Duh!!! For at least 5 years we "knew" this!! PPIs and 2C19

In case you missed my further rants about how everyone on Plavix should be tested for 2C19 polymorphisms, often splice site changes, which could hinder the effect of plavix......Now a big fat , No Duh....comes out in the Journal of the American Medical Association.

Let me lay the ground work.........

Plavix, one of the top 3 medications in the world

1. Prescribed to prevent a second heart attack or stroke


2. Prescribed to prevent a clot forming in a coronary artery stent, which one often receives after having a heart attack


3. Given in patients with PAD

It turns out that in order for this medication to work it needs to be converted from Plavix into its active metabolite. This type of medication is called a Pro-Drug. There are others like this, including tamoxifen and codeine.

Well, the enzyme which converts Plavix to its active metabolite is called CYP 2C19. We have known this since 2000. A professor of mine actually published on this back then. We even knew about so called "Plavix resistance" .

We know theorize that Plavix resistance is mainly due to polymorphisms in CYP 2C19. This has been studied since 2000, but only recently came to major light with articles in Lancet, New England Journal of Medicine......and my rants on this Blog and in Lectures at Yale and Affiliated Hospitals....

Now........the fly in the ointment....

Proton Pump Inhibitors(PPIs) like Prilosec and Protonix........Are available over the counter since they are so "benign"......

Well, we have known and studied since 1997 that Prilosec inhibited 2C19's ability to biotransform other medications.

So what about allof the people taking BOTH Plavix and PPIs? Let me guess.... the results are like the data in 1997!!!!! That patients receiving both medications have little Plavix effect and decreased platelet inhibition.

Well, that was shown in 2006 and even some preliminary data in 2004.

So one has to ask, well why haven't we put anything on the label? Why haven't their been huge warnings....even more so....how many people are on Plavix and PPIs? The pharma companies know.......how come they haven't warned people pre-emptively that there "May be a problem"

The FDA always asks how much evidence is enough.....but now with the study just published in JAMA it is painfully clear.....we have missed the boat by requiring TOO MUCH PROOF!!

What does the study say? Those who are on Plavix and Prilosec are 27% more likely to have a recurrent hospitalization or DEATH from acute coronary syndromes than those NOT ON THIS COMBINATION!!!

AND, 2 of 3 people in this study on Plavix......were ALSO on Prilosec!!!!

This study was a retrospective study which does have limitations, but has me asking why do we have 3 years of data on this combo 2003-2006, when we knew that there may have been a problem back in 2000????

Why didn't we do a better post market analysis?

What's even worse......people advocating pharmacogenomics are getting push back from lazy clinicians who are asking for randomized double blinded studies to PROVE this problem.....

But here's what they don't know.....the pharmacology literature is robust with Pgx data, just as it was with PPI 2C19 inhibition data....Too bad doctors don't read pharmacology literature....

Anecdotally, when I was a resident, I pulled all of my patients off PPIs that were on Plavix. What did I do? I did a med reconciliation and became aware of the possible interaction.....In this case it was NO BIG DEAL to put them on H2 blockers instead......

Primum Non Nocere.......not PRIMUM RANDOM DOUBLE BLINDUM.....

This just pisses me off.........9 years to come to clinical light........That is a damn shame, That may also happen with Prasugrel....

The Sherpa Says: Why do we as physicians wait for a large organization to say stop, when we have the education to figure out from the literature when we should have stopped? Or for that matter, when we should have started......the burden of evidence has been overcome here.....Unlike SNP Scans.......

Plavix, Plavix, Plavix

I just finished up giving a Yale Affiliated Hospitals Lecture to a bunch of residents on the topic of pharmacogenomics. Not to toot my own horn, but several residents came up to me and asked......"Why didn't I learn this in medical school?" Even better was the 3rd year medical students who just finished up Pharmacology last year....they said "The EXACT SAME THING".......

Ok, so here's my beef. Why in the hell aren't we teaching this in medical school. I know I have said this before......but what in the hell is going on here? We have data and not just data , but DAMN GOOD data....and instead we are still pumping JakStat pathways down the throats of our second year medical students.....

