5 Days after the Quake Critique

I want to know, when everyone got all upset with my review of the Quake paper and bashed me on this blog. Why?

Why did no one post on the Viewpoint put out in The Lancet exactly 5 days after my review?

What did my review say? You can read my analysis of the Quake Paper here.

I will keep this brief, as I will be speaking precisely on this topic on Thursday at the Consumer Genomics Conference.

Maybe no one read the viewpoint?

Today I was able to read the

"Challenges in the clinical application of whole genome sequencing" Viewpoint from Ormond et.al.

It echoes every single thing I have been saying for the last 2 years. Not that any of this is news for those of us in "the know" But it is confirmation that people who include a DIRECT Advisor to 23andMe agree with my stance.

However, there are some things in the paper that I disagree with.

1. "The author assumes that because of the rapidity of cost decline with WGS (whole genome sequencing), that it will be used more and more in Medicine."

I disagree.

Payors, Clinical validity and Exposure to malpractice risk will determine the uptake in the clinic

2. "Reduced sequencing costs seem likely to cause a rise in WGS"

I disagree.

Perhaps in research this will be the case, but for customers, who are now staring down the barrel of an FDA investigation, House of Reps investigation, they may think twice. No matter what Oprah has to say.

3. "even if that information averaged only 3 min per disorder, this process would take more than 5 hours of direct patient contact, after many hours of background research"

I disagree.

The average time per disorder would be at least twice that, meaning ten hours of direct patient care. Which on my clock is about 4000 USD, at least.

4. "As academics, we often assume that information is good and more information is better. but more information can sometimes be counterproductive"

I agree whole heartedly.

I know many excellent academicians who say "Garbage in, Garbage out" or "Information is just that, but Noise is Garbage"

The Sherpa Says: We need to bite things off a piece at a time. That is the problem with whole genomes. People will need to be revealed information in a staged fashion WITH SKILLED CLINICIANS. Nice to see Russ B Altman MD et.al., advisor to 23andMe agree with what I have been saying over the last 3 years now.

The problem with Comparative Whole Genomics......

I have been having this debate with a good friend and mentor.

I think Complete Genome Comparison could be a Killer App.

He thinks it could be a legal and scientific nightmare.

I think he's right.

Let's really think about this for a second. If history has anything to say about human behavior we need look no further than the secrecy with which gene sequences were hunted.

Hell, even Science makes mention of it several times. The Article "Data Hoarding Blocks Progress in Genetics" might be a good read if you are interested.

Guys like Daniel MacArthur over at Genetic future point out some good points about the difficulty in making sense of all the noise that exists in genomes. But the problems go even further than that. Hell, CNV can differ in IDENTICAL TWINS!!!! Say Wha?

So what do we have to say about this? Phenotype and comparison are kings. Databases of "normals" and disease afflicted need to be developed. They need to be curated, they need to be "shared"

Ahem, excuse me? Did you say "shared?"

Yes, I did say shared.

Exec/USGOVT/BGI/UK/Etc- "Well, sure we would like to give that idea more credence and study it. And the implications it may bring. Would you be so kind as to forward your attorney's information so that our attorneys can consult with yours in order to bankrupt you and send you away with you radical thinking?"

He has me convinced (a tough thing to do) that the level of collaboration amongst human geneticists and Venture Capitalists might not be exactly the level of their physician brethren....

What happens when you get access to a database, but not "all of it"

Who pays? Who benefits? Who gets rights of discovery? Who pays the Nosferatu? (sorry Dan)

With Sequencing as a Service, do you have these problems licked? Probably not.

So when Daniel points out every geneticist afflicted with a disease feel good discovery, there are about 100 nightmare scenarios of chasing down rare variants that turn out to be nothing except a good excuse to burn through 10 million dollars........

I begin to say, well how can we pick that up quicker? Comparative Whole Genomics.

Great, which database do I start with? Do I have to use 20 or 200 databases? How can I afford such work? Which one of the 200 won't make a play legally to own my discovery?

Ahh, yes. It is a good time to be a genome centric attorney. But a nightmare to launch a business where you depend on someone else's database.........

