New Gene in Atrial Fibrillation

Did anyone see the New England Journal of Medicine? They published an article on a new gene involved in atrial fibrillation. Don't know what A-Fib is? You have 4 Chambers in your heart.....the top 2 are called atria.....Atrial fibrillation can put you at risk for heart failure, heart attack and stroke.

The last of these is the most ominous. This is one of the major reasons people take Warfarin. Which BTW, can have up to 45% of your metabolism tested for by genetic analysis of CYP 2C9 and VKORC1....And recent studies support its use.

You can get your testing through DNADirect......even if your physician says there is no reason to test for it(They are dead wrong).....Some physician with the company will order it.....The question is, "Whose responsibility is it to tell results to the doctor who put the patient on Warfarin?"

Personally, I think you should be tested if you are on Coumadin or starting Warfarin (same drug as coumadin).... The FDA may now consider it standard of care.....

So this raises an interesting question. I have been against DTC testing with these GWAS studies......especially because they are not even close to mainstream excellent medical care.....but what about when the doctor isn't doing the standard of care? Doesn't a patient deserve the standard? Yes.....I want to remind everyone that the standard of care is the usual standard of practice in one's community. But if you listen to Dr Gary Marchant Law Professor at ASU, that all may be changing.

According to Dr Marchant, since we now have the internet....the "standard of care" may become what's usual practice in the nation.....or maybe even internationally...

So I put it out there for all of you........should we sell DTC genetic testing for a condition which may put you at risk for adverse events? Even when the doctor won't order it?

I can see the malpractice case now......."And why didn't you order the test Doctor?.......(doctor) Well.......you see..........the patient told me they had ordered it."

The Sherpa Says: Rare gene variants may or may not be helpful in understanding this soon to be epidemic condition. It is certainly a good family study. But, I think no one will be offering DTC testing of this gene variant.........It is just to rare. This Warfarin thing is going to get complicated now that a patient could technically order this online.......

A little story

I want to wish everyone in the US a happy 4th of July. The fateful day took tremendous amounts of courage to stand up against status quo. Our Founding Fathers risked life and limb of not only themselves, but also their families. They would not stand for the tyranny and taxation that was levied upon them.

Too bad our medical community isn't as courageous.

I want to tell you a story. I was a resident at the time.

JT was a 16 year old boy who had just been diagnosed with ulcerative colitis. It is an inflammatory condition of the bowel. He had been having episodes of horrible diarrhea and when he received the diagnosis he was started on a medication called 6-MP. If you must know, I was training in Internal Medicine at the time. Prior to this I trained in pediatrics......You see, in pediatrics before we start this medication, we do a genetic test.

6-MP can cause horrible suppression of your immune system and bone marrow. It actually has been used as a chemotherapy in the past. We do this genetic test as essential standard of care in pediatrics. Unfortunately, that was not the case in Adult Medicine. You see, there are adult GI doctors still starting this medication and watching to see if the toxins build up and case a drop in the white blood cells....(Sound Familiar?)

Well, JT went home on 6-MP and was doing great. In fact the week before his birthday he had no symptoms at all. He even skipped his check up and lab draw. But something terrible was going on in JT's body. On his birthday, he went to the bathroom and collapsed. He was unable to get up and was so weak he couldn't call for help. Luckily he had his cell phone on him and while he was in the upstairs bathroom he called his home phone.

His father picked up. "Help dad! I can't get up! I am in the upstairs bathroom"

His father raced up stairs and brought him into the ED. That's where I come in. I saw that JT was just started on this medication a little under a month ago. I ordered some labs and started JT on antibiotics. Based on the fact that he looked white as a ghost, I knew.....he had bone marrow and immune suppression. My lab values came back confirming the diagnosis. JT had the worst side effect from this medication.

While in the ICU/hospital (For 2 weeks and over 30,000 USD in charges) he fought of a bacterial infection in his blood. He received multiple units of blood and injections to stimulate his bone marrow. The Adult GI doctor THEN sent off the genetic test. Guess what? He was a NON-metabolizer of this horrible medication. That's why he did so poorly.

I recently asked my friend (Head of GI at a very respectable hospital) why they ONLY now are recommending genetic testing in Adults. He said, there was "very little evidence behind dosing patients according to genotype". Huh????? I asked if now there existed an algorithm to adjust dosing in poor and intermediate metabolizers. He said "NO"

Yet now, genetic testing is standard of care for dosing 6-MP.

So I ask you.

With an algorithm in place for Warfarin, FDA recs on the label, an FDA approved test and established evidence behind the basis of genetic testing, why do the adult doctors demand "MORE EVIDENCE"? When they obviously can see the aftermath of hundreds of JTs.... Or maybe they can't see the aftermath?

