For Personalized Medicine CPMC is the Gold Standard Study

Ok,

So I just wrapped up a meeting with some, well, nearly all of the most brilliant minds in Pharmacogenomics. Where was I? Yes, on the cover of USA Today's life section.....But where was I really?

Conference? No.

VC event? No.

I was at the Coriell Personalized Medicine Collaborative (CPMC) Pharmacogenomics Advisory Group meeting.

Yes, that sleepy 'Ol Cell Line joint in Camden New Jersey.

I am certain you all know about the CPMC now. But in case you have been sleeping.

Coriell is climbing the mountain, gaining collaborators, building camps. They are essentially doing all the hard work of study analysis so that you don't have to.

Brilliant if you ask me.

Who in the world has the time or money to cull data, looking for important findings?

Google funded "projects", Academic Programs and Not For Profits.

Who do you trust to give you unbiased reports?

NFPs.

Who is the NFP here? Coriell.

Are you curious what the CPMC does?

Why will CPMC win this battle? Even 23andSerge agree that CPMC is the gold standard

1. They have independent advisors and scientists

2. They have nearly all the best independent advisors and scientists

3. They have the support of the government, the community and oh yeah, the FDA isn't investigating them......

4. They have Mike Christman.

5. They have a team who believe in this moral imperative, not a pay check or stock options.

I vowed never to post what transpires at these meetings, but rest assured, it was truly academic heated debate with egos left at the door. This is precisely what you want when someone is going to tell you what your genetic material means for you.

The Sherpa Says: Coriell is on to something here. Something so valuable when the 1000 genomes and the rest of the genomes go public. Someone has to make sense of it all and study what it means......I am proud to be a part of it.

Tell Me, How do you feel now? Sherpa's RX

One thing is for sure. In a recent poll of members of the AMA, granted a pretty skewed poll as tons of AMA members cut up their cards this year........random sample of 6000 physicians from the American Medical Association (AMA) Physician Masterfile, which includes current data on all U.S. physicians.

Excluded were, residents and doctors in US territories. From this data in the New England Journal of Medicine, Keyhani et al found some interesting things. The biggest of these is that a majority of physicians are for a governmental option WITH private options.

Not a surprise, this is what ALREADY EXISTS.

From the study......

"Survey respondents were asked to indicate which of three options for expanding health insurance coverage they would most strongly support:
1. public and private options, providing people younger than 65 years of age the choice of enrolling in a new public health insurance plan (like Medicare) or in private plans

2. private options only, providing people with tax credits or subsidies, if they have low income, to buy private insurance coverage, without creating a new public plan.

3. a public option only, eliminating private insurance and covering everyone through a single public plan like Medicare.

We also assessed the level of physician support for a proposal that would enable adults between the ages of 55 and 64 years to buy into the current Medicare program — a strategy that the Senate Finance Committee has proposed."

But what pisses me off about the article is how it is written....take a listen....

"Physicians in every census region showed majority support for a public option, with percentages in favor ranging from 58.9% in the South to 69.7% in the Northeast. Practice owners were less likely than nonowners to support a public option (59.7% vs. 67.1%, P<0.001),>majority still supported it."

No caveats for the fact that DOCTORS ONLY SUPPORT A PUBLIC OPTION IFF there exists a private industry as well.

What these jokers don't say is precisely that point. Which is why, the press will publish "A majority of doctors support a Public Plan" which may sound like they support single payer.....

They don't. In fact, 3 times as many support a private only plan than a public only plan!!!!

They do acknowledge limitations

"Some limitations of our study deserve comment. First, our response rate was 43.2%, which is modest, though typical of the most recent national physician surveys and surveys in general.

There were no significant differences between survey respondents and nonrespondents in important characteristics, such as specialty, practice location, and practice type.

Second, physicians’ opinions about strategies for expanding health insurance coverage may have evolved during the period of data collection, given the intensive press coverage of the issues."

But in the end, they never, ever mention the fact that a near THIRD of physicians support a private ONLY system and that this number is 3 times the physicians who support a government ONLY plan like Canada or the UK. Thus placing those progressives who demand such, clearly outside of the mainstream of most physicians.....

The only true way to save costs is to start using science and personalized medicine. You will not save costs by covering more people. In fact, I argue that there is no science which truly extols the benefit of enhanced coverage. What should be enhanced is catastrophic coverage.