I have a very big problem here and I need it fixed. Why can't we get physicians who study PgX to teach this? It is simple really, I know many more doctors who like PgX than who like other sides of genetics.....why not let them in to teach these students????

I see no barriers other than cost of paying clinical faculty, which is always the barrier.....

That being said, even with the great Plavix data out there, we still have non believers....

An editorial in the Annals of Internal Medicine hints at it.

Entitled "Personalized genetic Prediction: Too Limited, Too Expensive, or Too Soon?"

It gives me a reason to say bull$h!t

The title is an eye catcher which most busy clinicians won't read, but instead use the title as a guide post for attitudes on this subject....Trust me, I know clinicians who did precisely that.

You see, the problem with this editorial is that it should have been titled "9p21 to predict cardiovascular risk: Too Limited, Too expensive, or Too soon?"

I love how the Annals completely makes a hash of what Personalized Medicine is!

A quote from the editorial

"As these studies show, we are still far from personalized medicine."

I guess Dr. John doesn't see pharmacogenomics as part of Personalized Medicine

Or maybe he just doesn't read the New England Journal of Medicine......

Either way.....this is not a responsible way to publish a journal and disseminate personal opinion.

I personally think it is because the ACP (American College of Physicians) does not have good advice on how best to get its body up to speed on this stuff.

But I know this is not exactly true, because they sponsor Mike Murray's Harvard course on the Genetic Basis of Adult Disease, which has one lecturer on Pharmacogenomics

So why? Why did they fail to include personalized medicine into the ACP meeting?

Why did they let this guy give the opinion that disease prediction was the only thing in personalized medicine?

Why? I have no clue. But I would love to have someone from the ACP tell me.......

Please!

The Sherpa Says: Education, Regulation and Litigation will be the drivers of this field.....Not the Data......That is a damn shame. And yes, I did go to Penn State!

A New Hope

I just got out of a meeting with a Very Nice Angel Investor. He had some really interesting ideas that I am dying to tell you about....but I just can't.....for now.

But what I can do is now tell you about how sad I am that I missed "Navigenics 2008 Opening Day" I don't know who was pitching...but from what I heard it was a success. Speaking of success, I just had another patient come to me with the magic 84 page printout. It will be interesting to see how the Mayo study comes out regarding all of these lab reports and patient comprehension. A few days ago a patient was seen by us for Pharmacogenomic analysis and he was puzzled by the laboratory reports and data. He actually thought that the boiler plate information on the bottom of the report was actually personalized. He asked "If I only have 2 copies of this, then why does it have 9 different types on my report?" I kindly reported that it was the boilerplate explaining all of the poor metabolizing alleles. Of which this patient had 2. Yes reading lab reports can even be tricky for physicians. Think it has changed since the 90s? Dream on!

It is no surprise that genetic counselors are on staff at Navigenics. It is the right thing to do....but how many genetic counselors know what CYP 450 is? Oh I mean what CYP 450 are. How in the world can we reconcile this? Even better question....how may physicians know what CYP 450 are? But there is a new hope. An institution being set up by myself and others. We are currently looking for donors and we endeavor to set up educational events and group sessions. We will work with Corporate Genomics, Academic Genetics, Corporate Labs, Academic Medicine to develop training workshops. Interested???? Email me.

This type of education is the future. We need to walk patients and physicians through reports, through taking family histories, through medications....together. Preferably face to face or television to television. It is my belief that we cannot do this through a scalable 84 page report....or a Flash'd/XML'd out site. No amount of money will replace the human element. So we need to train more Sherpas....and I am looking for funding to do it.

The Sherpa Says:

I am headed to SoHo tonight. Maybe they will have a million or two lying around???? After all, this is a new industry ;)

Toxic Epidermal Necrolysis and Pharmacogenomics

For those who don't know what TEN is. I have a picture for you.

