Maybe I am wrong...

So after talking with a pretty amazing reader today. I was brought to some interesting conclusions. The first of these.

1. Maybe Corporate Genomics is not so bad after all.
I know...after all this railing.....you must begin to say. "Is this Sherpa crazy?"
No, this is a critical assessment. What is the risk of using these services? Discrimination? Well, health insurance discrimination is a fallacy. Very few employers have discriminated genetically.
Changing a behavior to a more deleterious behavior? Well, the McD's fries might get eaten more often if you don't think you are going to get heart disease is a reality. Will this set of tea leaves be perceived as strongly as a physician's interpretation? Or will this get treated like it is......a suspect set of data. That is the real question. If the answer is that the public treats the computer the same as the trained professionals, then we will have true risk. This has not been proven yet. Nor has the benevolence of these companies. But I can't say guilty until proven innocent. Especially because I have 10 readers from Mountain View daily (on average)

2. Maybe Primary Care Physicians can learn to perform genetics
Huh? I know. I have data which states that it takes more than a year to learn these topics. But, I don't have data for year 2 yet. Maybe in year 2 we see a tremendous uptick in knowledge and skills. Maybe not. But, I cannot make sweeping claims without this data.

3. Maybe Google, Kleiner Perkins, Genentech, NEA are in this for the benefit of mankind.
Ok, now I am strecthing. But maybe they are? Google has been investing in earth-friendly companies, education companies....KP is investing in Personalized Medicine, We know how Genentech has revolutionized some parts of medicine.......

You see. Socrates is correct. We need to challenge that which is taken as fact.

The Sherpa Says: Doctor Oliver Wendell Holmes said "Man's mind stretched to a new idea, rarely takes it's original form" Maybe I am wrong.....Maybe I am not.....But you have to take both as possibilities.

A little Knome fact!

Well, after fighting to keep the name Helix Health of Connecticut. I have realized that just because you have a catchy name does not mean someone else doesn't have it too.

Thus is the case with Knome. I could ramble on about how whole genome sequencing is superior to the limited SNP analyses currently available. This superiority is very important for personalized medicine, but not quite important for a cocktail party. I could have posted some of the press release, but Hsien, Berci and the rest of the DNANetwork do a great job of covering this sort-of new entry to corporate genomics.

Instead, I wanted to focus on the fact that another Knome exists. In fact several Knomes exist. Some even have vice-presidents. Well it turns out Knome has been around a little while before this. In fact a company called Cambridge genomics has filed an application for trademark of the name Knome in August of this year. Smart, unfortunately I did the same thing and have met challenges. Well, they should be ok, so long as their aren't any other software apps out their with knome in their knome...oooops

The Sherpa Says: With the decreasing gene count, clearly the secrets in the genome lie in other places. These include copy number variation, methylation, and other epigenetic changes. You see, the genome is constantly in flux and change. This is why a genome without a solid knowledge set behind it is as useless as a map without a key. But it's just about as much as 2 Ferrari F430s. Living in Greenwich CT, believe me, I have seen my share of his and her Ferraris. Why not his and her genomes.....What a great Christmas present for the person who has everything else, including 17th Century Samurai Swords...p.s. Why hasn't anyone mentioned SmartGenetics yet?

Aetna and Informed Decisions

Amazing today I have had to make the time for a second post. I received an email from Heather L. Shappell, M.S., CGC. She is the founder and COO of Informed Medical Decisions, Inc. The newsworthy event is that they have partnered with Aetna to delivery informed consent for genetic testing for cancer.

What is this company? Well......

From the site:
Informed was created to increase access to experts in cancer genetics for people at risk for hereditary cancer. Genetic counselors help people and their doctors make the most informed genetic testing, cancer screening, and cancer prevention decisions

This is precisely what they are now doing.
From the press release:

Aetna (NYSE: AET) today announced that effective immediately it will offer members confidential telephone and web-based cancer genetic counseling services as a component of health benefit plans which include coverage for genetic testing. The services will be offered through Informed Medical Decisions, a national genetic counseling company staffed with board-certified genetic counselors with expertise in cancer genetic counseling.

The GTO has also just put this on their post. I feel bad replicating data, but there are some people who may not get the GTO newsletter. If you don't, your missing out.

The Sherpa Says: Telegenetics has been around for a while. The Military has been using it and there are places such as Harvard which are trying out video genetics. It is a shame that their are too few people in the field. I think that Myriad is actually helping out physicians with this task. However, a word of caution. According to my research.....the more confident a non-genetics physician is at counseling, the less likely they are to do well on a genetics knowledge test. This is where Informed comes in....at least for cancer counseling....To do more than that you need more
Although this sounds great it is too bad Aetna has one of the most retrictive testing policies for BRCA out there....