What bankrupts people? Catastrophe, not a URI.

If you want to nationalize/universalize coverage, stick with catastrophic care. That would make sure everyone was covered when HUGE bills hit.

I am certain this plan would be extremely useful. Enroll everyone in this system and pay out when catastrophe strikes. It works for life insurance. Leave the small time players alone and focus on hospitalization costs, etc.

Continue funding HPSA and increase the loan repayment to 300k over 3 years rather than 85 over 3 years. Watch the doctors come then.......

Give tax subsidies for people who pay for URIs etc or traditional health insurance, which now should cost less as the government/taxpayer absorbs the catastrophic costs.........

That should keep everyone covered and help out with the uninsured. We all know that the major cost to hopsitals is the "self pay" patient with disseminated echinococcus or HIV or esophageal cancer or heart attack.

As for the government and medicare, if you just had a huge boost in revenue by new people coming on board for catastrophic care (To be read as, not pay out for most, and pay out later for some) you could help that insolvency thingy........

The Sherpa Says: Personalized Medicine is a key, rational thinking is the LOCK! I know, my wife just had an ER visit, the hospital charged 6168.00 USD, the insurance paid 800 USD. If she didn't have an insurer protecting her from gouging, she would have had to pay 6168.00 USD. I see it both ways....

Why SB482 is bust. I am amazed by smart people.

If any of you were on the receiving end of my email blast, bear with me. I have a few points to make this morning. A coupla weeks ago, June 24th to be precise.......23andSergey reposted a tweet which really got my attention......


The original tweet was "@23andMe BTW, you saved me $25 for a CF test - used my and spouse's 23 results instead. Thx!"

The user is a really super smart CEO of a company.

After Daniel MacArthur and I protested, 23andSergey pulled down the post........Normally not a big deal, but then came a tweet for me which really had me even further convinced of some issues with DTC

"@hh Really, how so? Our fertility doc says "either of you been tested as a carrier of CF?", yes, both know status via our @23andme."

Do they really know?

No. Truth be told, the delta508 mutation is not exactly the gold standard for carrier screening.....and what the hell? Carrier screening? Isn't that medicine?

Which brings me right down to it........State Bill 482 in essence says that these DTC genomics companies aren't really doing testing. They are only applying a mathematical algorithm to determine risk...........

Could you please tell me what algorithm is used to say you are or you are not a delta508 carrier in the CFTR gene?

Here's another question.

What algorithm are you using to tell people whether or not they have Ashkenazi Jewish Founder Mutations in BRCA genes?

The answer is, they are speaking out of both sides of their mouth. These companies are intellectually dishonest and are looking to pull a fast one here.......and their lack of care for customer or patient safety and health is amazing.

When they pulled that CF retweet, did they post a tweet which says "23andSergey services are not to be used for medicine, and carrier screening is part of medicine"
The short answer.

No.

The long answer, why turn away a customer base who is inferring that it can be used?

I was quoted at the bottom of a San Jose Mercury News article the other day I am an Internist BTW.......

But my point is this, in the world of scandal in politics and lack of transparency, shouldn't we be asking why a company who wants to do this research revolution but won't have an IRB, a company who wants to "Be regulated" buyt by their own rules, a company who has deep ties to a company whose bailiwick is data mining and archiving, a company who performs medical type tests and infers that they can be used as such (despite the fine print)......shouldn't they be held to some sort of standard here?

Are we in the field of genetics so desperate for attention that we let these companies slide in their own laws and their own rules? Do all ships really rise with the tide? We need to ask ourselves here, is this sort of quick shiftiness and legal manipulation ok for the field of genetics?

What sort of trust does it inspire to know that the laws regulating companies were written by the companies. Less than 10% of all congressmen and senators were ever doctors (for my curious detractors).

Why does the medical field come under fire? Lack of trust. Do we really want another chink in our armour?

Does the entire field of genetics and its amazing discoveries want in its midst a company who is willing to manipulate data, lawmakers and ethics to survive?

What does that say about the field? How desperate are we?

What does accepting them say about us?????

Prasugrel saves Clopidogrel???

You gotta love it. The other day I was talking to a pharma rep, yes I do speak with them.....and they were all excited about Effient (generic name Prasugrel).

What are these medications and why was the Pharma Rep excited?