I guess just a few more thousand deaths from Warfarin toxicity need to happen.............

The Sherpa Says:

Sometimes, you just have to err on the side of protecting the patient. With GINA in place, adult doctors everywhere have nowhere to hide when it comes to this. Just ask my colleague, Gary Marchant JD, PhD............. He stated it explicitly in our last CliniCast(TM)

How's that for Genomic Medicine by Press Release?

Warfarin......what a horrible drug!

I have seen people require trasfusions, special clotting factors, surgery. I have even seen people die at the hands of this medication. How can we tame the beast????

FOR IMMEDIATE RELEASE

Contact
Jonathan Freed, Chief Community OfficerHelix Health of Connecticut, PLLC(888) 584-8999(212) 918-9394 fax webcasts@helixhealthofconnecticut.org or visit our website http://www.helixhealthofconnecticut.org/

One in four patients who receive anticoagulant therapy (warfarin) experience bleeding events.

Join Dr. Steven Murphy, Dr. Gary Marchant and a panel of medical, scientific and legal experts in a 90-minute Helix Health of Connecticut CliniCast(TM) on genetic testing, genomic medicine and the science of accurate warfarin dosing.

Greenwich, CT, June 23, 2008 — Helix Health of Connecticut, the first U.S. stand-alone genomic medicine practice, is hosting a 90-minute CliniCast(TM) this Monday, June 30, 2008 from 1:00-2:30 PM EDT to examine:

How Genomic Medicine Improves the Accuracy of Warfarin Dosing

Registration
To register, point your browser here: http://event.netbriefings.com/event/helixhealthofconnecticut/register.html

There is a growing number of patients taking warfarin (also known under the brand names of Coumadin®, Jantoven®, Marevan®, and Waran®) who are not willing to take the risk of experiencing a bleeding event from their medication, and they are undergoing genetic testing to discover and to understand what they must do to manage these risks. Knowing a patient’s genes may significantly aid in initial warfarin dosing.

Webcast topics:

1. Why genetic testing is a necessary feature in anticoagulant therapy.
2. What potential risks exist in “Trial and Error” Dosing
3. Will insurance cover this genetic testing?
4. What are potential tort issues in predictive genetic testing and medical uses of genetic tests associated with anticoagulant therapy?
5. Why aren't physicians utilizing FDA approved testing and dosage guidance?

Panel:
Steven A.R. Murphy, MD - Clinical Genetics Fellow at Yale School of Medicine, and Helix Health of Connecticut's Managing Partner will moderate the panel.

Adam J. Messenger, MD - Specializing in the fields of Pharmacogenomics and Pharmacogenetics, which strive to select the correct medication and the correct dosage of that medication based on an individual’s genetic blueprint. Currently on faculty at New York Medical College and at the Graduate School of Basic Medical Sciences in the Department of Pharmacology.

Glenn Gandelman, MD, MPH, FACC - Cardiologist specializing the diagnosis, prevention, and treatment of cardiovascular disease. Managing Partner, Gandelman Cardiology, PC, Greenwich, CT. Additional training in echocardiography and nuclear medicine. Board certified in Internal Medicine, Cardiology, Echocardiography, and Nuclear Cardiology. Also prominent blogger and writer for the New York Times website About.com. Glenn wirtes for heartattacks.about.com

Eric Johnson, PhD - Chief Science Officer Iverson Genetic Diagnostics, Inc. Director of the Neurovascular/Epilepsy Genetics Research Laboratory at the Barrow Neurological Institute (BNI) in Phoenix, AZ and as Founding Director of the clinical Molecular Diagnostics and BioBanking Laboratories at PreventionGenetics in Marshfield, WI.

Gary E. Marchant – PhD, JD, Lincoln Professor of Emerging Technologies, Law & Ethics, Sandra Day O'Connor College of Law; Executive Director, Center for Law, Science & Technology, Professor, School of Life Sciences Arizona State University.

Registration

To register, point your browser here: http://event.netbriefings.com/event/helixhealthofconnecticut/register.html

Registration is limited, so please register soon.
If you are unable to attend, a podcast of the session will be available on the Helix Health of Connecticut's website. http://www.helixhealthofconnecticut.org/

About Helix Health of Connecticut/NYC, PLLC/LLC — a medical practice that is bringing genomic medicine to health care. With offices in Greenwich, CT and New York, NY, offers patients and their physicians expertise in genomic medicine and provides the tools required to take full advantage of genetic testing.

