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!