Well, you see Plavix(generic name Clopidogrel) which is one of the top 3 selling medications in the world is given to people who have had a stroke or heart attack. This medication is given to prevent another heart attack or stroke......

Also, this medication is given to people who have received stents in their coronary arteries. This is to prevent the stents from clogging up with platelets.......sort of a Drano in a pill so to speak.

It is also given to people who are having an acute heart attack.

These 2 medications are blood thinners. How do these thinners work? They block platelets, in a way similar (but not the same) as Aspirin.

Why was the Pharma Rep excited?

1) Prasugrel is just about ready to be FDA approved for use

2) Prasugrel has a study called Triton-TIMI 38 which shows it is better than Clopidogrel with outcomes

3) 2 studies just came out last month in the New England Journal of Medicine and one in the British Journal Lancet which show that up to 1 in 3 people taking Clopidogrel(Plavix) may have little to no effect from the medication and are at 300 times more risk for ANOTHER heart attack, stroke, or stent clogging by platelets.......And another one this month in the European Heart Journal!!

4) Another study came out showing that Plavix has no effect in patients who are on proton pump inhibitors. Drug Drug interactions are a big deal.....

Why is number 3 a BIG deal? Because it is a polymorphism in CYP 2C19 which reduces proper conversion of Plavix to its active form.

This IS PERSONALIZED MEDICINE!!!!!

We can test patients, avoid a medication or perhaps increase a dose according to genotype and ultimately change the risks of being a poor metabolizer......

Why am I not so HOOO RAAAHHHH for Prasugrel?

Guess what? Prasugrel ALSO requires conversion like Plavix..........it just uses another CYP enzyme.....

What's that you say? Maybe that enzyme isn't screwed up in 1 in 3 people.....

But it is at least present in 7-10% of certain populations and as high as 83% of African Americans!!! I think 83% is pretty high.....what one in three? 33%?

Well, that enzyme is CYP 3A4. Does that sound familiar to anyone? CYP 3A4 is required for some STATINs to be metabolized as well as some immunosuppressants.......Oh and as for drug, drug interactions from CYP3A4 inhibitors....

Here's the list

amiodarone, amprenavir, cannabinoids, cimetadine, clarithromycin, clotrimazole, cyclosporin, delavirdine, diltiazem, ethinylestradiol, erythromycin, fluconazole, fluoxetine, fluvoxamine, indinavir, intraconazole, ketoconazole, metronidazole, mibefradil, miconazole, nefazodone, nelfinavir, nicardipine, norfloxacin, propafol, quinine, ritonavir, saquinavir, sertraline, troleandomycin, verapamil, zafirlukast

The ones that I bolded are medications I have prescribed in the last month......

Looks like we may have a teency Weency reason to be less exuberant......

Here's what I think. The same thing that they found with Plavix, will also be the case with Prasugrel.......

Which means.......We should stop dosing medications without knowing the patient's freaking genotype.....what the hell is wrong with these knuckleheads!!!!!!

The Sherpa Says: If Lilly was wise, they would release these "trade secrets" and let us know how many of their patients in the private trials failed therapy and were CYP3A4 poor metabolizers.....Now OFF to the PMC Clinical Science Committe meeting!

Got TT? Stay away from "water pills"

In case you missed it. In the Journal of the American Medical Association a large retrospective analysis of the ALLHAT trial was done. What is the ALLHAT trial? It was an analysis of high blood pressure, treatments and outcomes. In the land of what us physician folk call Landmark Studies, this is a big study.

ALLHAT was a randomized, double-blind, multicenter clinical trial (623 clinical centers) with 42 418 hypertensive participants aged 55 years or older who had 1 or more additional risk factors for cardiovascular disease. ALLHAT was designed to determine if the incidence of fatal coronary heart disease (CHD) and nonfatal myocardial infarction in high-risk hypertensive patients was lower with treatment using each of 3 antihypertensive drug classes: a calcium channel blocker (amlodipine), an ACE inhibitor (lisinopril), and an -adrenergic blocker (doxazosin) compared with treatment using a diuretic (chlorthalidone).

The posthoc analysis using genotypes was performed from 2004-2005. The results are just being published now. What did they genotype?