Toxic epidermal necrolysis (TEN) is a clinical syndrome characterized by severe exfoliative skin changes, erosive mucosal involvement, and potentially life-threatening multisystem involvement. Although this syndrome is considered uncommon, its true incidence may be underestimated because of a spectrum of manifestations that may lead to misdiagnosis of milder forms of the disease. TEN most commonly occurs in adults and is seen slightly more often in females. All races are affected

Yesterday, the FDA issued guidance for pharmacogenomic testing of patients taking the medication carbamazepine. What is this drug? It is used in prevention of seizures treatment of mood disorders and schizophrenia.

More than 100 drugs have been implicated. Medications most often involved are systemic sulfonamides and other antibiotics, allopurinol (Zyloprim), antiepileptics, and nonsteroidal antiinflammatory agents . The time from the first dose of a drug to the first cutaneous manifestation is usually 1 to 3 weeks

This medication has now been flagged as a cause of TEN that has preventable testing. In addition to the novel testing of an HLA haplotype, the drug is metabolized by CYP 3A4. CYP testing is available for ultrarapid metabolizer status. However, that is not what causes TEN. No one knows exactly what causes TEN for sure.

But the biggest problem is the 30-40% of people with this disease die from it or it's complications. Now wouldn't it be great if we could at least test a sub population at risk for this before giving this medication?

We can. From the FDA

Significantly more common in patients with a particular human leukocyte antigen (HLA) allele, HLA-B*1502, this allele occurs almost exclusively in patients with ancestry across broad areas of Asia, including South Asian Indians. Genetic tests for HLA-B*1502 are already available.

The Sherpa Says:

Ladies and gentlemen, I submit, we are now moving in to the era of personalized medicine. This test is yet another example. If 2007 was the year of the personal genome, I say 2008 will be the year of the personalized medical care. I hope that we can accurately represent the utility of these services. Wingedpig once again comments on the shortcomings. Also, where are the BRCA SNPs? Has Myriad's attorneys knocked on 23andMe's door yet?

4 days too long!

I have had to sit out of the blogging game for 4 days. This was a self imposed punishment to help me get re-oriented. I have been working hard on the practices and have been talking to many different people about our next steps. So I apologize.

There are some neat things going on in the field of Personalized Medicine lately. My old friend The Mount Sinai Hospital will be offering CYP 2C9 and VKORC1 testing for Warfarin dosing. This is in addition to the other corporate labs which are already offering it, such as LabCorp, Kimball, Genzyme....

Why? I think this is part of a greater play by academic centers. Notably, Mt Sinai has a Institute of Personalized Medicine. This department was endowed by Samuel Bronfman's Philanthropic Arm. They have a mission which is to bring personalized medcine research to a point where it is ready to launch.....

They are also setting up a bio bank, offering money for people's genomes. Sound familiar? I had just talked about 23andMe possibly using their data in a similar way.....Except the investigators would be making money off of the research subjects...

Here's the difference....The Mount Sinai School of Medicine will be doing research on their own. Notably they have been doing it already. Despite some scuttlebutt about turf wars at a big institution they have started to play nice in the sandbox and put out some good research. This article I find especially timely. we have always known that genotypic variation plays a role in the metabolism of certain drugs. In this case, 2D6 metabolism has an even more important in the Ashkenazi Jewish. Here they find twice as many persons af Ashkenazi heritage have ultrarapid 2D6 metabolism. This enzyme is the key player in many psychiatric medications....

The Sherpa Says: I am absolutely certain that ethnicity will play a huge variable in the frequency of these ultra-rapid metabolizers of any medication. Pharmacogenomics may be meeting genealogy sooner than we think....Thanks to Sherpa Hsien for helping me with a SNP issue the other day......

An Attorney General, A Genetic Counselor and Gap Phase

Today my phone blew up. I had five different Venture Capital firms call me to pick my brain about "The New deal with Illumina" as well as "Viability of Microarrays in Pharmaceuticals"

I must say thank you to those who called. I look forward to speaking with each of your esteemed groups.

That being said......I must say that there is a general consensus of the physician side that the time for whole genome analysis for your health is not now. I agree. An excellent scientist Dr Bettinger over at the Genetic Genealogist posed a great question.

"What is your opinion on Gap Phase?....."

"that inevitably long period of time between (1) the availability of inexpensive whole-genome sequencing, and (2) the point when the medical field produces enough specialists in genetics to handle the work load."