The Sherpa Says: Yes, sugar plums, ponies and lemon drops for as far as the eye can see for Genomics! I hope Andy will bring this back to earth........Or maybe Glenn Close can show us where the fruit punch swimming pool is?

Holy Crap! MedCo Follows in CVS footsteps

By December 21st the writing was on the wall. It was pretty obvious CVS/Caremark had jumped over the number one PBM in the field MedCo.....

How so?

Well, the increased ownership in Generation Health that CVS/Caremark laid down was the way.....

The newest of the benefits management companies.....this time the focus was on genetic testing benefits.

Personally, this type of company should have been formed in 2005 when Insurers were hemorrhaging cash from those BRCA tests........

But, slow and deliberate do Insurers move....

On the 21st it of December it was all but decided for MedCo. Ummm, Ummmmm, who looks like this Generation Health company?????

I knew back then and now everyone knows today.

MedCo buys DNADirect.....

In 2005 when My Partner at the time Leslie Manace went out to "see" Ryan...... In what turned to be a huge probe of Leslie by Ryan, Ryan revealed......"We are interested in PGx" Which was funny because so were we. So much so that we really thought that this was the bees knees and in fact was likely the only useful and scalable testing to come out in the next 5 years.

The DTC Genomics companies were merely a twisted dream at the time.

Well, Ryan. Our hunch paid off.

By Diversifying your DTC genetic testing company into something useful such as a GBM, you have moved shrewdly. And when the PBM leader gets trumped by CVS, you reap the rewards.

I look forward to the first quarter report from MedCo to see exactly how much they acquired you for.

I have been saying on this blog that the answer for these DTC genomics companies is to follow your lead. Now the question is, which big insurer will now but a DTC genomics company?

For MedCo, I am a little disappointed that you decided to choose the exact type of company as Caremark did. There are lots of other solutions out there. I hope you still plan on increasing your footprint in this space. Because it would be bad if CVS/Caremark continues to gobble these companies up and you end up buying the second in class.....

Not that DNADirect is second in class, but Heather Shappell et.al. ARE First Class.......

The Sherpa Says: There has got to be a way to make these companies less reliant on people. Even in the genetics testing space, there is a way to automate.

OK Guys, Seriously.......

What I loved about the second day of CGS coverage was that Dan now had some partners covering some of the space, heck I even saw twitter messages straight from Illumina.....

I want you all to listen to some very important statements. Francis Collins had his genome sequenced under an alias by 23andMe, deCode Me, and Navigenics - tells them here at Consumer Genetics Show - He says

1. Substantial differences exist in info revealed (carrier, non-medical, ancestry); not clear which markers are tested
2. Interpretations sometimes vary, even with the same data; exhorts DTC companies to collaborate on this.

3. Parents willing to pay nearly $2K for cord blood banking are unlikely to be daunted by cost of genome sequencing as it falls.


So here's the take home. When you get a cholesterol test, don't you want to have a uniform explanation and values? The same is true for genomes. This is why it is so damn hard to run a bread and butter lab.

You have to compete on different things......Insurance preference (Which often involves undercutting your costs), Turn Around Time, Integration into MDs work flow......

By exhorting DTC to have "Uniform" explanations he ultimately spells what will likely be the case for this business.....one big conglomeration of a company doing genome sequencing OR 5 mega companies, all competing on turn around time, Insurance preference, and MD preference........

This is fairly evident by the move made by Illumina.....where
1. ONE Company does Sequencing
2. 5 companies do interpretation
3. 1 company does the medical care

Do you see where I am headed? DTC genomic companies in the current form are doomed, unless it finds a way to adapt.

I told Dietrich Stephan that a way back and his investors rebuffed......Well, I am doing it anyways, without them......

You didn't hear about the Illumina move? Well, in spotlight stealing moment, they showed an iPhone app for your whole genome a whole genome at 30x coverage for 48 Thousand USD. ORDERED BY PHYSICIAN, counseled and then tested, a consumer can then get on their iPhone (maybe) or at least their new Mac and surf their results...

This could be a fantastic thing, if it were not for the Incidentalome that this will unleash!

Incidentalome?

Well, in radiology their is a term for finding something on a radiology scan which you weren't looking for. Most often this "Thing" is a benign cyst that regresses or is just an artifact...... But as physicians we end up doing a full court press work up and costing even more money than we thought possible......