GenHAT genotyped variants in several hypertension-related genes in 39 114 ALLHAT participants with available DNA, making the study design a post hoc subgroup analysis of a randomized clinical trial. The goal of GenHAT was to understand gene-treatment interactions on CVD outcomes and blood pressure lowering.... There were 38 462 participants with data available for at least 1 variant.

The variant of interest is a gene called NPPA. Studies in animal models have shown that animals which have "minor alleles" for this gene end up with salt provoked hypertension. In addition and possibly more importantly, these patients showed higher risk of horrible disease such as stroke or heart attack.

I will not get into the physiology of high blood pressure today. But suffice it to say that there are several ways to lower the pressure in our arteries. Think of arteries like garden hoses. If there is alot of water in the hose, the pressure is up. If I take that same hose and that same amount of water, then I squeeze the hose. Guess what? The pressure goes up. So if I can lower the amount of water in the hose or dilate the hose to a bigger size, then I can lower the pressure. The "water pill" chlorthalidone removes water, the amlodipine dilates the hose. The Ace-inhibitor removes water indirectly.

Here's where we get a Landmark result for Personalized Medicine:
The NPPA T2238C variant was associated with modification of antihypertensive medication effects on cardiovascular disease and BP. Minor C allele carriers experienced more favorable cardiovascular disease outcomes when randomized to receive a diuretic, whereas TT allele carriers had more favorable outcomes when randomized to receive a calcium channel blocker.

What the hell does this mean? If you carry the TT pair of this NPPA gene, you shouldn't take the diuretic. Unless you want to have a higher risk of stroke.

The Sherpa Says: Despite being a modest elevation in risk, 126%. It is certainly easy enough to change a person's medications to avoid poor outcomes. This is what Personalized Medicine IS. The right diagnosis leading to the right drug for the right person. This is what we do at my offices. Does this come on the Illumina gene chips? SNP database ID rs5065. To my firend Brandon, check this one out!

2008 Here We Come!!!

After some time off thinking about where Personalized Medicine has been headed and where it could go I have come up with some simple conclusions. But first I want refer all of you to my interview with Bertalan Mesko over at ScienceRoll. Bertalan will be headed over to the US and working with me to educate physicians on Medicine 2.0

Why do I refer you to the interview? Because I breakdown molecularly personalized medical services into several categories. There is much confusion as to the term Personalized Medicine. In fact, Helix Health of Connecticut's marketing team has told us based upon their research that some even mistake this field for concierge medicine!!

This article recently released in the New England Journal of Medicine speaks for what I called Personalized Genetics. For those of you who don't know, in 2006 the nobel prize in medicine and physiology was awarded for the discovery of RNA regulation of protein synthesis. This study is a neat expression of this unique technology. By identifying patients with a "Genetic Disorder" (What disease isn't genetic?) researchers have created a new piece of nucleic acid that will actually tell the machinery in the cell to do something other than it was coded to do.

Say Wha? Ok. Muscular Dystrophy is caused by absence of a certain protein called Dystrophin. If muscle cells can't make this protein, then they cannot function. Children often are wheelchair bound before 10. Why can't they make the protein? Usually, the gene which codes for the protein is defective. Its defect causes the gene to protein machinery to stop making the protein very early in its production. This results in a non-functioning protein. This new product PRO051 tells the machinery to pay no attention to the defect. Instead the machinery keeps going and creates a semi-functional protein.

So why is this Personalized? Well, not all people with Duchenne's have the defect required for this medicine to work. But unlike with Lipitor where the therapeutic success rate is anywhere between 40-50%, PRO051 will be effective in approximately 70% of people. Why? 70% of persons with Muscular Dystrophy have the needed mutation. In people with high cholesterol there are multiple different genetic changes as well as environment. But imagine when we can say "You have high cholesterol because of these genes and this environmental exposure. We will cut out this exposure and tweak these genes just a little bit." Voila, No more Lipitor!

Personalized Genetics could become Personalized Medicine...but not yet. I think this author from the NEJM has read my interview too..

"Personalized molecular medicine." As with other catchy terms for big ideas, such as "reversing global warming" and "renewable energy," the concept of personalized molecular medicine is certainly important, but the path to achieving it is far from clear. When such phrases are considered, definitions are important.

Does personalized molecular medicine mean the tailoring of drugs for the individual patient, an approach that evokes images of Bones on Star Trek making instantaneous diagnoses with his Tricorder followed by loud pneumatic injections of customized drugs? Such a concept would place the realization of this technology in the same time frame as the achievement of "warp drive" that hurtled the Enterprise into new galaxies.
On the contrary, personalized molecular medicine appears to be at our doorstep.