Well....I don't think that is what gap phase is. Currently there are less than 1300 geneticists for the WHOLE country. In addition. If we expect personalized medicine to affect things like Coumadin, a drug which is dosed by adult doctors primarily, then shouldn't we have some adult geneticists? There are less than 100 of these doctors in the US. LESS THAN 100!!!!!!! Even scarier, there were less physicians sitting for the genetics boards this year than 5 years ago.

I don't think Gap phase has anything to do with these people. I think GAP phase has to do with literature and evidence based medicine. In medicine, doctors try not to do anything without good data that shows long term outcomes. When they veer from this path you get train wrecks like drug eluting stent mishaps and Vioxx!!!! Soon to be Avandia!!

So what do we do with the gap? We mind it!! We don't jump blindly without looking out for the fall that it may cause. Overselling genomics could destroy personalized medicine's promise! I will not let some overzealous "Let's do it because the technology is there, and so cool" people ruin our future. Even for a quick set of chromosomes!

As for trained professional shortage....When we have fighting between lab companies and the people who traditionally order tests, then we have a problem. Which is the case with Myriad.

There is a great NPR spot coming up. A colleague and teacher of mine Ellen Matloff. She will be on there with Attorney General Richard Blumenthal discussing the controversial Myriad advertisement campaign that is now running in CT, MA and NY. You can listen in online Sunday Evenings at 6:00 PM http://www.wnpr.org/

Ellen is the bane of Myriad's existence and because of this the genetic counselor is notably absent from the Myriad commercials.....hmmmmmm

She has started an online petition to start asking state's attorney generals to investigate misrepresentation in genetic testing. My genetic counselor has a wonderful take on this whole thing. BRCA testing is NOT in Gap Phase, unlike whole genome sequencing for healthcare. It has significant amounts of data and studies. It is clinically useful and can be of benefit when used properly. The problem.....The Fox is watching the Hen house. Lab reps are probably not the best people to be teaching physicians about using these tests, trained counselors and Geneticists are.

I am scared for physicians and this should serve as a warning call.

MYRIAD/23andME/Navigenics/futureunnamedbiotech are saying, "if you aren't with us, then you're against us, AND WE WILL REPLACE YOU WITH COMPUTERS!!"

The Sherpa Says: When my phone blew up today, the question was not, how can we invest in a safe product and service that will benefit people's medical care. It was..."How can we make this scalable?"......The answer does not lie in training genetics professionals....that takes at least 9 years after college. The Answer......All roads lead to Google.......Too bad the data is not there and computer guys haven't been burned as bad as those Vioxx doctors......

Clinical Utility? Now all you doubters look foolish!

I just wanted to let everyone know again about the website for coumadin dosing according to genotype. This algorithm is available on the web at warfarindosing.org

This algorithm is going to be published tomorrow in the journal Blood.

For all you hater Internists and Clinicians who refused to learn genetics or maybe never had genetics......Welcome to the 21st Century, Read the name tag. You're in my world now Grandma!

FDA Warnings, Breast Feeding and Codeine

This is something I have been following for over a year now. There were several published reports of mothers taking codeine and their babies having problems.

First, let me explain how that could happen. Codeine is something called a pro-drug. That means Codeine essentially does nothing when taken. It only works by being converted to another substance in the body. In codeine's case, that substance is morphine. That's correct, codeine is really morphine.

So what happens in these new babies is due to the metabolizer status of their mothers. If dear old mom is an ultra-rapid metabolizer of codeine, then there will be higher than usual amounts of morphine in the blood, and in the breast milk.

Recently the FDA issued a warning regarding codeine consumption during breastfeeding.