4 days too long!

I have had to sit out of the blogging game for 4 days. This was a self imposed punishment to help me get re-oriented. I have been working hard on the practices and have been talking to many different people about our next steps. So I apologize.

There are some neat things going on in the field of Personalized Medicine lately. My old friend The Mount Sinai Hospital will be offering CYP 2C9 and VKORC1 testing for Warfarin dosing. This is in addition to the other corporate labs which are already offering it, such as LabCorp, Kimball, Genzyme....

Why? I think this is part of a greater play by academic centers. Notably, Mt Sinai has a Institute of Personalized Medicine. This department was endowed by Samuel Bronfman's Philanthropic Arm. They have a mission which is to bring personalized medcine research to a point where it is ready to launch.....

They are also setting up a bio bank, offering money for people's genomes. Sound familiar? I had just talked about 23andMe possibly using their data in a similar way.....Except the investigators would be making money off of the research subjects...

Here's the difference....The Mount Sinai School of Medicine will be doing research on their own. Notably they have been doing it already. Despite some scuttlebutt about turf wars at a big institution they have started to play nice in the sandbox and put out some good research. This article I find especially timely. we have always known that genotypic variation plays a role in the metabolism of certain drugs. In this case, 2D6 metabolism has an even more important in the Ashkenazi Jewish. Here they find twice as many persons af Ashkenazi heritage have ultrarapid 2D6 metabolism. This enzyme is the key player in many psychiatric medications....

The Sherpa Says: I am absolutely certain that ethnicity will play a huge variable in the frequency of these ultra-rapid metabolizers of any medication. Pharmacogenomics may be meeting genealogy sooner than we think....Thanks to Sherpa Hsien for helping me with a SNP issue the other day......

Minding Shop

With all of this hullabaloo about genome sequencing companies and what they might do with your genome, including possibly selling the "de-identified" data to pharma companies. A great business plan, but NOT personalized medicine. I actually received 3 emails pointing out the same idea. I do know a friend of mine who sold his plasmapheresis company to the British Government, not because of the need for products in the UK, but because Bayer was this company's biggest customer.

So the whole selling data/product to pharma is a plan which can make tons of money. Which could be the reason why the"genome" service is so cheap. Last time I checked, the best bet at the craps table is the pass line, provided you are on a come out roll. It's the proverbial hook.

With that being said, I want to come back to personalized medicine and a recent study published in the American Journal of Human Genetics in the December issue. We frequently counsel patients that BRCA positivity does not mean you will absolutely get breast cancer. In fact the likelihood is less than 90%

So what modifies this risk? Well, we know for certain of 1 gene called RAD51. This gene interacts with the BRCA genes and is required for a certain type of DNA repair, known as recombinational repair of double stranded DNA breaks. It is known to predispose patients to a blood cancer called AML.

To investigate the role of RAD51 common changes/SNPs in the modification of BRCA risk, these researchers investigated the results of 19 studies from very diverse populations. The results were decent. Not a home run per se, but they gave us some insight into the roll of SNPs in modifier genes. The study indicates that your risk for BRCA related breast cancer is increased with a SNP called 135 G to C.

The carriers of two copies of this change have a 3 fold increased risk if they are BRCA2 carriers. The increase 2 fold for BRCA1 carriers. Which brings me back to my interview with Bertalan Mesko at Scienceroll. The world of personalized genomics is here, we now have the tools to say why 100% similarity in expression. So what's next for this finding? Maybe it will find its way to an Illumina of Affy Chip? This certainly would be useful information prior to prophylactic mastectomy......

The Sherpa Says: Ahh, it feels good to tell you about data leading us up to the personalized medicine revolution. We must not take our eyes off the prize here. Party tricks with an algorithm not validated is NOT personalized medicine. But the results of this study once further replicated could be. Imagine reflex testing for RAD51 SNPs after you have the BRCA results. This could put the decision process into a less ambiguous path.

Giving Thanks

In the US, today is Thanksgiving. A day where family and friends come together and appreciate what we have. We consume massive amounts of food, drink, some smoke, and not surprisingly get admitted to the hospital the next day.

This year I would like to offer up the one healthy thing you can do. Take your Family History. Started in 2005, the Surgeon General has named today, National Family History Day. So visit the HHS website and find out who has what, who died, how young.....it may end up saving your life. When your done and if you are concerned about it, Come See Us! We even do home visits!

The Sherpa Says: Happy Thanksgiving to all. Today I am thankful for YOU, my readers. Have a great Holiday!