Unfortunately, I don't think Dr. Hoffman is aware of Helix Health of Connecticut. Personalized Medicine is at your doorstep too.....

The Sherpa Says: The conclusions are coming. I think Yoda said it best "Patience" This year will require tremendous amounts of it. Francis Collins tells a joke "There is this woman who is married to a research geneticist. He keeps telling her how great their sex life WILL be." Thank you to a certain unnamed TV news series for thinking of me when covering Personal Genomics. I look forward to our discussions. Does anyone think the New Year's Ball looks like an AAV?

Genomics Into the New Year

What will the New Years bring genomics. Well, I have had my ear to the ground and have some ideas.

First the obvious
1. GINA will be passed by hitching a ride on another bill. How sad is that?
2. Navigenics will enter the fray and telemedicine will have a whole new face. What that face will look like is yet to be completely determined.
3. One of these companies will get sued

Next the less obvious
1. Academia will start to market personalized medicine
2. Helix Health of Connecticut will not be the only face to face private (non-Academic center) personalized medicine service...and they will be welcome friends. There are so many out there who need this.
3. Oprah will have her Genome sequenced ( I swear it will happen)...Obama too

Finally the inconceivable
1. Jim Watson will pass from this earth
2. A little unnamed startup will win the X-Prize
3. Mark Cuban will buy the rights to all of 23 and Me's genome database

The Sherpa Says:
To know the future we must look at the past. And if we fail to learn the mistakes from our past, we can always blame our genes. Or at least have the journalists tell us we can.

Delaware Reducing the Gap!

As I had talked about in prior posts Coriell has now officially launched the Delaware Personalized Medicine Project. For all of those genome seekers out there, I suggest that you check out this project.

Who is Coriell? Well in case you have never heard of the HapMap before today....

The Coriell Institute for Medical Research is an internationally known not-for-profit, basic biomedical research institution. The Institute's founder, Lewis L. Coriell, M.D., Ph.D., played a major role in bringing the Salk polio vaccine to the public by using cell cultures to study human viral diseases. The Coriell Institute was founded in 1953.

I initially had contact with the people from Coriell in 2005 at ASHG. This is an amazing group of dedicated individuals who are always carrying genetics forward. The Repositories at Coriell provided support to the Human Genome Project, a world-wide program to map the entire human genome, and to the International HapMap Project, a project to provide an efficient tool to identify disease causing genes.



The Delaware Valley Personalized Medicine Project© is a forward thinking, joint effort involving patient volunteers, physicians, scientists, ethicists and information technology experts whose goal is to better understand the coming impact of genome-informed medical practice and to guide its ethical, legal and responsible implementation.

The study will seek to discover presently unknown genes that elevate a patient's risk of cancer, heart disease and other complex diseases, to understand why patients often respond quite differently to treatments, and to explore how the resulting information can best be viewed and utilized by patients themselves and their physicians in a secure, user-friendly environment.

THIS IS THE MOST IMPORTANT PART!!!!!

All patient volunteers will control their genetic profiles and will be able to determine for themselves whether they wish the information to become part of their personal medical records in the future.



The First Volunteer? A South Jersey Congressman....Maybe they can find the "Crooked Politician Gene"......Just Kidding....sort of :)



The Sherpa Says:

This is exactly what the field of Personalized Medicine needs. Not some project hidden behind fancy marketing and a cool website....or 3 million dollars of seed capital. This project will allow you total control over your genetic information and that is precisely what the public needs. I feel sorry for those who paid to have their SNPs resold at a higher price.

I never realized

How a little blogpost can get investors excited. Since the Scienceroll and Now GTO posting I have been fielding a significant amount of calls regarding potential partners in Helix Health of Connecticut.

I have to admit, I am honored. But I also have to admit, I am surprised that these highly intelligent people never thought to call me before. I even do some consulting work for these groups, yet none asked about Helix Health of Connecticut.

Well, enough about me. What about personalized medicine? In case you missed it, Sequenom has been pushing the envelope lately. This new technology discussed here may remove the need for amnios....forever!

