Francis Agrees with the Kid!

First, Hat Tip to Mr Weber, a longtime reader of my blog. Thanks to him for bringing this to my attention.

Do you remember how I said that genetic counselors lack the clinical training to integrate services such as pharmacogenomics and cardiogenetics?

Nearly got my disinvited from NSGC's Christmas Party

Well, I also said that the slack could be filled by Physician's Assistants and Nurse Practitioners. Which probably only fired up the NSGC more.....

It turns out someone......Francis Collins agrees with me.

In the spring (Yes I missed this) NHGRI hosted “Physician Assistant Competencies for Genomic Medicine: Where We Are Today and How to Prepare for the Future.”

Collins and the other speakers noted the emphasis in PA training on patient education and taking family histories and PAs' ability to spend the time with patients needed to obtain a detailed family history.

"The current system puts physicians in a difficult position," Collins said. "There's too much emphasis on procedures, and not enough on personal interaction. Therefore, the heavy lifting will have to be done by PAs and nurse practitioners." He described the PA profession as a possible "fulcrum" for the integration of genomics into health care.

So Mike, if you read this....give me a call. Sorry I missed yours......

The Sherpa Says: We need PAs and NPs to do the heavy lifting in obtaining family histories and helping to carry out genomic medicine. Why? Most CGCs wouldn't get that a poor reaction to wellbutrin could be due to a cytochrome p450 2D6 polymorpism. Or that a Reynold's Risk score is altered when identifying family members with heart attacks.....They could learn, but it would likely take another 2 years of training an already overburdened field......

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?

Education Initiatives

I have been sick with a nasty virus this week. Vomiting has been the order of the day....yuck :(

Because of this, I will keep this post extremely short but useful. The SACGHS meeting was held last month and I think it was huge. There are a lot of good webcasts that are a must watch.

The rate limiting step of personalized medicine is physician uptake, and the rate limiting step in uptake is education. The SACGHS meeting on the 20th of November was huge reviewing efforts and ideas for education

Overview of Session
Barbara Burns McGrath, R.N., Ph.D. Research Associate Professor at the University of Washington School of Nursing. She reviews nicely the outline for the day and gives us a guideline.

Please check out the lecture given by the National Coalition for Health Professional Education in Genetics Executive Director. He describes a database similar to the one we are working on.

In addition, we need to utilize physician extenders. The advantage of having nurses in genetics is the fact that they have had some education in medication dosages and medical conditions. The same applies for physician assistants in genetics. But they will never replace the counseling abilities of professionals who have trained for 2 years in the field of genetic counseling.

Elizabeth Pestka, M.S. Assistant Professor of Nursing at the Mayo Clinic College of Medicine describes the 80 or so nursing organizations. It turns out 40 of those, 50% agreed to help include genetics into the nursing competencies. In 2006 there was a meeting to implement these competencies into practice.....This is where I sat back in awe. It is 2006 and they are just getting around to integrating these competencies? We are screwed for the next 4-5 years! But it turns out according to Nurse Pestka that these proceedings often take up to 17 years to become integrated!!!

I have worked with a nurse geneticist at Yale and I have to tell you how wonderful it is to share call with a nurse practitioner who is trained in genetics as well. I think we can really leverage our efforts with these talented individuals....I hope it doesn't take 17 years!

The Sherpa Says:
Now if we can only train genetics counselors in medicine!!!

Pediatric Ear Nose and Throat but Not Gene Specialists

In the Archives of Otolaryngolgy last month a questionnaire was sent to pediatric Ear, Nose and Throat (ENT) doctors. These physicians frequently evaluate things such as recurrent ear infections or even childhood hearing loss.

A significant amount of this hearing loss can be attributed to genetics. This survey intended to see how many ENT's used genetic testing, whether they were able to handle results as well as counsel properly.

Here's what they found

1. 69% indicated that they use genetic testing of the connexin 26 (Cx26) gene (GJB2) as an initial test in their workup of prelingual sensorineural hearing loss
   
2. 71% reported that they provide genetic counseling for their patients and their families


3. 45% answered questions regarding recurrence risks incorrectly or stated that they did not know the correct response

The Sherpa Says: This is precisely why we need genetic counselors and geneticists. 45% is not a small number, but I was surprised it wasn't 75%. At a minimum we need a good curriculum in medical school which teaches the principles in this ever changing field. Too bad you can't just pick up genetics on the job. Trust me, you can't. I warn you to run away from any physician who states that they have!