Staying Positive

I was showered with a host of emails from my readers today. The GTO highlight, The Issue feature, Scienceroll's commentary all the readers had to say one thing. Sherpa, take it easy. You beat up on DNADirect and their questionable questionnaires, You picked on Forbes giving hype to deCODE, You pointed out that Navigenics had some sketchy ethics, Slammed Salugen, Attacked Myriad, and Now little 'ol 23 and Me. Did you have to sink this low?

Sink this low?

Wow! Ok, so I have been known to blow my top a time or 2. Can you blame me? Have I stated any incorrect facts? Maybe some, which I have quickly amended. Including the fact that DNADirect does not "mark up" test costs. Even though I am still unsure of how a company who sells tests at cost and charges 75 USD for phone consultation (even less than an academic center that is losing money on counseling pays a genetic counselor) makes any money.

So why did my readership feel this way? The answer. "Why won't you endorse us using suspect science data to give us suspect risk assessments?"

Huh?

Yes, it is true. Even the educated are intrigued by this little black box known as the Gene Journal and Risk calculator. Fine, I like the magic 8 ball too. So here it is. I am putting it on the record. I will not hate you if you use 23 and ME. In fact, I suggest you use it after taking a family history and having the familial risks evaluated. If these SNPs give you more insight than a family history....I applaud you. Here's my last appeal, please realize that this data will not be considered medical records if you use a non-healthcare company to screen your genome.

If you want the BEST coverage, you should use deCODE, 23andME, AND Navigenics services. This is the only way you will get ALL the SNPs your little lemming heart can desire.

Then, when you want to make your genome a medical record and protect it, ask your physician to review the data. If they rebuff, go see a geneticist. Helix Health of Connecticut can interpret the SNPs in concert with your family history. Your Genome In Context........ ;)

The Sherpa Says: Please don't hate me for the aggressive commentary. I am not a hateful guy. I just call it like I see it. Maybe you see it differently and that's the great thing about the Blogosphere. Different viewpoints, Different ideas, The Same Passion.

Who Needs Institutional Review Boards?

From Wired Magazine, a quote from Anne Wojcicki regarding her Gene Journal and risk calculator

"A lot of this is unknown. It's totally experimental," Wojcicki told me a few weeks before the science board meeting. "No one has looked at all eight diabetes markers together. They've all been identified individually, but they don't know exactly how they work together. So we've tried to make that clear."

To crunch these numbers and determine one person's risk factor, 23andMe has opted to multiply the risks together. But a competing school of thought argues for adding the risk from SNP to SNP. The two approaches can result in wildly different tallies.

Welcome to the first Google driven experiment in genetics, paid for by the customers......

Unfortunately that poor author from the NYT demonstrated her clear lack of that understanding. And she is a learned journalist, what's to happen to the layperson who has never had any education in genetics/science? Well, I guess you have to break a few eggs to make an omelet....... Primum Non Nocere....oh wait, I forgot, Anne isn't a physician...

The picture here is that of the Tuskegee syphilis study. A horrible experiment carried out on unwitting subjects that sparked the founding of Institutional Review Boards. IRBs were formed to protect research subjects. Why could Dr George Church only get a select few for his first personal genome project? The IRB deemed laypeople unable to give informed consent. How did they end around the IRB?

23andME "Genetics By Businesswomen"

The Mission? Mission Statement
23andMe's mission is to be the world's trusted source of personal genetic information

The Sherpa Says: Keep evading laws, it's the best way to gain my trust.

Not with a Bang...The Death of Personalized Medicine

Today I plan to discuss where this magical field of personalized medicine is headed. A few things have changed over the week, and I think that this may change what I was originally going to discuss. But all in all the likely paths of personalized medicine could be up to 8-fold. Some are less likely and are therefore not discussed here.

In order to really understand personalized medicine's future we must know 4 truths.


1. Genotyping is getting cheaper and cheaper. Less than a penny a base pair. So in turn genetic testing should get cheaper and cheaper. This is the idea of a 1000 USD whole-genome. Unfortunately some tests still remain in the thousands of dollars. Therefore, I assume (unless these companies are paying their workers millions), that there is some significant money being made here.


2. There is a lack of healthcare specialists trained in the field of genetics. In fact the healthcare system fails all of us when it comes to genetics education and understanding.


3. The alternative healthcare market is skyrocketing. Do-it-yourself (DIY) treatment with herbs, vitamins, and nutraceuticals is predicted to be a trillion dollar market in the next decade. As a corollary, because genetics is not well understood by the "standard" medical practitioner, many view this as an alternative healthcare style


4. Insurance reimbursement for even standard genetic tests and counseling is woeful. If you are with an insurer such as Empire BCBS coverage of a BRCA panel is limited only to those who have breast cancer, or those who have 3 family members with such cancers at frighteningly young ages. This is better than others, who flat out refuse to cover BRCA testing unless a letter of medical need is written(taking valuable time from genetics providers).