What is going on in November? Starting today, Burrill and Company has been discussing Personalized Medicine. I would love to hear from anyone who went to this conference! I am really sad that I missed this. I was planning on attending, but family came first :)

Harvard Partners Centers for Genetics and Genomics is hosting yet another conference "A Call to Action" is going to be held on November 29th. Lawrence Lesko, Mike Leavitt and Ralph Snyderman will be speaking. These are three speakers who have heard and loved. If you haven't this conference is a must!

This article from the Minnesota Star Tribune raises some questions and reminds us that not all support personalized medicine. We do have detractors. This is why we must not become a mutual admiration society. There is much work to be done to convince the public AND the health care field!

The Sherpa Says: Perceived competition is misperception. I think Berci has already pointed this out. We need to form partnerships to pilot this ship!

Wylie Coyote? No. Wylie Burke!

In the Journal of the American Medical Association this week an article by Dr Wylie Burke has surfaced. If you don't know who Dr Burke is, then you are in the dark when it comes to true "realism" about the genome and personalized medicine.

Dr. Wylie Burke is Professor and Chair of the Department of Medical History and Ethics at the University of Washington. She is also Principal Investigator of the University of Washington Center for Genomics and Healthcare Equality, an NIH-funded Center of Excellence in Ethical, Legal, and Social Implications (ELSI) Research. Her research addresses the social, ethical and policy implications of genetic information.

From the article:

"ENTHUSIASTIC PREDICTIONS ABOUT PERSONALIZED MEDICINE have surrounded the sequencing of the human genome. As commonly used, the term predicts a leap forward in disease prevention and drug treatment, based on knowledge of individual genetic susceptibilities."

This is true. The media as well as the corporate world have "promised" some outlandish things in this space.

"Nevertheless, claims of a new medical paradigm based on genomics merit careful scrutiny. The exhortation to prepare for a “genomics revolution” often assumes that genetic risk is different in kind from other health risks."

Well, Dr Burke.....I would say that genetic risk can at times be worse than other health risks, but not at all times. This requires a nuanced knowledge base and often can not be finessed by the public or even some physicians.

"Each new genetic test will need to be evaluated and assessed to demonstrate that the overall health benefits exceed the harms before it is implemented in practice. The fundamental
principle is that genetic risk information will be useful only if it guides more effective, or more cost effective, use of medical interventions than can be achieved without the risk information."

This is precisely in line with what we tell physicians. There is no need to go off testing everyone, without good data. There are some scientists who say that data is appropriate, but unless this is peer reviewed or applicable clinically, the claim is hooey.

Here's the part I love

Personalized medicine has always been a component of good medical practice. Genetic tests may provide new tools, but they do not change the fundamental goal of clinicians
to adapt available medical tests and technologies to the individual circumstance of their patients. As genetic tests become widely available, personalized medicine will include
assisting patients to make wise use of genetic risk assessment, taking into account the cautions discussed in this article. When genetic testing is used, the personalized nature
of the care will extend well beyond the patient’s base pair sequences.

The good Dr Burke is pointing to careful clinical care and continuity of care being key to personalized medicine. I agree that not all personalized medicine is genetic. That is why no report printed on a sheet of paper will achieve the goal of personalized medicine.

The Sherpa Says: When you read this article please keep in mind that Dr Burke is a geneticist!

Gene Genie and George's Blog

First....Gene Genie is up at Cancer Genetics. Thanks to Ramunas who put up an excellent edition!!

Second and even more importantly......My excellent Chief of Genetic Counseling brought George Church's blog to my attention. My gosh....

His evaluation is right on point. His question is a wonderful one...... Great now we have genomes....so what. How do we get to systems biology? Once we have systems biology on point, we will then have truly personalized medicine. We will be able to manipulate the systems....and physicians will become engineers, systems analysts....

So when will we get there? How will we get there? My gut says there are 25 different signalling systems and perhaps four different common pathways....these will corroborate with the 4 humours........ Welcome back Galen and great to see you again Hippocrates.

The Sherpa Says: Stick around for 2010 it's gonna be huge! I am a firm believer in systems biology. I feel that be understanding cellular signalling pathways, we will see the link between previously unrelated disease. For an example if this take a look at this NYT article.

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.

Oscar and Predictive, Personalized Death

I just had to post on this today. In the New England Journal of Medicine there was a brief article on an Uncanny ability by a unique cat.