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!!!

Forbes and Genetics Season 5

Yesterday I was at the funeral for my grandmother-in law. I felt bad for her and the horrible diseases she had to suffer through. Yet I wonder, would she have smoked cigarettes if she knew that she would have to go through such misery in her last 9 years.

Notably she had 3 primary cancers, Lung, Colon and Renal. She had kidney failure and needed hemodialysis. She suffered from emphysema. She died with gangrene of her legs that was not operable and not treated by the strongest antibiotics known to man. Was that all due to smoking? Sort of....Smoking combined with her predispositions to disease put her in the hurt locker. Unfortunately she had to suffer for almost a decade. Why would anyone chose to smoke if they knew this was their future? I pose that question to you.

Without further ado. I will delve into the 7th round with the authors from Forbes.

What is wrong with these authors? Did they get any advice regarding these genes?

Round 7 FTO for Obesity

Yes, obesity is a horrible problem. We are getting fatter and sicker by the day. Except if you have a heart attack. There is an interesting piece of literature which says you are more likely to survive an MI if you are obese. Crazy, I know. But somehow it has to do with hormone signalling rather than the higher rate of correct medications being prescribed to them.

But we are here to talk about the risk of obesity with FTO polymoprhisms. True FTO is found in patients with obesity approximately 1 in 5. But how does that or could it change your life? If you had this gene would you eat less? If you had this gene could you take a medication? None are being investigated that will be ready in the next 20 years! This gene is also an at risk gene polymorphism for diabetes. Why didn't they mention that with the deCODE gene????

The gene called Fatso has so little published on its relevance in humans that it is obscene for them to include it here!!!

Sherpa 5.....Forbes 3

Round 8 Amplichip Testing for Pharmacogenomics.

Did anyone read the New York Times article on PGx this week? Hsien Lei had some nice coverage on it. The amplichip will be a key player in the role of psychiatric medications. This article explains this. More importantly it has received significant attention in the psychiatric journals. The American Psychiatric Association has issued guidelines for these tests already. Personally, we are going to speak with several psychiatrists about the implication in treatment that will take place today. Will this change your life? If you have depression....absolutely!

Forbes 4.....Sherpa 5

Round 9 IL-23 for Inflammatory Bowel Disease

From the article-A rare spelling change in immune-system gene strongly protects against developing this bowel disease, Yale University researcher Judy H. Cho says. No branded test is available, but some labs may test for this gene variant.

Will this gene change your life? If you have IBD, too little too late. The IL-23 receptor (IL-23R) has been found to be associated with small bowel Crohn's disease (CD) in a whole genome association study. Specifically, the rare allele of the R381Q single nucleotide polymorphism (SNP) conferred protection against CD. Another change actually predisposes to IBD. Did they explain that in the article? Did they even mention the other predisposition genes? NO. They failed you here and led you up a blind path. Likely to your detriment. Should you have the protective test? what about the predisposition test?

Forbes Failed....

Sherpa 6......Forbes 4

The Sherpa Says: Please stop smoking. If you want to avoid chronic disease, it's better than any genetic test.

BRCA2 not just for adults!

St Jude has released some pretty amazing findings. Today is no different. The researchers there have implicated the BRCA2 (the gene, not the mutations) in the development of the brain. The study found that BRCA2 triggers the repair of damaged DNA from cellular replication in nerve cells. This effect was also found to suppress the development of Medulloblastomas. These tumors account for 1/5th of childhood brain tumors. When BRCA2 function is impaired (as is the case in breast and ovarian cancers) the mice studied developed medulloblastomas.

The Gene Sherpa Says: The jury's still out. It makes sense to me that this gene is involved in medulloblastoma. Especially because this gene is involved in Fanconi Anemia, which can present with brain abnormalities. However I caution the excitement...What prophylaxis is there for medulloblastoma? Brain-Ectomy(removal)?

Weekend of Firsts

Today at ScienceRoll Bertalan Mesko gives me my first Blogterview. This follows hosting my first Gene Genie Carnival

I am very excited to have joined the ranks of those who he has interviewed.