This leads me to the paths. I think the paths are reliant on 3 things

1. Legal issues such as GINA approval and legal requirements changing for genetic testing

2. Public opinion for genetic technology in medicine remaining favorable


3. Personalized Medicine not being oversold




Probable Path 1

GINA is passed and states continue to have strong laws regarding genetic testing .
In this environment of protection from discrimination, polls have already demonstrated that the public will continue to view genetics as good for medicine. Therefore there will be a market for personalized medicine services. Private and public investment will continue to fuel the machine. However,there will be significant legal challenges to non-medical providers offering genetic services. But, personalized medicine will thrive. Discovery will continue and the public will continue to be excited. Personalized medicine will start to be oversold and the public may go wary. We are already seeing these trends with companies such as Navigenics. If lawsuits should happen, and they will, private investors will back away from this potential landmine


Probable Path 2

GINA dies in the Senate and strong laws regarding genetic testing continue to be enforced.
In this environment the public will still continue to be wary about discrimination. Most will not see value in giving a company, not governed by HIPAA, their genomic information. This is the environment we currently are in. All of this investment in these genome sequencing companies can go awry if customers’ personal health information can be sold to marketers looking to personalize ads. In addition if the government wishes to investigate DTC companies, as it is currently doing in CT, private genome sequencing could be a fad like Z-Cavaricci’s. Cool to have for a little while,until you realize that they put you at risk of being ridiculed or discriminated against. Now smart ad people will tell you that it is worth the risk, they may even tell you “Why not have the data now? You can use it later, but why not buy it now? Everyone is doing it.” Until that first case of genome data showing up when your prospective employer googles you. I imagine that would be worse than those “party” photos you still have up on your MySpace site.

Probable Path 3

GINA is passed and laws relax on genetic testing
In this sweet spot for corporate testing we see the rise of consumer genomics. The public opinion views this technology as benign as pregnancy testing. This is a scenario where the movie GATTACA takes place. “Genetics as a tool for better living”. Fueled by investment the future of personalized medicine is strong. We will see sex selection, PGD for athletic abilities. Since employers cannot discriminate based on “genetics” we may see some lawsuits because of genetics being used as a surrogate for “abilities” Because of the lack of legal consumer protection, the overselling may end up killing the best parts of this field. The databases of genomic data for research will be overflowing as patients will have no fears. IRBs will not have to treat genetic data and differently and perhaps restrictions on genetic research will be reduced. Discovery could be enhanced in this environment. I can see why many PhDs would favor this scenario.


The Sherpa Says: There are many more paths mapped out in my mind. I, the Sherpa have envisioned this mountain for decades. This is my passion. My existence. Maybe you should ask your friendly neighborhood consumer genomics company if it's theirs too. One things for sure, overselling via the NYT, Forbes and 23andMe will kill any chance of personalized medicine being viewed as a credible, respectable, medical specialty. This could be the beginning of the end of personalized medicine!

Cottage Industry? Cottage Cheese is more like it!

Today in the NYT an article pops up which slightly disturbed me. The reporter had her genome sequenced by 23 and Me. What turns out is that indeed he is using his information for health. Surprise....when everyone was saying...."It looks as if 23 and me will only be doing ancestry analysis" WRONG.

So why am I disturbed? Genomic Voyeurism is on. Without the standard interpretation and guidance....people are soon to be hopping on the genome train. What is not explained is the fact that most of these tests are mere party tricks. Data to support their use in healthcare and prevention is fishy at best. Just like the snake-oil salesman, we have these companies peddling a peek into the future. All the while they are stealing ownership of your DNA!!

Even better I have thought of Miss Cleo as analogous to these companies.

an example from the NYT

"For instance, I tragically lack the predisposition to eat fatty foods and not gain weight. But people who, like me, are GG at the SNP known to geneticists as rs3751812 are 6.3 pounds lighter, on average, than the AA’s. Thanks, rs3751812! "

The gene implicated here is FTO, affectionately called FATSO, or FAT MASS- AND OBESITY-ASSOCIATED GENE. What is not explained in detail is that there are several variants of this gene. Some have significant data behind them. rs9939609 is one. But rs3751812 is not nearly as well examined. Chew on this to get a flavor of the nuance going on in these studies. Or this. To spout of risks and likelihoods via google is exactly where we are going to have some problems.