From the article:

Oscar takes no notice of the woman and leaps up onto the bed. He surveys Mrs. T. She is clearly in the terminal phase of illness, and her breathing is labored. Oscar's examination is interrupted by a nurse, who walks in to ask the daughter whether Mrs. T. is uncomfortable and needs more morphine. The daughter shakes her head, and the nurse retreats. Oscar returns to his work. He sniffs the air, gives Mrs. T. one final look, then jumps off the bed and quickly leaves the room. Not today.

Making his way back up the hallway, Oscar arrives at Room 313. The door is open, and he proceeds inside. Mrs. K. is resting peacefully in her bed, her breathing steady but shallow. She is surrounded by photographs of her grandchildren and one from her wedding day. Despite these keepsakes, she is alone. Oscar jumps onto her bed and again sniffs the air. He pauses to consider the situation, and then turns around twice before curling up beside Mrs. K.

One hour passes. Oscar waits. A nurse walks into the room to check on her patient. She pauses to note Oscar's presence. Concerned, she hurriedly leaves the room and returns to her desk. She grabs Mrs. K.'s chart off the medical-records rack and begins to make phone calls.
Within a half hour the family starts to arrive. Chairs are brought into the room, where the relatives begin their vigil. The priest is called to deliver last rites. And still, Oscar has not budged, instead purring and gently nuzzling Mrs. K. A young grandson asks his mother, "What is the cat doing here?" The mother, fighting back tears, tells him, "He is here to help Grandma get to heaven." Thirty minutes later, Mrs. K. takes her last earthly breath. With this, Oscar sits up, looks around, then departs the room so quietly that the grieving family barely notices.

On his way back to the charting area, Oscar passes a plaque mounted on the wall. On it is engraved a commendation from a local hospice agency: "For his compassionate hospice care, this plaque is awarded to Oscar the Cat." Oscar takes a quick drink of water and returns to his desk to curl up for a long rest. His day's work is done. There will be no more deaths today, not in Room 310 or in any other room for that matter. After all, no one dies on the third floor unless Oscar pays a visit and stays awhile.

Note: Since he was adopted by staff members as a kitten, Oscar the Cat has had an uncanny ability to predict when residents are about to die. Thus far, he has presided over the deaths of more than 25 residents on the third floor of Steere House Nursing and Rehabilitation Center in Providence, Rhode Island. His mere presence at the bedside is viewed by physicians and nursing home staff as an almost absolute indicator of impending death, allowing staff members to adequately notify families. Oscar has also provided companionship to those who would otherwise have died alone. For his work, he is highly regarded by the physicians and staff at Steere House and by the families of the residents whom he serves.

The Sherpa Says: Perhaps this cat is just "sucking the breath" out of the patients.............

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.................

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.

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!!!!

Personalized Medicine since 1986???

First I would like to apologize for the lack of postings on interesting topics lately. I am glad that others have picked up my slack. Notably Hsien and Bertalan's interesting posts this week. Or for an in depth post on the politics of health care and the reform movement check out VentureBeat

What I want to pay attention to today is the question I inevitably get asked when I speak to other physicians. "Is what you say feasible in a 7 minute consult world?" The answer is inevitably NO. I do not feel in my heart of hearts that we will ever be able to practice personalized medicine in a 7 minute consult world.

What's needed is a Revolution. We need a place where the patient has access to their records and their physicians 24/7. We need a place where the patient is given the skills to understand and manage their disease. My friend's 12 year old son can quite effectively manage his diabetes, how come a 45 year old venture capitalist cannot? Support is the key and learning is the motion required to open the lock. How do we make these things easier? How can we get doctors to teach their patients? What ever happened to true continuity of care? These are big questions that need answers. I don't have them all. But I am working with some great people who will find those answers.....

So the next question is "How can we have the knowledge to practice these things?" I often tell physicians to go back to college or read a book on genetics. If you don't have the time to do that, then you will fail your patients. This often meets an uproar of disbelief......I am pretty good at pissing people off. Just ask Lisa Lee at DNADirect ;)

In all honesty, we need some clinics who offer personalized medicine consultations. These specialists need to guide care in collaboration with PMDs. I am building this model in NYC! We will be seeing patients in July. Give me a call and we can arrange to start the relationship.