"Codeine frequently is prescribed to women after giving birth for pain associated with episiotomies or caesarean sections, the Washington Post reports. In addition, codeine is a common ingredient in some forms of Tylenol and nonprescription cough syrups, the Los Angeles Times reports" from medical news today..."According to FDA, about 16% to 28% of people with North African, Ethiopian and Saudi dissent are ultra-rapid metabolizers. Labs usually charge between $500 and $1,000 for a Roche Diagnostics test that can determine how people metabolize several drugs, including codeine"

The Sherpa Says: So does this mean all nursing mothers should be genotyped for polymorphisms in their metabolizing enzymes? Not really. What should be done is 1. Less convoluted pain medications should be given 2. If mothers are taking this drug, then they need to monitor their child for signs of intoxication (slow breathing, sleepiness, failure to feed) 3. Watch the news, you are bound to find more out about personalized medicine there rather than from your MD.

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!!!

Weekend Off, But Genetics Never Rests.

I took the weekend off from posting because I was in the hospital 3 days in a row. It is truly amazing how little you know when you start internship. I am frankly amazed that there aren't more problems during July. The statisticians must have been crazy.

Rule number 1-Don't get elective care in July
Rule number 2-Don't go to a training hospital in July
Rule number 3-Always ask about the medications a nurse gives you

Enough public service.....Back to genomics and personalized medicine.
I was sent an email the other day from a company called Genelex. You may have heard of them. They have been offering pharmacogenomic testing since 2000. Yes that is correct. I thought we should take the time to review what this company offers.

The first tool is called GeneMedRx.
According to the site : GeneMedRx is the first software tool available to prescribers that predicts drug-drug interaction risk based on both cytochrome P450 metabolism and genetic testing. This allows for enhanced understanding of metabolism-based adverse drug interactions or lack of efficacy.

I would say that after reviewing this tool it is a very good resource that should be considered. In addition, a company such as Revolution Health or even an EMR would be smart to snap up a tool such as this. It has over 2000 drugs and metabolites as well as significant links to PubMed. For a demo.

I will continue to review this company throughout the week. They have some very useful and some debatable services as well.

The Sherpa Says: Sorry for the weekend off. I know.........But like C3PO says "Please don't deactivate me" There is alot going on this week and I hope to cover it all. Keep Climbing.

Taking Appointments For August

After Much Ado, Legal Wrangling and Getting the Practice up, we are now accepting patients!!!! We have dates available in August. I have to tell you how very excited I am about this revolutionary style of medical practice. Heck, even when I talked with Dr Collins he was excited.

The biggest problem with genetic care as well as primary care is its true lack of continuity. Helix Health of Connecticut of CT will fix that problem and more. Yes, I know you may be thinking "Gosh, this is a shameless plug for his personalized medical practice"

You are correct it is completely shameless. It is a revolution. The future of health care is about to change in a big way.................

The Problem with Avandia

Warning....This is a non-genetics post (for now)

Yesterday in the media and the New England Journal of Medicine an article was released. This meta-analysis implicated a PPAR gamma activator named Rosiglitazone in the increased risk of heart attack, and death from heart attack. The risk fo heart attack was increased by 43% and the risk for death from cardiovascular causes was increased by 64%. Now before you get too crazy let's do some data analysis.

1. The study is a meta analysis of 42 articles. This methodology is fraught with problems.
2. The second result....64% increased risk of death is not even statistically significant P value of 0.06 with a confidence interval which includes REDUCED RISK OF DEATH.
3. This study is a policy play, based on the fears of Vioxx.

The Gene Sherpa Says: Don't get me wrong, if you have risk of heart disease in the family, then you should not take this drug now. At least until a full proper study can be done. But please, don't freak out. Just talk to your doctor about this risk!

Disturbing Drugs

In the most disgusting display of capitalism this side of the I don't know where Wired Blog posts about PharmaTV. Four companies, Johnson & Johnson, Pfizer, Novartis and Procter & Gamble are behind this disgusting "educational" television channel. The article can be found in the Guardian. I am deeply disturbed by this precedent. At least you can tell the difference between an ad and a show. True, even these days product placement, fake blogs, etc. continue to blur the lines.

The Gene Sherpa Says: What's next? DTC Gene TV? Shame on all of you.

Chemotherapy Toxicity Genes

Imagine if you could predict who would get the nasty side effects of chemotherapy before giving it. We could then taper the chemotherapy giving less of a dose and achieve the same response. Well, the first part of that dream is here today. At St Jude Children's Research Hospital they have been actively investigating pharmacogenomics and chemotherapy. In a study to be released in the May 15th edition of Blood we have just that.

