About Helix Health of Connecticut.

Well, I have been getting alot of questions regarding our personalized medical practice on Park Avenue in New York City. I have been reluctant to tell everyone, but I figure that I might as well let everyone in on our "secret"

My philosophy is the power of genomics should empower patients and providers. Together as a team we can prevent some horrible diseases and avoid some horrible adverse drug reactions. How do we do this? We take the skills from a multidisciplinary team and identify risk. We feel that the most powerful genomic tool out there is family history (Sorry Hsien). This has been validated over and over again in epidemiological studies.

In fact when Mike Leavitt indicate in his foreward of his Personalized Health Care report

"One part of the foundation for such a change is our rapidly growing understanding of the human genome and the processes it directs. We envision health care that could:

• predict our individual susceptibility to disease, based on genetic and other factors;
  



• provide more useful and person-specific tools for preventing disease, based on that knowledge of individual susceptibility;
  



• detect the onset of disease at the earliest moments, based on newly discovered chemical markers that arise from changes at the molecular level;
  



• preempt the progression of disease, as a result of early detection; and
  



• target medicines and dosages more precisely and safely to each patient, on the basis of genetic and other personal factors in individual response to drugs. "

I thought he had read our business plan. But then I realized, anyone with an insider view would have to conclude the same thing. This IS personalized medicine. I think that the fields we will see explode are services which Helix Health of Connecticut is offering.

The problem I have always had with academic genetics is 3-fold.

1. Most geneticists are pediatricians (8 in 10) and have not been trained in adult chronic diseases or even used most medications that are intended for adults.
   
2. Traditional genetic care offered in the "Ivory Towers" is diagnose and adios. They have no desire to offer close follow up. In fact, in the time that I worked at an academic center we did very little to recontact those difficult clinical genetics cases. Only metabolic patients get the close follow up needed.


3. There is NO privacy at a big center. In most places you are pushed through like a means to an end.
   

The last problem I have with traditional genetics lies in how we acquire medical information.

In a clinical genetics appointment of 45 min to 1 hour you get a fam hx from the genetic counseling student which takes 20 minutes, they attempt to take a medical history (despite having no medical training), they then present to an attending or fellow (10-20min), who then comes in a confirms the information. Now with 15-20 minutes the attending has to explain complex genetics and inheritance to you, send off subtelomeric, CGH, karyotype, genetic tests, etc. And you get ONE follow up appointment and may wait 6 months for another appointment.

In a cancer genetic situation you do have more time. Perhaps if your counselor is good, you get adequate follow up and acquisition of information. You may be seeing a geneticist (Who has not trained in adult oncology) or you may be seeing an oncologist (Who never trained in genetics) If you even see a physician at all. This is not to knock my CGC friends. They have truly great talent and training, but learning what to do with your Plavix is not one of them. In fact our head counselor said "When I took a family history and it looked like there was early heart disease I said to myself 'I know something is there, but what do WE do about it?' Therefore the problem lies in the training or perhaps in the team.....

And please do not get me started with the Chop Shop known as "prenatal genetics/high risk OB clinic" Where the standard is to get as many people as possible into and out of the counselors office and the into and out of the amnio as quickly as possible. Where is the CARE in that? Is there any PRE-Conception care out there? There is at Helix Health of Connecticut!

What kind of medical informatics system is employed at most academic centers? Archaic at best in most. At least where I and my partners have been. When even the highest powered EMRs cannot distinguish between maternal or paternal lineage, then you have a problem. We have developed our own.....

Lastly, where is pharmacogenomics? Where is chronic disease risk stratification? Oh I forgot, geneticists don't do this, nor is there training for this in classical genetics fellowships.
All of this and more is available in my vision of what personalized medicine should be. Helix Health of Connecticut is Personalized Medicine for the 21st Century(TM)

The Sherpa Says: Helix Health of Connecticut of CT is my dream, my vision and the tip of the personalized medicine spear. I know this may seem like an advertisement, it is not. It is the road map which all personalized medicine practices should follow. When you take Prediction, Prevention and Privacy to the highest standards of care, you are bound to succeed.

