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.

This Week in NEJM

Table 2. Reveals risk of SSRI use in relation to birth defects.



This week in The New England Journal of Medicine 2 articles comment on a once thought problem during pregnancy. Women taking anti-depressants called Selective Serotonin Reuptake Inhibitors (SSRIs) were warned about these drugs which were considered a danger to development of the child. From one study:


Conclusions: Our findings do not show that there are significantly increased risks of craniosynostosis, omphalocele, or heart defects associated with SSRI use overall. They suggest that individual SSRIs may confer increased risks for some specific defects, but it should be recognized that the specific defects implicated are rare and the absolute risks are small......Our analysis did not confirm previously reported associations between overall use of SSRIs and craniosynostosis, omphalocele, or heart defects as a group


The problem is that drugs are not routinely tested on pregnant women. This results in an unknown effect on the fetus/child prior to giving the medicine. The only answers we have are on women who had taken a drug prior to knowing they were pregnant. This leads to very few drugs being available for use in pregnancy.

In addition to the birth defect risk there is a problem with Serotonin Withdrawal Syndrome in the child. While I was a resident in pediatrics at my prior institution I saw 2 patients in 1 month with this horrible problem. It was a tough thing to see those little babies writhing from the withdrawal. They eventually adapted to the lack of serotonin, but I wonder how well the mother would have done with the pregnancy if she was depressed.

The Sherpa Says: Is this personalized medicine? Not Really. But it does have to do with genetics and development. Besides the risk for birth defects, there is another risk for the child. Too bad it is only glossed over in these articles :(

The Confusing Thing About Association Studies.

Today is a moderately slow day for genetics in medicine (I can't believe I just said that). But if you want, you can sell your genome to some stranger for 5 grand USD (I can only imagine the identity theft issues) you do it at your own risk. Listen, if you are hard up for cash please do not sell your DNA sample!! Who knows what they will use it for..........Perhaps to frame you for a crime.

But what I want to really talk about is how confusing association studies can be. So lets examine some of these.

1. Long Term Aspirin use prevents cancer incidence in colon 32%, prostate 19%, and breast cancer 17%* (statistically non-significant). There is some molecular evidence of this in colon cancer. But not the others....... The catch is that you have to use aspirin adult dose for >5 years. Why? Like most association studies.....No one knows. What good is that?


2. Hormone replacement therapy increases Ovarian cancer incidence This study called the Million Women Study is a large cohort of British women. 948,576 postmenopausal women were assessed for ovarian cancer incidence. Users were 20% more likely to develop Ovarian Cancer. 1 in 5, that seems small, but in a million women (well......just 52k shy) that's alot of cancer!!! Especially such a nasty killer. But here's the kicker....


3. Oral Contraceptive hormones Reduce Colorectal Cancer risk! Wait a second.....Aren't these female hormones too? This study shows an almost 40% reduced incidence of colon cancer in these women from the Women's Health Study. Perhaps this has to do with dosage? But Who Knows....It's an association study!!!


4. Smoking Cuts Risk of Parkinson's Disease So that is what the media says about this study. Ok so now you have got me flipping out. No mechanism, No pathogenesis, No explanation.... Smoking kills, but at least it reduces your likelihood of ALSO having Parkinson's. Almost a 40% reduction in the likelihood of having Parkinson's. How? Who Cares....It's an association study! This kills me. The people could have predisposition genes for nicotine addiction/taste/etc which also have some salutatory effects. I do not think that smoking is what saves these patients brain cells!!!! But that's not what the press will tell you.

The Sherpa Says: What is sold as a good piece of science is quite often a piece of something else! Just because it was toiled over and hard work to develop it was done does not make it true, correct or even appropriate. I am here to say.....If it sounds fishy it probably smells fishy too. Throw out association studies until you have a reason for the association!!!

2 months 3000 visitors!!!!!!

Thank you to everyone who picked up my slack on Sunday. I was unable to post the Medicine 2.0 Carnival because of an illness in the family :(

I would like to tell you how excited I am that I have reached 3000 sets of eyes. I am so invigorated by this whole process of blogging. I love educating the public and physicians and this blog is a labor of love. so thank you to all the readers out there.

Lastly I would like to draw attention to an amazing film director and radio talk show host Kathleen Slattery-Moschkau . She has just produced a new documentary to the medical community called PERx…it is available for viewing via the site www.perxinfo.org The film features internationally renowned experts from Harvard and other orgs. In a short time, continuing education credits will also be available to viewers and the film is also available to the general public. All for free (in order to watch the film, click on “educational modules”)

It is an amazing documentary. She has done others including Side Effects the movie with Grey's Anatomy start Katherine Heigl

Please take the time to watch this documentary as well as Side effects. You will be amazed at what you see.

Take Care
-The Sherpa

Harvard Honoring the Sherpa!

Today I was asked to be on the faculty of Harvard's famous Continuing Medical Education conference in the Genetic Basis of Adult Disease. I am extremely honored to be a part of this distinguished faculty. This year's conference will be held October 12-14th. The last conference topics and website are still up and I am certain the new one will be shortly. I highly recommend it for all physicians looking to become Sherpas or at least to stay up with the breakneck pace of genetic discovery in medicine. Several topics include:

• Genetic Causes of Heart Failure
• Genetics of Lipid Disorders
• Genetics of Cardiovascular Disease
• Genetics of Common Psychiatric Diagnoses
• Genetics, Lung Cancer and Treatment Responses
• Genetics of Gastro-Intestinal Diseases
• Barriers to the collection and use of the Family Health History in Primary Care

So who should attend this great conference?

Internal Medicine Docs
Family Physicians
Genetic Counselors
Registered Nurses
Nurse Practitioners
Physician Assistants

I was at the conference last year and am excited to be behind the podium this year. Please mark your calendars!!!!

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.