To view our May 21st CliniCastTM on Genomic Medicine and the Management of Breast and Ovarian Cancer, visit http://event.netbriefings.com/event/helixhealthofconnecticut/Archives/genomic/

Register now....we have registrants from Harvard, Cleveland Clinic, Yale, 23anMe, DNADirect, Navigenics, Mayo, Affymetrix, Iverson, 454/Roche, DNAGenotek, Broad, New York Times, LA Times............Come join the fun!!!

The Sherpa Says:

Have been busy with AG....who is demanding more of my time lately....So I decided to pull a "science by press release move"......whaddya think? In all seriousness, please sign up for the CliniCast(TM) It promises to be one of the best....especially in this time of regulation.....because litigation always follows regulation.........

Warfarin in the NEJM and the Westchester WAG

In a brief clash of civilizations today, I happened to be reading the Westchester WAG in the physicians' lounge. What is the Westchester WAG? It is a swanky monthly publication put out to showcase the high and mighty in Westchester County, NY. Yes it is one of the most affluent counties in the country, yes so is Fairfield County CT oh wait....isn't that where you have offices Dr Sherpa? Yes.....I have one on Park Avenue as well so it should come as no surprise that I was reading the WAG....Well maybe it should since I am from a small town in Pennsylvania and from a humble middle class family.

While flipping through the swanky weddings I stumbled across an article written by Isadore Rosenfeld a physician reporter who also practices cardiology in New York City at Cornell. It's funny that he wrote about coumadin and risk for bleeding, simply because he was standing next to me in the Emergency Department a few months ago taking care of a patient of his. This patient had a significant bleed in his brain because his blood was too thin on coumadin.

But what stunned me was five seconds after I dropped the WAG I looked at NEJM Online. Guess what? The group from Vanderbilt released some of their data on the study of CYP 2C9 polymorphisms and VKORC1 polymorphisms. Truly amazing. Even more amazing is that when you ask an internist about this you may get "I think I read about that in the WAG"....

Why in the hell do upper class socialites get this information before Internists? I am so fired up about this that I am speechless (Almost). Even crazier is why most internists/cardiologists have no clue about these studies. I think that we must solve this problem before we get anywhere in genomic medicine/personalized medicine. How can we do this?As I sit on a conference call planning our presentation at the Association of Program Directors in Internal Medicine spring meeting and we all are asking the same question. I am working my tail of on these solutions.

What was neat in this clash of social groups is that I began to realize that the NYT is right. Especially after Amy Harmon published her article about the Russian who had 350k to burn. Next time you are looking for material Amy......give me a call! The rich will absolutely want this information and use it for better health (if they see us), the poor deserve these services but likely will not get them. As for my parents the middle class, good luck finding an internist who knows that CYP450 is more than one enzyme.

The Sherpa Says:

This NEJM data suggests that VKORC1 may be more strongly linked to INR variability than CYP 2C9. Something that was not so clear. Does this mean we only have to test for one of these genes? I doubt it. In fact this makes even more the case for testing both genes. Why? Because there a less people with SNPs in VKORC1 than in CYP2C9. And Lastly, what in the hell is wrong with medicine? How did we forget that science matters? We didn't, we just never thought that genetics mattered. Now it is too late for these physicians to learn a language....Maybe we need rosetta stone's help?

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......

Pilot study...Buy Stock in Kimball Genetics now!

On Friday I was picking on what I term haters of Personalized Medicine. You know those people who just shoot down the idea because of several reasons

1. Negative articles get print (contrarians always get published)


2. The doubters often have no genetic training (or combined with internal medicine) and are afraid of what they may have to do if Personalized Medicine succeeds (Which it will)


3. Their idea of Personalized Medicine is the snazzy websites of certain whole genome analysis, DTC testing or nutrigenomic fly by the night companies. Which are BTW putting a horrible stain on the name of Personalized Medicine. Francis Collins recently said "over promising can often kill a movement" so stop it. Or at least don't over promise. Please, I beg you.

Recently an article was published in the Journal of Family Practice. I won't link to it because, frankly it is a review which is skeptical, pragmatic, and clearly was written by someone who doesn't travel in the personalized medicine circles.

Why? The authors said that there is no clinical utility literature regarding the newest FDA recommendations for coumadin metabolism genotyping. Well......they were wrong. Perhaps they haven't heard of Harvard's CROWN study or this recently published article in the journal Blood.

I would like to analyze the article and first state that validation is the corner stone of any algorithm study. Well.......that too is coming soon. So before we have wise guy commenters on this study, please know that there is always a validation study in the hopper by the time an algorithm gets published.

So this study was performed on orthopaedic patients having knee replacements or revision surgery (I can hear the Cardiologists already.....well, that's not atrial fibrillation) Hold your horses, that study is coming.