We all know that cigarette smoking causes emphysema (The horrible debilitating breathing condition requiring you to carry around an oxygen tank). But, here's a little known secret. ONLY 15% of smokers ever get emphysema. Why don't we tell smokers this? Because it'll give them false hope that smoking is ok. Why isn't it ok? A much higher percentage than 15% get lung cancer. How do we know that not being a carrier of this change is all that beneficial? The answer: We don't. So how can we make false assumptions about the allele rs3751812?

The Sherpa Says: What is tragically lost in this article is that explanation and understanding need to accompany genetic data. Otherwise we are left to our own assumptions, and we saw how right we were about that universe revolving around the earth . Or how about our world being flat? See what I mean. Without further examination, the advice 23 and Me, Navigenics etc. are giving now is just plain useless. That is precisely why deCODE has stated that their test should not be used for medicine. Only healthcare practitioners trained in interpreting your data should be.......Hey that sounds like us. Too bad there are only 100 geneticists who are trained in adult disease :( As for the disclaimer not to be used to diagnose or treat...last time I checked, I am ordering the same tests as 23andME to diagnose and treat! Maybe they should add a caveat "But to steal your genome" at the end.

The 10k USD Gene Sherpa

It's official. Our little poll is closed. 18 days, 14 votes. That's pretty sad. But from the limited and not statistically significant data, I am able to draw a false conclusion that the public feels that a Sherpa is worth 10k/yr.

How's that for profit margin? Perhaps the readers who felt empowered to vote are geneticists and counselors, therefore obviously biasing the data. But what really is a Sherpa worth? Our Sherpas at Helix Health of Connecticut are worth that much, but cost much less.

I was asked today by an investor "Where do you see personalized medicine headed in the next five years" I answered "It depends" Over the weekend I will list my scenarios and go over what I think the outcomes might be in different scenarios, so stay tuned. One of those big scenarios depends on how the data comes out.

A few colleagues over at Coriell are looking to create some of that data. In a collaborative effort called the Delaware Valley Personalized Medicine Project they hope to give us a glimpse into how this revolution may evolve. Thanks to my wonderful OraGene rep Melanie for this info. This is precisely the type of studies that need to be done to guide personalized medicine. Marker studies are cute. Outcomes studies have teeth!

Lastly, do you remember when I said that we still have alot of convincing to do? This post at Medical News Today is concerning. Funny, in Australia they refuse cancer risk assessments, but remarkably the DTC company testing for athletic ability is doing just fine. It truly is funny where people place their priorities.

The Sherpa Says: As I talk with more and more investors it is getting clearer, maybe the money is not in Personalized Medicine. That's why Australian healthclubs are pimping ACTN3 testing.

Updates from the Burrill Conference

Lo and Behold, the Sherpa goes looking for some updates, Epidemix and Wired deliver. My favorite line from Wired is

"Early medical testing and treatment could save patients and healthcare providers a ton of money, but nobody wants to pay for unproven and often expensive new lab work. FDA approval is not required for laboratory tests, but it is an indicator that products are actually beneficial to doctors and patients."

The best lines from Epidemix are

We’ll see about that - but there were three telling stats that came up during the day. Together, they make quite the case for personalized medicine.

1) Half of all prescriptions don’t work for the patients. Most drugs have an efficacy between 20 and 80 percent, averaging around 50 percent. Meaning that they only have their intended effect half the time. That might be awesome in baseball, but it’s hardly reassuring in medicine.

2) Chemotherapy is effective - defined as remission - in just 5 to 10 percent of breast and colon cancer cases. This is likewise startling (the stat comes from Randall Scott of Genomic Health). And factor in the fact that chemo costs about $30,000 per patient per year, and there’s a massively inefficient treatment module out there.

3) Six weeks - that’s how long it takes, give or take, for a physician to determine whether a given antidepressant is working for a patient. And given that only half of drugs work, that’s a rather long time for a patient to go effectively without a treatment for their depression or mental illness. (This from Wolfgang Sadee, chair of the pharmacology department at Ohio State).

But what is most exciting about the conference is the attention that was purported to be spent on predicition, prevention and personalization. This is what the essence of personalized medicine is.

Personalization includes face to face care and the ability to ask questions. Not questionnaires that give you incorrect guidance. No amount of computer work can give you the face to face communication. Here is an example of preposterous questionnaire results.

If I was a 40 year old woman with no first generation history of breast cancer, but had a more distant relative with breast cancer after 50, HH's position and that of the literature is that you probably shouldn't have BRCA testing as the likelihood is very low.You may ask why and spend time with us going over why we think so. But in a questionnaire the answers are often yes or no. Much like the one I just filled out. Don't believe me? Try it yourself

Direct sequencing is probably not the best "test" to detect and prevent breast cancer, a mammo is. And it certainly is tricky how this info comes up first, rather than the next screen where it says this test may not be appropriate for you. A questionnaire is only as good as the answers they provide....