Genetic Disease? Isn't she too Old for that?

You know, it never seems to amaze me. I received a phone call from my friend at a very solid academic training program in internal medicine. He said that he saw a patient the other day who had an unusually low Good and Bad Cholesterol, a high triglyceride level and a big liver.

While he was in morning report (This is where doctors present the patients they admit from the night before) he presented this young lady. She was a 30 something year old woman who had a cholesterol level that was off the wall. Normally a premenopausal woman would have an HDL of 50 or 60, maybe even 70. Her LDL (bad cholesterol) would be perhaps 100. If she had familial hypercholesterol levels perhaps even as high as 200. But what he found was just the opposite.

Her good cholesterol was less than 10, her bad cholesterol was 12. Why ever would she have such low cholesterol? Now this is where it gets interesting. He told the "Professors" that he was concerned his patient may have a condition called Tangier's disease, a genetic disease. What ensued was scary. All of these skilled physicians said: "A genetic disease? Isn't she much too old for that?"

Ladies and Gentlemen, this is the current state of medicine. Tangier's disease presents in the 30s and 40s with renal failure, heart attack, stroke. Why? Because it is never detected until it is too late. Even more scary is the fact that a 30 year old woman would not have an internist nor would she have ever had her cholesterol checked!!! But if you read a prior post of mine, it really should be no surprise at all.

The Sherpa Says: It is a new century, we will soon have genome sequencing for less than 1000 USD, and we are not teaching our residents properly. Why? Because the teachers were never taught. In a world where there are less than 100 geneticists trained in adult medicine how will we ever teach our future doctors? What good is you genome if your doctors think it only applies to children? Lastly, There are 7 days left to vote. How much will you pay for your genome.

Can you fix the typos????

The Sherpa would like to thank all of the readers who have tolerated the foray into mobile blogging that I have undertaken. I have had a few posts which have been hard to read as well as full of typos. Lately given my schedule I have had little time to revise these. I will take more time from now on I promise.

Now Back to some interesting stuff!!! Recently in The Journal of the American Medical Association a study was published linking Coronary Artery Disease and Colorectal Cancer. Why am I, a gene guy, posting this study? Several reasons, but first let me talk about the study. Patients in Hong Kong were recruited for screening colonoscopy after cardiac catheterization (a procedure where they look for disease in your heart blood vessels.)

Right there I think I several confounders. Aspirin can reduce colon cancer occurrence in some types of patients, Statins (Lipitor et al) have been portrayed by pharma companies to prevent cancers (Although the Sherpa thinks the opposite....) in addition what about prior colon disease????? All of these things were controlled for. But what wasn't? Family History of colon cancer, it wasn't even checked.

That being said, the results are interesting simply because there have been smaller studies linking and refuting the link between CAD and Colon Cancer. In this very large study where they controlled for several factors in this chinese population, the Odds Ratio of Colon Neoplasm and CAD was 1.88 more worrisome, if you had Colon lesion and you have CAD your OR for an advanced lesion is 2.51 YIKES!!!!

Now the real question......Why? The authors identify inflammation as the culprit. Inflammation is known to be a risk factor for CAD as well as Colorectal Carcinoma. Perhaps these hyperinflammatory people are getting hit with both. Well, I would say that is pretty reductionist. What I would like to propose.....Every person who enters any study in the US or even any country, Everyone gets their DNA sample taken. We knock down the barriers to getting this information and then we really find out what's going on in these susceptible persons.

That's why the Broad Institute has started this amazing project called the Connectivity Map. What is a connectivity map? It connects the dots by analyzing gene expression patterns. Led by Todd Golub, this team is pretty amazing. MedGadget posted on it last year. I am surprised it hasn't gotten more play. Maybe this will help us find out what's going on with ASA and heart attack or even colorectal cancer.....

The Sherpa Says: I am curious to know what all of you think about getting to: knowing what's wrong, why it's wrong, why the medication to treat it works, and who it works for. I know for one that I am

Want Longevity? Quit smoking and eat less.....