The mean age for a patient was 58 years, with a range of 21 to 83 years and median of 59 years. Pretty close to the average warfarin user.

So what are the limitations let's let the authors speak.....

"this study has other limitations. First, our study population consisted entirely of patients initiating warfarin for deep vein thrombosis prophylaxis following total hip or knee arthroplasty. The ability to generalize our model for other indications is unknown and should be studied in a broad population. In particular, the appropriate starting doses and the ability to safely initiate warfarin without genetic information need to be examined in other patient groups—including nonsurgical populations"

The Sherpa Says: Well, this will be the first of many studies analyzing algorithms. Do I think it will be worthwhile? Absolutely. The end point was the therapeutic warfarin dose. They defined therapeutic dose as a dose that gave an INR (blood test indicating thinness of blood) in the target therapeutic range after 7 consecutive days. They managed to establish an algorithm which matched needed dose to approximately 80%. Which is more than I can say for the average Internist who may not even know the average dose based on ethnicity. So I await the validation but refuse to say there is no clinical utility literature. So to both extremes I say "Stop hating on personalized medicine and please stop over promising. If you both can tone it down, then we can get somewhere....safely" Oh and BTW for you VCs/Investors/Hedge Funders out there, Kimball Genetics has an FDA approved genotype test for warfarin metabolism........

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!

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!!!

Restless Legs and deCODE

In the New England Journal of Medicine next week there will be an article on yet another study done at deCODE. Their model may be that of the next wave of pharma companies. Personally, not a bad model, but imagine Pfizer sending press releases on all of their Phase one data. It would result in a lot of "white noise" that may or may not have some future health news. That seems to be what is going on in Reykjavik. At least they are getting their money's worth for the Icelandic genome.

In this study the research team conducted genome-wide scans of nearly 1,000 Icelanders and 188 Americans. A new chip technology was applied along with genome wide association methods. This approach allowed Drs. Rye and Stefansson to probe more than 300,000 small regions (single nucleotides) distributed across the entire genome for differences more common to RLS sufferers as compared to population-based controls.

The expedition was to find a gene linked to Restless Leg Syndrome. Sleep is often interrupted in these patients and can lead to a terrible lifestyle. There is a high prevalence of this disease in North America and Europe. Seemingly a Caucasian disease it was natural to look for this linkage in the Icelanders.

Here's what my Head Genomic Counselor had to say:
"They found an intronic SNP in the BTBD9 gene that has an OR of 1.7 for PLM (heterozygotes) and an OR of 2 – 4 for homozygotes for the A allele (vs. the wild type G allele).
The interesting thing is that it seems to be associated with PLM alone and RLS with PLM, rather than RLS without PLM.
They replicated the association in three independent patient groups – two in Iceland and one in the US. Seems like a good study from a design perspective."

What does that mean? Let me translate. The searched the genome of these Icelanders for genes linked with restless leg syndrome versus periodic leg movement disorder in sleep. RLS is a common neurologic disorder which involves both sensory and movement components. Identification of the genetic under pinnings in RLS has been difficult because of several confounding variables including other medical conditions. Periodic limb movements in sleep are a component of RLS. These movements can also be absent in the presentation of RLS.

The group found and replicated a non-coding change in a gene called BTBD9. This gene was also correlated with depleted iron stores. RLS has been long linked to iron deficiency and this makes this whole study "seem" to be correct.

The Sherpa Says: All this is fine and Dandy, but what clinical use will this finding hold. Personally, I feel that this is a confusing issue. The predisposition test would let us know something that we currently cannot prevent. Testing for this???? I wouldn't recommend it. But I am certain they will market this test just like the risk for atrial fibrillation. Not a bad model over there......too bad it could lead to misguided healthcare in the wrong hands. Why? Because who would tell you to take a blood thinner, just because you have a predisposition to atrial fibrillation? Only those doctors looking to get sued........

Britain Needs A Sherpa!

I just received an email from a reader who pointed my attention towards a popular morning program in the UK. They interviewed a person who had taken a genetic risk test despite the significant cost (I am uncertain of the test). The costs online are up to 1000 pounds, almost 2000 USD!

She did this simply because she was concerned about pancreatic cancer (her father had died of it as age 69). She announced that she was free of the risk of pancreatic cancer but had learned that she shouldn't take HRT and had stopped it.

She had also learned that she was at risk for age-related Alzhemers' (although the discussion wasn't at all clear". The discussion ended with the enthusiasm for the testing from doctor who is associated with the TV show and a call from the lay-woman that such comprehensive screening should be made available on the NHS.