The Sherpa Says: In the scramble to make money off of genetics the consumer should make sure they get what they pay for. If the cost is cheap, it probably means the same for the service....... I hope the public can understand that. Thanks to Wired and Epidemix for the great posts. I look forward to hearing the rest of the conference tid bits! Oh, and shame on those little questionnaire writers.....Did you really think someone with genetics training wouldn't pick up on that?

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!

Scienceroll reviews Personalized Medicine Companies

Today, Bertalan Mesko at Scienceroll has reviewed three companies. Navigenics, 23 and Me, and Helix Health of Connecticut of CT. For full disclosure, I am not only the owner of Helix Health of Connecticut, I am also a patient. My family has a significant genetic background for disease. Because of this, I was motivated to change the paradigm of current medical/genetics practice.

Berci does a nice job of describing the companies and what he estimates their best attributes.

"If we could merge the real advantages of these companies:

• the fantastic team of Navigenics and their unique business model;
  


• the financial background of 23andMe; the focus on genealogy information and social networking;


• the personal aspect of Helix Health of Connecticut and their potential to serve and help physicians as well,

…then it would be the perfect service. But it’s impossible to compare them properly as they are all unique in their own way and will probably find their base of customers."

I have to say that I am in agreement with Berci, I wouldn't mind working with Navigenics or 23 and Me to help shape this field known as personalized medicine. I have had experience with the multiple legal issues involved in providing telemedicine and other scalable services this way. But I must re-emphasize that nothing gets truly communicated unless the patient has the ability to ask questions, over and over again. Can someone who has never been trained in medicine answer medical questions? Yes. Will they be protected from litigation? No. Will they provide insightful answers....I leave that answer up to you.

I don't believe it is a smart idea to cut out the health care provider from this equation. Full Disclosure (I am a health care provider). But that's not why. I have seen it done the other way. I have seen patients who have had DTC testing. They have received services from certain unnamed companies and couldn't understand what was going on. Even worse the needed some re-assurance but the phone counselor obviously couldn't see the patients face. So all in all they came to me for personalization. The true key to personalized medicine.

The Sherpa Says: Stay Tuned to Scienceroll. I know I visit his blog everyday. The talented Dr Mesko has the most cutting edge information on this fast moving topic. He is my own personal Sherpa. By the way, make sure you vote, there are 4 days left. It's all tied up. "How much is a Sherpa worth to you?" Some of my readers feel like they could take a course to be a sherpa, Others already are Sherpa's, some are looking for a sherpa, and the last want to climb Mt Everest with 1 cleat, a windbreaker, and Wikipedia as their guide. Which are you?

Couma-GEN study

Hot off the presses atthe American Heart Association conference, results of a geneotypic based coumadin dosing strategy were released. The results of this 200 person study were pretty neat.
from MedPageToday

"Out-of-therapeutic-range prothrombin times were not less common with the pharmacogenetic algorithm than with standard empirical dosing, But initial doses chosen based on genotype were closer to patients' eventual stable doses (P<0.001) and subsequent dosing adjustments were smaller (P=0.002) and less frequent (P=0.03) than with empirical dosing, reported Jeffrey L. Anderson, M.D., of Intermountain Healthcare and the University of Utah in Salt Lake City, and colleagues."

"The Couma-Gen study included 200 adults with an indication for warfarin who were randomized to receive the drug according to a standard algorithm of 10 mg on days one and two followed by 5 mg daily or by a pharmacogenetic algorithm based on genotype, age, sex, and weight."

Most notably a subgroup analysis (which is suspect based on the small sample size) found

"Pharmacogenetic-guided dosing failed to reduce the percentage of INRs per patient that were outside the therapeutic range compared with standard dosing (30.7% versus 33.1%, P=0.47), which was the primary endpoint. However, there was a significant benefit when excluding patients with only one variant (41% of patients overall)."

So where does all of this dosing decision go from here? I await the CROWN study results as well as what Washington U St.Louis has to say.

Lastly, I have had only one comment on my last post. Why do you think DTC testing is Illegal in NY and CT. Please read this post and make a comment! The last one was pretty interesting. I wonder if he's tried do it yourself surgery yet ;)

-Steve

The Sherpa's Leash

Well, after the nitroglycerin I had to take for the angina my last post gave me (and I am sure many others) I have decided to ask my readership a question, I am hoping that we could start a dialogue. I know the last time I went at a certain GENEDTC company, a certain CEO asked an unnamed and famous friend of mine to put a leash on me. Next time, I ask the CEO to find my contact info on the Helix Health of Connecticut site and ask me nicely.