Personalized medicine is a passion for me. The true dream is to not have to call it personalized medicine or personalized genomics. The real name should be Medicine.


I put this cartoon here because it represents the "part-time" work I do for my blog, my training, and lastly my new medical practice. Let me tell you about what is so revolutionary at Helix Health of Connecticut (sorry, I am waiting to release the website).

1. We follow you for life (Something clinical geneticists rarely do). This is necessary given the rapid changes in genomic discovery. Your risks change as we learn more.


2. We are available for consultation anywhere you are (I can't share how). Just Call 1-914-954-6406. Soon we will have online booking :)


3. We put Geneticists together with Internists, OB/Gyns, Genomic Counselors and Pediatricians (when needed) to make care plans one patient at a time. We go over them with the patient to make sure they understand the plan. More importantly, we frequently "check-in"

All of these things require web 2.0, and I am a huge supporter of technology in medicine.

The Gene Sherpa Says: This blog post says it all. Personalized Medicine is US.

The Genomic Revolution AKA the birth of Personalized Medicine

An intriguing second post at the "official blog" for direct to consumer testing company DNA Direct brings some excellent points up.

These are points that I often use when trying to tell physicians what will happen if they don't learn genetics.

It often scares the hell outta 'em, or they say "nah no way, medicine is too complicated for the public to practice." Then they go back to practicing medicine the same way we have for the last century, microscopes, gram stains, and paper charts.

The problem has been festering away and the geneticists, internists and specialists have been asleep at the switch. A Summit was held on the subject Bruce Korf, president-elect of the American College of Medical Genetics realizes this. In fact he has been preaching about it for the last 6 years. You can read about it here, here and here.

Some questions

• Who prescribes your blood pressure meds? Your Internists/Family Practitioner


• Who refers you to specialists? Your Internists/Family Practitioner


• Who encourages you to quit smoking? Your Internists/Family Practitioner


• Who argues with insurance to get paid? Your Internists/Family Practitioner


• Who doesn't have the time to see you let alone continue their medical education? Your Internists/Family Practitioner

I am collaborating with Dr Korf as well as leaders in Genetics and Internal Medicine at Yale, Mount Sinai and Harvard to develop a curriculum for residents. The problems

1. Getting the residents to attend conferences on topics the perceive are of no use to them. (why is this? The reason: their instructors can't speak genetics let alone teach it)


2. Finding physicians who speak genetics and can teach genetics. (There are 83 Geneticists who have certification in Internal Medicine)


3. Getting Residents to understand Genetics (Most don't know introns aren't junk)

The solutions? Are tough. I think we need to teach the teachers, we also need to teach the medical students. Physicians have not changed our level of genetics understanding in the last 30 years. That's why they all think Huntington's is the prototypical genetic disease. When I tell them that MI is the new prototypical genetic disease they laugh. How can we fix these attitudes?

Even psychiatrists agree that genetics is important but they realize the lack of knowledge they have.

Whether it is your OB/Gyn missing indications for referrals 9 out of 10 times or 1 in 3 Internists who misinterprets a genetic test for APC. My oncology friends still don't understand mitochondrial inheritance.

Could the lay person do better? Maybe...But could they write a prescription for the Cox-2 Inhibitor they now should be taking? Who will send them to the surgeon? Who will admit you to the hospital? Who will read and review all the articles needed for your care? Who will?

The solution lies in your hands. The solution is to encourage your doctor to learn genetics. Ask him about DNA and your health, ask her about your drugs and your genes. Force the issue, read as much as you can. When your doctor refuses, leave her care. Find a doctor who will learn. But please, please, please don't leave it up to yourself.

The Gene Sherpa says: The solution is up to you. It is up to your doctor. It is up to all of us, together learning and teaching each other. To get the best health care possible. Delivered by a licensed health professional, not by Domino's..........Wake up people or Wal-Mart is where you will get your genomic revolution!!!

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.

Neat content in San Jose

On rare occasion I will make mention of a great resource that a town or website has. The Tech Museum of Innovation located at 201 South Market Street San Jose, CA 95113 (408) 294-TECH has a great exhibit where you can explore the technology available to geneticists and counselors. In addition it raises the awareness about the Ethical, Legal And Social Implications of genetics and ourselves.