Yes, quitting smoking and eating less can help you. But it turns out some people will have an easier time doing these things. Also of note we begin to prove Murphy's Hypothesis (There is no such thing as a mongenic disease) These recent genetic studies caught my eye last week.

The first of this is sentinel study (Warning, all sentinel studies require replication)
This study reveals that patients with changes in the Cytochrome P450 enzyme 2B6. It turns out that"individuals with the CYP2B6 6 allele of the gene benefited from bupropion treatment and maintained abstinence longer while doing poorly on placebo, with a 32.5% abstinent rate vs. 14.3%, respectively. In contrast, those in the CYP2B6 1 group did well on both bupropion and placebo, with similar abstinence rates at the end of treatment and after a six month follow-up"

True that we do need some replication on this one, but there does seem to be other literature indicating this trend and other polymorphisms in Dopamine Receptors as well.

In addition to this one an article came out in AJHG this week. I want everyone to give up these words "MonoGenic Disease" Why? There is no such thing as a monogenic disease, unless you only have ONE GENE in your body. An example of this dichotomy is seen in the MONOGENIC DISEASE Hemochromatosis (Which BTW is not monogenic)

Unfortunately most Hemochromatosis is caused by mutations in HFE, but despite this testing, there are still people with Iron Overload who do not have HFE mutations. This is why I am not an advocate of HFE screening or even DTC testing of HFE. Even crazier, different people with hemochromatosis present differently. Why? Because there is no such thing as a MONOGENIC disease!!! In the AJHG this week an article shows that common variants in 3 other genes affect the penetrance of hemochromatosis. These genes are BMP2, BMP4, and HJV.
Serum ferritin levels were all affected by these common SNPs.There was even some indication of synergy between genes. To translate-Hemochromatosis is a multigenic disease, which primarily has problems in the HFE gene. So now is that clear as mud? The point....Don't expect a DTC test for hemochromatosis to tell you 1)If you will have Iron Overload 2)How bad your disease will be.

Finally, before you fall asleep or your heads explode, I want to chat about longevity. Some people think longevity can be bought with hormones, others with vitamins and Nutraceuticals (actually there is better data here). One big group thinks that all we have to do is stop eating.

This starvation group has recently been vindicated by studies on a family of genes called Sirtuins. A recent review was written in the Annals of Medicine. But just a couple of days ago an article in Cell the guys from Harvard Path publish on the role these genes play. Warning. This is a science heavy paper and the clinician may not find it useful at all....Dr Hsien Lei actually posted on this article as well. I see this as a potential windfall for companies looking to create Sirtuin activating cereals..........

The Sherpa Says: Gene Genie is up at Neurophilosophy so check it out! I am tuning up to host the next! We have along road ahead of us.....I like the way we are headed. However, there are some big bumps and changes coming up. Let's all keep our eyes on the prize...Truly Personalized Medicine

Scientists and The Sherpa Urge Caution

According to a recent post at Medical News Today a new article will be published in Science urging caution with the availability of genomic sequencing. I have commented on it several times and now feel like we are beating a dead horse.

Listen, if you want your genome to help you decide what clothes to wear, or perfume, or as a trophy. Then go out and get one. I will never stop you from getting your genome as a novelty. But if you want to use your WHOLE genome to make healthcare decisions.......... Well, you better get a second opinion. The only genetic testing that will work for healthcare has nothing to do with whole genome analysis.......for now. So why get your genome? Because, if you get it once you never have to do it again? Well, you saw how that worked out for the iPHONE right?

On a lighter note, as I sit here in the ICU taking care of really sick people I am left to think....What if we could prevent chronic diseases? These are the diseases which once end-stage put you in the ICU. Where I now sit taking care of end stage heart and kidney disease. That is where the power of the genome lies.....in prevention.

The Sherpa Says: Early adopters are wonderful. The world would not advance if it weren't for those who challenged conventional wisdom. But when it comes to human life........well, I am not ready to "crack a few eggs"

Just saw the BRACanalysis Ad on ABC 7

First off, please vote on my site. "How Much Would You Pay For Your Genome!