So I ask you all.

Why do you think it is illegal to Direct To Consumer genetic test in New York and Connecticut?

Please comment and lets get to the heart of why the DNA sandbox is such a contentious place.

Congratulations...Sort Of....

For those of you who had no internet/tv/WSJ access this week (But how could that be if you are reading this post?) Navigenics, the DTC genomic testing company has officially launched. 11/6/07 (Funny, my lucky number just happens to be 24) What they offer is pretty decent

From the WSJ

"The company believes people will want to take the $2,500 test when they're healthy, and then make lifestyle and other changes to avoid or delay disease. Results, which will be posted on a Web site that customers access with a password, will tell consumers their risk for more than 20 conditions, including diabetes, obesity, prostate cancer and glaucoma"

Not a bad price for 20 genetic tests. Who gives the counseling? Navigenics can. Will this replace high priced tests like BRACAnalysis? Maybe. But here is DTC testing's Achilles heel.

New York State has laws on medical privacy, genetic privacy, and human subject protection, making it among the more restrictive states for the conduct of research or genetic testing.

New York prohibits the conduct of “genetic tests” without the prior written informed consent of the individual. A genetic test is defined as:

“…. Any laboratory test of human DNA, chromosomes, genes, or gene products to diagnose the presence of a genetic variation linked to a predisposition to a genetic disease or disability in the individual or the individual’s offspring; such term shall also include DNA profile analysis. ‘Genetic test’ shall not be deemed to include any test of blood or other medically prescribed test in routine use that has been or may be hereafter found to be associated with a genetic variation, unless conducted purposely to identify such genetic variation.”

According to the statute, prior to a genetic test, individuals must be notified, individual authorization must be obtained, and specific elements must be incorporated into the informed consent form including: a general description of each specific disease or condition tested for, the level of certainty that a positive test result for that disease or condition serves as a predictor of such disease, the name of the person or categories of persons or organizations to whom the test results may be disclosed, and a statement that no tests other than those authorized shall be performed on the biological sample.

Bottom Line- A separate consent for each disease which is tested for!

For clinical genetic tests, the informed consent must state that the sample shall be destroyed at the end of the testing process, or not more than sixty days after the sample was taken, unless a longer period of retention is expressly authorized. New York law requires individual authorization for sample retention for up to ten years if no genetic testing is performed; however, informed consent must be obtained prior to the conduct of genetic tests. Retention of a DNA sample past a period of ten years requires explicit consent for a longer or indefinite period of retention.

Bottom Line-A separate consent for DNA Banking

So what does the written consent look like? I wonder what dream team of lawyers have debated these issues. This is not the first time laws to protect the patient were devised. Back in 1997 we had some similar arguments.

In addition to the thoughts of individual consents for zillions of "possible" tests. Who constructs consents for tests never conceived? I imagine you will have to review the DTC testing legislation in each state. A nice review is here at Hopkins.

In my states (CT, NY) we have many prohibitive laws....

From CT

Regs.Conn. State Agencies §19a-36- D29(a)

Regs., Conn. State Agencies §19a-36-D32(a)

Laboratories may accept specimens only upon request of licensed physician or other persons
authorized by law to make diagnoses. Laboratories may report findings only to the licensed provider that ordered the test. Laboratories may provide results to lay persons upon written request of the provider who ordered the test. An official at the Connecticut
CLIA Laboratory Program confirmed that DTC testing is not permitted.

New York?
N.Y. Pub Health Law § 576-b N.Y. Pub. Health Law § 577 10 NYCRR § 19.1(j) 10 NYCRR § 58-1.7 10 NYCRR § 58-1.8 10 NYCRR § 63.3(e)

In general, tests may be ordered only by licensed physicians “or other persons
authorized by law to use the findings of laboratory examinations in their practice or the
performance of their official duties.” Consumers are not listed among those
authorized. Test results cannot be sent directly to patients except with written consent of the
physician or authorized person, except blood type and RH factor can be given in writing to
the patient without written consent. DTC testing is permitted for tests that have been
approved by the Food and Drug Administration for direct, over-the-counter sale

to consumers. An official with the New York State Department of Health confirmed that
DTC testing is not permitted, other than for certain tests relating to the blood supply, such as HIV and Hepatitis C tests.

The Sherpa Says:

Congratulations Navigenics....I look forward to the hordes of lawyers, genetic counselors, and States' Attorney Generals. More importantly, this should serve as a wake up call to all DTC testing companies playing around in CT and NY. Consider yourselves warned! DTC testing in these states is Illegal! Luckily at Helix Health of Connecticut there are trained physicians and counselors skilled at guiding you through the testing process. In the offices in Greenwich or New York, Or through our home visit service. You get the best of both worlds, testing AND counseling!