My reader did think that it was interesting that there was no discussion as to the considerable potential costs to the NHS of follow-ups that have to be ordered after such screening.

The company feature in this show was GeneticHealth and from the looks of it they are cashing in on the snake oil gravy train. Francis Collins has warned of this type of testing. You can tell what they aim to do by looking at their news headlines "Could your DNA hold the key to a wrinkle-free face and a great figure?"

Thanks To Shinga Xavier for the heads up on this madness.

The Sherpa Says: How come no one in the UK is railing against a company like this. In the US there are significant consumer protection laws. Still even here they fall short in protecting completely. This woman thinks she is risk free of pancreatic cancer........Doubtful. What kind of doctor do you have on the Boob-Tube speaking the benefits of this bogus testing? The answer....He's a boob on the tube! Direct To Consumer Testing for non binary tests is absolutely dangerous and must be stopped!!! The Sherpa is Hoppin Mad!!!

WBUR posts on coumadin and Personalized Medicine!

Despite the heavy Boston accent,

On WBUR Carol's worries regarding Coumadin and Personalized Medicine hit home to millions of patients everywhere. This is an excellent example of the press' coverage of my specialty. Dr Sam Goldhaber a physician at Mass General talks about the promise of pharmacogenomic testing in blood thinning and avoidance of its horrible side effects.

Lastly they interview the Pope of Personalized Medicine

Francis says "Is this the scenario we want personalized medicine to enter?"
"The public thinks that this is snake oil (i.e. Direct to consumer testing and nutrigenomics)"

In addition Dr Collins talks again about the 2 Betty's and the potential to miss diagnose and have horrific outcomes.

The Sherpa Says: "Save Betty!!!" We must take the time to educate everyone about the promise and pitfalls of personalized medicine. In My Humble Opinion, the only thing to move physcians will be the slew of lawsuits that happen after we publicize our great outcomes at Helix Health of Connecticut.

Coumadin and Buccal Swabs!!!

Prior to posting part 3 of the Brown conference I had to put Kimball Genetics on the Radar! The have devised a test to help with the scourge of Adverse Drug Reactions and Coumadin! Coumadin/Warfarin is designed to thin the blood and prevent clots causing stroke and pulmonary embolism. The test detects specific variations in the CYP2C9 and VKORC1 genes, the presence of which result in lower dose requirements for warfarin/coumadin. To help with implementation the nice people at Washington University, St Louis. The interactive website at warfarindosing.org has been developed by Brian F. Gage, MD,MSc, colleagues and is ideal for this purpose.

With every test their is the Good, The Bad, and the Ugly.

• The Bad? Turnaround time is a day. At the American College of Cardiology conference there was a claim of 1 hour turnaround time with an unspecified test!


• The Ugly? Will physicians know to advise patients of the familial implications of these tests? And will the 2 million plus people on coumadin be able to understand the counseling?


• The Good? This test is 99.9% sensitive and accounts for over 35% of coumadin metabolism variation

The Sherpa Says: I have to go tell it on the mountain....but I will be back to go over coumadin metabolism and this test in a finer detail. For now, hold tight and get some help with test interpretation if you plan to use it.

Coumadin and Cancer!

There are two things I would like to post today. There have been a lot of posts regarding the new findings in FGFR2 and risk for breast cancer. I said yesterday that the population attributable risk was less than family history. This is correct if you are talking about pre-menopausal breast cancer.


I have taken some time to review the article with a fine tooth comb and here are my summary hot points.

1. The study only analyzed post-menopausal, non first degree relative, "sporadic" breast cancer. Thus these findings may not apply to you if you have a first degree relative with breast cancer.
2. The risk for having cancer is increased even if you are wildtype ("normal") for this FGFR2 gene. Therefore the O.R. of 1.64 should be compared with 1.20 for the wildtype Odds Ratio.
3. The authors note that in a pre-menopausal population these findings were NOT associated with increased risk

Second Item. At the American College of Cardiology meeting in New Orleans an announcement was made that there is a 1-hour rapid genotype analysis for coumadin metabolism genes VKORC1 and CYP 2C9. Interestingly enough a physician Dr Jeffrey Anderson found that 72% of his patients on coumadin had a variation affecting metabolism of this blood thinner.

The Gene Sherpa Says: You must always use a guide to identify whether a test is useful or a study is useful. Unless you are already a Sherpa. This breast cancer finding in a subsegment does not represent all breast cancers! And We are well on the way to personalized medicine if we can genotype in less than an hour! Coumadin is a dangerous medication that can cause severe bleeding. I am certain that this point of care testing will find its way into the primary care physicians office. Now who's going to do the counseling??????