The major findings include

• During the induction phase Vitamin D Receptor polymorphisms were linked with gastrointesinal symptoms (diarrhea, nausea, vomiting) 6.85 times more likely.
• Polymorphisms in Cytochrome p450-Family 3-subfamily A-number 5, were almost 5 times more likely to have infections and Neurotoxicity
• During consolidation phase the Reduce Folate Carrier polymorphism led to the GI side effects with a 10.4 odds ratio.
• UGT1a1 polymorphisms led to jaundice as well as reduced clearance of an agent called methotrexate (a chemo drug) perhaps leading to increased toxicity as well

This is a major study, that has had some replication in one gene or another. But the compiling of these polymorphisms has not been done. Likely we will need one more round of evaluation. But after that...we could have a pharmacogenomic test for side effects.

The Gene Sherpa says: This is great, but how do we adjust the chemo to avoid these reactions. We will likely need an adjustment scale based on polymorphisms. AKA Personalized Medicine! I am certain St Jude's has this in the works. Let's keep our eyes peeled :)

Gene Doping in Athletes

This week in EMBO reports (European Molecular Biology Organization) the dreaded issue of gene doping rears its ugly head. Normally I only report on genetics pertinent to your health. However this raises special interest for me. I was a college athlete and am fascinated by the extremes to which we would go to shave off that 0.5 second. This article raises significant questions about using gene therapy to enhance performance. Where will we stop, what line will be drawn? Gene therapy to cure disease....Why isn't weakness a disease? What about poor vision? We allow athletes to have LASIK, why not gene therapy? The danger is gene overdose. Once introduced into the body we have very poor mechanisms to control expression. But for that extra 0.5 seconds is it worth it? What about for those extra 200 points on the SAT?

The natural extension for these test yourself companies is now treat yourself. Are you a 100lb weakling? What about being predisposed to obesity? Treat yourself. Would you?

Personalized Medicine is coming

I am back! What a fun week in San Diego. I was at a conference for Program Directors (Responsible for training resident physicians) in Internal Medicine. During my absence a few things have come up. But first I want to talk about the conference and how almost all program directors acknowledged that they do not teach genetics in their curriculum. Moreover, several expressed interest in our curriculum. I am so excited that these teachers are now realizing the power of genomic medicine.
That being said.....Appropriate use of the genome brings great results. Misuse and blatant promotion such as that done by a direct to consumer testing center in San Francisco (I will not say their name) will only lead to sullying of the geneticists' reputations.
On Genetics and Health there is a post which lead me to a website that was promoting risk factor testing for diabetes. Like any other path I will lead you through, there is good, bad, and unknown. First the good.
Diabetes is an awful disease and the longer it is untreated the worse the outcomes. So naturally I am excited about being able to diagnose it quicker. BUT this test does not diagnose, it only shows increased risk.
Here comes the bad.
In fact, the risk of carrying this gene polymorphism is not even half as much as having a sibling with Type 2 diabetes. Why would a company promote this test rather than promote taking a family history? The answer is simple, because they make MONEY off the test or interpretation and not off taking a family history and counseling in person. I have no respect for that. In fact, people will be amazed to know that this company makes all of its profit from marking up test costs or non face to face services, and serving as an "educational" resource. What education leaves out that the best screening test for hemochromatosis is iron studies? Shame on them.
Lastly, the unknown.
Now that I know this risk, how do I use it clinically. There is no study showing that metformin or a PPAR gamma here will prevent the onset of diabetes in this risk group. What I am saying is....before we go down this road 3 things need to be done

1. A 3 generation family history
2. Research on prevention in this high risk group
3. Companies looking to make a quick buck off of you on testing without clinical utility need to be punished. Or at least I can lead you away from that confusing and dangerous path.

If you do wish to do in home testing without the help of a TRAINED genetic specialist who examines you and takes a full family history, then you risk the difficulty of test interpretation, appropriate follow up, and possibly improper care as a result. I hope you choose wisely.

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