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!

Tip60 tips off breast cancer aggresiveness

According to a study published today in the journal Nature shows that a gene called Tip60 is involved in the development of breast cancer. But more importantly.........reduced expression of Tip60 protein leads to more aggressive tumors. Tip60 is a tumor suppressor gene unlike others.....

Let me explain. Usually you are required to have both copies of a tumor suppressor gene affected to start developing tumors. I feel that this theory along with all things mendelian will start to fade away. Why? Because we are much more complicated that punnet squares. The field of systems biology is growing and we will soon realize that we are a complex interactome, not just autosomal/Xlinked/Ylinked dominant/recessive genes.

So where were we? Well it turns out that this tumor suppressor gene only needs one copy malfunctioning to start enhancing tumor growth

From the Primary Investigator Dr Tim Crook "More aggressive types of breast cancers tend to recur after treatment, spread to other parts of the body and respond less well to chemotherapy. The identification of Tip60's role in breast cancer is a step towards predicting the aggressiveness of the disease and then individualising chemotherapy for women. If we can transfer this knowledge to the clinic, it could have dramatic effects."

From the Study

* Activity of the Tip60 gene was found to be lower in nearly half of all ductal breast cancers studied (21 of 52 cases) and in 17 out of 20 of tumours classed as 'high grade'

* The amount of TIP60 protein was studied in an additional 179 breast cancer samples. In almost three quarters of these (129/179), there was no TIP60 protein present in the cells' nucleus - in healthy cells this is where most of it is located. The proportion of cancers lacking nuclear TIP60 was even higher when they singled-out aggressive cancers and early cancers - suggesting that this is an early event in breast cancer development.

The Sherpa Says: Personalized medicine is coming and in many cases it is already here. This is an example of tumor tissue sampling to analyze outcomes. What is truly needed is a tissue bank that can put phenotype with genotype. Then we can have an excellent expression array analysis combined with phenotypic markers. This is the best way to put together personalized oncology. Trust me it is coming. Soon.....

The Sherpa Silenced

I know that it has been a long time since my last post. During this time I have been interviewing geneticists, networking with some major league all stars in the fields of nutrigenomics, personalized medicine and pharmacogenomics. So I ask for all of your forgiveness.

First let me state that it has been a great little breather that has got me re-invigorated to keep up the work of a Gene Sherpa.

Second, let me tell you how great it is to live in an age where the work which giants in the fields of medicine and genetics can now be applied broadly to medicine. But, with that benefit comes the danger of charlatans and hucksters.

This is why we need more Gene Sherpas. I am now putting out a plea to all of those who wish to harness genetics for health and longevity, those who wish to have science behind their clinical decision making, those who have a keen business sense and the ethics to make you shudder when you see what is being sold, those who wish to learn more about the future of genetic and medicine.....please email me and we will collaborate and create wonderful things to protect our patients, friend and families from the onslaught of false claims, dummied up studies and infomercials which will soon spring up all over the place.

Lastly I would like to direct your attention to the Institute of Medicine's (IOM) Report called "Nutrigenomics and Beyond: Informing the Future-Workshop Summary" I have spent a significant amount of my time reviewing it and trying to glean what it spells out.

A little about the IOM. It was establish in 1970 to attract elite physicians and scientists to examine national policies regarding health of the public. It issues statements all the time including those on direct to consumer testing.

The report summarized states that the science is not quite there....In addition there is much hype but also much hope. Dr Fineberg, President of the IOM closes with this statement.

"IS it possible that over time we can identify what ultimately must be the common biological pathways through which all determinants of disease or health must ultimately exercise their effect?.......Is it not possible that nutrition science -bridging as it does, everything from human behaviour, cultural values, all the way through to nutrigenomics and metabolomics and so on--might not be the crossroads for such a grand unification theory for health and disease"

The Sherpa Says: Once again, Nutrigenomics is not ready for prime time, otherwise Dr Fineberg would have said "Nutrition science is the grand unification theory" Another scientist stated that "Nutrigenomics is a in a very fragile paradigm...there are very few success stories" So please, tread lightly when someone sells you a diet based on blood type, body shape, or genetics......

Send in the Clowns......

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

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

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

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

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

Loaded for Bear

Just wanted to give a shout out to David Hamilton from Venture Beat who wrote about Navigenics a while ago. To me whether 23andMe has a competitor or not does not matter. All that it sounds like is another non-clinical company trying to be clinical..........

From his article

"In other words, Navigenics essentially intends to get people to have their genomes scanned in a rough-and-ready fashion — in other words, they’ll scan your genes with chips that look for single-letter variations in the genetic code, instead of laboriously reading it out letter by letter — and then to match up what they find with the latest information on the diseases to which your genes might predispose you. Navigenics so far seems focused on the question of what your genes might say about disease, whereas 23andMe is apparently also interested in helping people trace their genealogy and creating social networks where they can compare and contrast their genetics."

And my favorite quote: "At the very least, though, it’s clear Navigenics has come loaded for bear. In addition to the blue-chip VC backing......"

The thing my mother always taught me.......the more money you need to market and sell something, the more likely it is that people don't need it........


Thoughts?????

Check out my colleague Ogan Gurel MD Mphil

I am sitting on the Phone with the good doctor Ogan Gurel. He is an excellent blogger that always never ceases to amaze me with his posts.

From his site

"Ogan is chairman of the Aesis Group which provides consulting services in the life sciences and healthcare sectors to clients that have included biopharma/medtech companies, hospitals & health systems, private equity firms, venture capital groups and hedge funds. As a healthcare technology expert and futurist, he has been a frequent conference speaker worldwide, addressing the issue of emerging technologies and their impact on the future of healthcare with particular focus on convergent medical technologies"

He was interviewed by INTimeTV. It is an excellent example of how we often forget that there is more than genomics is personalized medicine. Let's face it.......as each day passes, so do the old technologies in how we treat medicine. Unfortunately, your PMD is not keeping up with these changes. How can they? They are too busy fighting insurance companies in order to get paid. But that's a story for a different day.

The Sherpa Says: The future is here, it just isn't evenly distributed......But Ogan has it all

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.