But there has been someone doing this since 1986!!!! Wha??? The HGP was only 3 years in and they were providing these services. Yes that is correct. Greats such as David Rimoin and Maren Scheuner helped form and develop this practice. It goes by the "trademarked" name GenRISK Adult Genetics Program. It has been in practice since 1986 offering several tests that you can see on their site. I have been critical of predisposition tests unless clinically indicated. This is an example of how a personalized medicine practice can be run.

The Sherpa Says: Genomic and Personalized Medicine need to be given in a continuity of care. Family history changes, medical history changes. A one time consultation cannot deliver that kind of service. Oh and what about pharmacogenomics?

Not all drugs benefit all man!

While Bertalan Mesko at ScienceRoll is introducing us to the best medicine 2.0 tools, i am reviewing some results from the American Society of Clinical Oncology meeting last week.

In another example of how we need to examine patients pharmacogenomics prior to instituting therapy the SWOG (South Western Oncology Group) in the U.S. releases results of a collaborative effort with two clinical groups in Japan (Japan Multinational Trial Organization).

The researchers were interested in how these different groups metabolized certain chemotherapeutic agents Paclitaxel and Carboplatin. Now what is interesting about this study presented at the ASCO conference is the fact that they were able to isolate two gene polymorphisms responsible for these effects.

In patients with certain variations in the CYP3A4 gene, it took 2.75 times longer for their lung cancer to progress than in patients without the variations. A variation in another gene, ERCC2, appeared to interfere with how well patients responded to treatment.

The problems with this type of analysis are threefold.

1. The study was too small a size to not need replication


2. The study did not involve the genome of the tumors (Perhaps the DNA repair mechanisms in the Caucasian tumors were better. This would like to decreased cell death i.e. response to chemo. As with the tumors and ERCC1)


3. The dose of chemo was not controlled (although the lower dose worked better in the Japanese)

The Sherpa Says: In order to make useful sense of Personalized Oncology we must look at genomes of both the cancer and the person. I feel that we are introducing erroneous data to confuse us. I hope The Cancer Genome Atlas will show us some better data!

Watson, Francis.....and The SHERPA!!!!!

Remember how I said that June is going to be one heck of a ride? Well, what a way to kick it off. Yesterday I attended the "Personalized Medicine Revolution" at Brown University. My team drove 3 hours from NYC to Rhode Island to attend and trust me....It was worth it. I want to recap in some coherent and readable fashion so I will break it into 3 posts throughout the day.

Post 1 The Welcoming Remarks by Dean of Brown Medical School Eli Adashi and Rep. Patrick Kennedy.

I find it interesting that the introductory remarks are given by an REI specialist. Especially after what was disclosed to me.

"Future Pundit talks about the role of Preimplantation Genetic Diagnosis and its ever expanding uses. The specter of looks and intelligence for PGD rears its ugly head. Do I think this is a slippery slope, you bet. Especially when at the REI conference this April there were comments such as "We are the new geneticists" and "We determine mankind's fate" were heard by my Specialist friend. Yikes here comes Aldous........"

In addition, the lack of REI oversight in this country was addressed by Dr Thomas Murray PhD CEO of the Hastings Center . But I will save that for a later post. Dr Adashi did make a funny though. He showed a slide of Jim Watson receiving a copy of his genome on CD from Jonathan Rothberg. Dr Adashi said "I am happy to say I just received my copy from Netflix!" to the laughter of the crowd. Lastly he closed with a comparison many of us make. "Just like the microbiology revolution...........Genome based medicine is inevitable and It's here today."

Still, the welcome was warm and the stage was set for an exciting day of "Personalized Medicine!"

The next comments came from the sponsor of the conference, US Representative Patrick Kennedy. First I would like to say I have no political attachment to either party so what follows is merely my observations as a citizen of the United States.

At first it was difficult to understand his accent. Second it was tough to listen to his ummmms and uhhhhs. Thirdly he had a tendency to say "you know". But once I got past the "nerves/Billy Madison-isms" what he had to say was pretty amazing. Representative Kennedy is a huge ally in the fight for the right drug, for the right person, at the right dose. He went on to detail how proud of Rhode Island he was, he talked about his mental health initiatives and how personalized medicine will help those with mental illness. Frankly, I was very impressed with what support and knowledge came from his mouth.

Next post............Francis Collins and "Reports from the Front Lines of the Revolution!!!"

The Sherpa Says: Viva La Revolucion!