning of what GWA studies will accomplish, notes David Altshuler, the director of the program in medical and population genetics at the Broad Institute in Cambridge, Massachusetts, who helped lead one of the teams reporting results today. The next step is to sequence these regions and confirm the relevant genes. Figuring out how they work "is going to take great creativity and insight," says Altshuler, as will determining how and when to apply the results to patients." So would I run out to take the Direct to Consumer TCF7L2 test?...NO. It likely will just confuse the situation.

Heart Risk Genes in Question

In the April 11th issue of JAMA Tom Morgan and Rick Lifton report a large "Replication" Study intended to identify at risk polymorphisms. I remember Tom running all over Yale collecting samples while I was a medical student rotating through genetics there. Personally I am surprised that the press did not jump all over this study. They evaluated 85 previously studied markers and found absolutely none were linked to increased risk of heart attack.
However family history of MI was higher in cases than controls, the racial subtype was Caucasian, the study identified each gene polymorphism individually. What this alerts me to is the shortcoming of candidate gene analysis (looking for genes based on mechanism of disease process). More importantly it puts an ALERT out that testing for MI predisposition is not ready for prime time quite yet, at least in a pan screening form. Perhaps nuanced testing in specific groups like ALOX5AP in Icelandic and Scottish patients will be the best way to stratify care.
The Gene Sherpa says- Hold on to testing for MI for now. Subgroup analysis will need to be done....again. Soon we will have whole genome analysis of risk genes and that will help solve this mystery. I hope Tom is doing well at Wash U St Louis. If anyone sees him tell him Steve Murphy says hi.

More on colon cancer.

While preparing to give a lecture on colon cancer for my curriculum study I came across another piece of evidence that should give most patients pause. I hope my readers take this to heart and begin assembling their own family histories. This week in the Journal of General Internal Medicine there is an article surveying patients about their experiences and screening offered for colon cancer prevention. The first survey identified patients with a family history of colon cancer and the second survey evaluated the care they received by their internist. The care was given at a Harvard affiliate! Here's what they found:

1. Only 39% of patients under 50 were asked about family history
2. Only 45% of patients with a significant family history had been screened appropriately
3. Only 46% of patients knew that family history of colon cancer can indicate a need for earlier cancer screening!

These averages might be good in baseball, but we are talking about human life here!

I am sure that with the database options in these new electronic medical records we will see more of our shortcomings. Especially when it comes to genetic care. That is if tracking family history is an option for an EMR. Most programs have woefully inadequate genetic options.

Here's what I will tell these young doctors: You better ask for family history, because the patient will not tell you they are at risk!

Here's what I will tell you: Please take your family's history and give it to the doctor, because they likely won't ask! More importantly, educate yourself about screening at the United States Preventative Services Task Force(USPSTF)

Beware doctors bearing genetic tests!!!!

Today I am back on the soap box.
But I will also give a little worthwhile and scary data as well.
Yesterday I was at a cocktail party for the physicians in my upscale new england/new york town. I was speaking with an "educated" gastroenterologist. In fact this physician has been in practice for 29 years, went to medical school at Cornell, and is now part of a large practice in suburban NY. He told me that some "lab reps" from Myriad were now going to offices of Gastroenterology, Hematology/Oncology, and Primary Care physicians extolling the benefits of genetic testing for cancer predisposition. This physician said that because of this they are now testing younger patients for Hereditary Non-polyposis Colon Cancer/Lynch Syndrome
He went on to talk about a 37 year old woman who had early polyps, was tested, and was positive for a mutation in a DNA repair gene called MLH1. I told him that was great. Then I asked him who he uses for genetic counseling. His eyes glazed over, seeming not to understand the question. Slowly as if to save himself he said "What does she need that for? She's not having any kids." OMG, I almost lost it. Slowly I said "If you fail to counsel a positive test result, you will get sued." Then his eyes lit up "I better go tell her to get counseling" he said.

• Beware non-genetic doctors bearing genetic tests. 1 in 3 misinterpret tests for colon cancer.
• GI doctors maybe more likely to elicit cancer history in the family, but are less likely to notify AT RISK family or even let the patient know family is at risk
• In my education study that I will be presenting at the Association of Program Directors in Internal Medicine in San Diego I found some scary things as well.
• Residents in academic and community programs consistently fail genetics knowledge exams
• The confidence of an Internal Medicine resident physician in performing family histories is inversely proportional to their performance on knowledge exams!
• Physicians in practice now are even worse than the training physicians today
• But the scary thing is, the ones who have the confidence to DO genetics, actually have no knowledge in how to do it correctly.....That's why we need gene sherpas.

Is nutrigenomics ready for prime time???

In May's edition of the American Journal of Human Genetics there is an article positing researching whether polymorphisms in MTHFR affect homocysteine/folate/one carbon metabolism. If so, does vitamin status play a role. B vitamins are essential for the remethylation and transsulfuration of homocysteine, which is an important intermediate in one-carbon metabolism.
What they found is that persons with a polymorphism in the MTHFR (I know what you are thinking....sounds like) namely the change at base 677 from a C to a T, had difficulties with this metabolism when low on B vitamins.
So is Nutrigenomics here? You know, the right vitamin for the right person at the right time...
Not so fast.

1. Homocysteine is only poorly linked to heart disease in asymptomatic patients
2. There is some literature which states that B vitamin supplementation in patients with prior heart attack can cause WORSE outcomes.
3. This is a replicated study, but not on a heterogeneous population...........

All things considered I would do 3 things.

1. Continue with my multivitamin
2. Only supplement with B vitamins if I have NOT had a heart attack
3. Go over the results of any Nutrigenomic test I took with a geneticist