For those of you who live in the Greater New York Metropolitan Area. You are in for a treat! I just saw the confusing, puzzle like ad for BRACanalysis (The BRCA tests by Myriad)

Do you remember those tile shifting puzzles where you have to move all the pieces the right way to get a clear picture. This is actually a perfect metaphor for this ad. It shows women of every race and age all in blocks. The boxes look exactly like the aforementioned puzzle.

Each woman says a different thing and they all blend together. From "My mother has breast cancer" to "my father's sister has breast cancer" they make it seem that all breast cancer can be detected by this test. The commercial states BRACanalysis B. R. A. C. "Be Ready Against Cancer" Too bad they don't give their aunt's age, and no one says "everyone in my family has breast cancer" This ad portrays sporadic breast cancer as an indication for BRCA screening.

This paper describes the past ad campaign. My gut says this is the same as before. Guerrilla marketing does state that you do have to be consistent and have commitment to be successful. SO IF AT FIRST YOU DON"T SUCCEED.......

This type of advertising creates an opt-in, directing you to the website BRACnow which is actually a pretty useful site. The problem I have is when you are searching for a provider. They list several physicians who have not had cancer genetics training. Which is ok.....if you have a NEGATIVE test. But what if you have a Variant? Also my question is....... why are there so few genetics providers in the Tri-State Area? I know my group at Helix Health of Connecticut can do these services, but where are the other providers?????

The Sherpa Says: Here it comes New York.....I hope you are ready. Too bad most NYC genetics providers are booked for 6 months in advance......

Thank You

Today I received a phone call that made my month. One of my wonderful readers called and said "I love reading the Sherpa everyday! You have some way of fitting in really interesting and insightful information that I don't get anywhere else. Trust me, I am on the Internet all the time. No one has this stuff but you! So keep it up Sherpa!"

Let me tell you a little bit about the Sherpa and his (my) day. I usually get up around five am. I hit the snooze button but it never seems to work. Mainly because my daughter has decided to get up as well. I get the baby, change the diapers and turn on the computer. These days I turn on the Treo 700wx as well. I see what emails have transpired while I was sleeping and I get an invoice from my employees overseas.

My S.O. heads to work and I am left alone with my extremely vigorous child. I feed her the bottle while checking the DNANetwork as well as turn on the "news" (what I mean here is the propaganda machine run by PR specialists)

I usually field 2 to 3 phone calls in the morning from my residents. They tell me about how things went overnight in the hospital. Then I hit the shower (yes, even Sherpa's shower)

When I get out, my RSS feeder has finished updating and my daughter has had enough of the PnP (pack and play).

I feed my lovely daughter her bottle and scan the RSS while she is eating, making notes on my Treo. I then take a 5 minute break to give her TOTAL attention. It's 7:15 am, then the phone rings, it is the sitter. I buzz her in (Thank God)

Then the day begins.....I won't share more here. But let me tell you, that part of the day has been a breeze so far.

So I want to thank all of you who read the Sherpa. I appreciate all of your time and attention. Today I want to put something out there for your digestion. AlterNet has posted on something that had worried for sometime (see here). I don't mean to upset the well intentioned people at Google (They are ALWAYS the biggest viewers of The Sherpa according to feedburner) but there are some significant concerns that medical professionals have. Now it is getting some significant play.

Google has been in the info gathering game and has been doing it very well. Unfortunately HIPAA came along and I think the guys in Mountain View have bit off more than they can chew. Do you have any idea how expensive EMRs are? I chalk it up to the HIPAA and billing code abilities that an EMR must possess. Privacy is a big issue even if GINA passes (which it will). GINA does not cover life insurance, secondary schools, potential mates.....etc

The Sherpa Says: I thank you all for listening to my morning. I hope you find as much enjoyment in reading the Sherpa as I do posting it. As for private information moving out of your control, whether you are a utilitarian or an autonomist you have to admit there is something fishy to this type of power grab.