6.8 IQ points! Give me a break!

When reviewing the web today it has become clear that the media is again hyping things today.
A study designed to evaluate the effects of ONE GENE on the role of IQ development in breastfed vs non babies. At first read does this sound like it could be true? I mean does the entire neurodevelopment of IQ hinge on this one gene.

Hsien Lei covers the story over at EyeOnDNA and so does Reuters.

Why is this story fishy at best?

1. According to the authors "We took cells from the children and then analyzed DNA and then we compared how they scored on IQ tests and looked up if they were breast-fed as babies," "It was very straightforward." Retrospective analysis is genetics is never the gold standard! Prospective is.

2. The authors even state (IN THE ARTICLE) that the modification of IQ is not likely to be due solely on this one SNP!

3. This is the FIRST study and replication is essential. But where do you read that at Reuters?

The Sherpa Says: That being said, this could be a pathway. I bring to your attention the age old debate about coffee being good/bad for your heart. When looking at environmental effects through a genomic eye the answer was found. Coffee is good if and only if you process it fast enough. So maybe we should be checking out FADS2 and CYP 1A2.... Let's not jump the gun just yet. Maybe the gene is just a marker and has nothing to do with breastfeeding at all. Just like this previously linked story....

The Genie is Back at Scienceroll

Thanks again to Bertalan Mesko for putting the Sherpa on the Map at the Gene Genie. Number 19 is up at his blog Scienceroll. A nice Texan tells us about our 95% "Junk" and the 0% in the Puffer Fish.

More importantly today I read a verification of what I already know. The United States population is fed up with our healthcare system. Is that a surprise to anyone? I know that the patient is fed up with short visits, uncoordinated care, and increasing costs. Why pay for a system that fails to place emphasis on preventative care? I for one am fed up with the system we have.

But what is the alternative? As a farily recent medical grad I face 280,000 USD in debt. In addition, I am in a field where the governmental rate at which the pay for interpretation of a complex genetic test is 18 USD. How many tests would I have to interpret to pay that cost back? You do the math. This is precisely why you have so few genetics providers in the US. The same is true for primary care physicians. We are headed down a dangerous road.

How will we ever achieve personalized medicine if the physician only has 20 minutes to do your preventative care. Lipids, Blood Pressure, Glucose, Colonoscopy, Mammo, Pap Smear. Once I address all of these things there is no time to take the family history. There is a reason why most EMRs don't have good family history intakes....There is no CPT code for taking one!! If you don't get paid for it, some would argue "Why do it?"

With Thanksgiving coming up I would like to remind everyone of the Department Of Health and Human Services tool to take your own family history. Take this time on this national family history day and use this. It truly could save your life.

The Sherpa Says: If Medicare pays 18 dollars for test interpretation (The largest amount of any insurer).....Maybe we should ask the public what they think it is really worth.

New Gene in Sudden Cardiac Death!!!

I have always had an issue with genetic testing in sudden cardiac death. A significant proportion of patients come up with "negative tests" Does that mean the patient and her/his family is not at genetic risk for sudden cardiac death? No....and now we do know there is another gene.

The gene is called GPD 1-L. Why is this gene important? Several reasons.

1. While not an ion channel (Which are the majority of Sudden Cardiac Death Genes) itself, it is a trafficking gene that allows the sodium channel to find its way to the cell membrane. Therefore the "channel" doesn't work properly. This has been known in LongQT syndrome and now Brugada Syndrome Many diseases have tricked us by these pathway variants, I can think of several modifier genes/polymorphisms in cystic fibrosis that can be missed on routine carrier screening

2. "we suspect that the function of the native GPD1-L gene and the mutant are influenced by oxidative stress, a process which interferes with the body's natural ability to repair itself from antioxidant assaults" Interestingly, smoking parents have been linked to SIDS deaths for quite some time now....This could lead to our finally understanding why on a given day someone who has this loaded gun can actually display the deadly arrythmia (funny heart beat)

3. This new discovery will help to identify those at risk of the >250,000 deaths each year from sudden cardiac death

The Sherpa Says: The evidence behind this link is solid. It is truly an identifiable cause of arrhythmia. Now if we could only get Familion to charge less than 5000 USD for this set of screening tests.....Perhaps we may be able to elucidate who will benefit from the device known as an Automated Inplantable Cardiac Defibrillator and who will not. Perhaps oxidative stress is the key linchpin here. Therefore, maybe by not smoking, taking antioxidants, avoiding oxidative stress we can prevent some of the 250k cases of arryhtmogenic death. Time will tell.