Zak Kohane wrote an article about precisely this in 2006 in JAMA...........

He estimates "false positive" rates could be higher than 60%

So my point is this......50k or 5k or 500 bucks, the genome is going to cost about 500 bucks in less than 5 years.

During that time....WE STILL WILL HAVE NO F*CK*N& CLUE what most of the information in it means......And we will be trying to explains things which may mean nothing......... I remember the blog post I did about the geneticists sitting at a table with Comparative Genomic Hybridization Results.....They all said "I Dunno"

We may not know for a very, very, very long time......Francis Collins tells a joke

"A geneticist's wife was talking with her friends........She says "We've been married 20 years now and He keeps telling me how 'We are GOING to have a great sex life' "

The Sherpa Says: Give me a freaking break, Guys, Seriously. What the hell do you think is so great about this $H!T? Seriously? This will cause more confusion and likely more cost. What revolution does this bring? I can see PGx, but that is really about it. OK, maybe NBS too....

In My Inbox........

I think maybe the government of Germany has been receiving the same emails as myself. You see, in case you missed it, Germany is banning Direct To Consumer testing of DNA. This is something that I have been covering for almost 2 years now.....not the Germany thing but the whole regulation of what could be construed to be the practice of medicine.

Why do I think Angie Merkel has been getting the same emails as me? Well, take a look at my inbox-

"There is a new comment on the post "How to Fake a DNA Test".http://www.eyeondna.com/2008/04/13/how-to-fake-a-dna-test/

Author: Scooter Jones Comment:If someone wants to fake a DNA test would it work if he put someone elses saliva, sperm or blood in his mouth prior to being tested.?"

A while back I said that people could potentially "fake" a DNA test, planting DNA at a crime scene, etc.

It turns out 'Ol Scooter is trying to figure out whether Sperm, Blood or Spit is the best way to go......Too Bad he doesn't know that it's awfully tough to "spit" sperm or blood into a vacutainer tube.......

Maybe he could just bid on one of those Whoel Genome Scans that KNOME is offering.........too late :(

These DTC companies better hurry up before the US does the same thing as Germany's law

"Under the law, genetic tests can only be carried out by a doctor and require the full consent of all parties involved.

In addition it prohibits the use of genetic testing for indications of a predisposition to illnesses that appear only later in life, such as breast cancer or diseases of the nervous system."

The Sherpa Says: With guys like Scooter out there, it makes a lot of sense to follow Germany's line. These days we seem to be pro-regulation anyways......... I think I hear Agent Smith at the door now.....

I lost my Train....

So last week I asked the question. "Where would we be if we had a 1000 USD genome by next year?"....But more importantly I asked "Who would lose if we had a 1000 USD genome by next year?"

So who would lose?

I am having a hard time coming up with these. I think they tend to breakdown into several groups

1) The group who benefits from not being able to target medicines and diagnoses.

2) The group who would is scared to know what the secret of the genome holds

3) The group not nimble enough to change their practices and adopt new technologies

4) The group whose genomes hold some horrible secrets and disadvantages that have previously gone undetected

5) Those who I have left out, the unknown unknowns

So let's address one at a time

First up.....Who benefits from trial and error medicine? Who benefits from not having cheap genome sequencing

1 Big Pharma.....buy the drug.....doesn't work......buy another and another and another

2 Hospitals.....Chest Pain?????.......Admit to rule out heart attack........Chest Pain Again????.....Admit and repeat the process again..... To a certain extent this is true.

3 Device Makers........Obesity????.....Have a LapBand..........Funny Heart Beat?????.....Have a pacemaker. We are talking thousands of dollars per device people!!!

4. Knome....(Sorry George)

5 Patented genetic tests.....

6 Not the SNP people....their products now are merely the entry level players....They will switch to whole genomes ASAP....Trust me.

Can you think of others? I bet you can.....So who are they?

The Sherpa Says:

This is how we need to think about the barriers and how to break them down. We need to show who loses how they can win. Then we get them invested in the process. That is what the Wall Street Journal Article is all about.

Shaking Chills, Houston Texas and 1000 USD

I couldn't figure out whether I was hallucinating from the fevers or if the email I received from a reader was correct. He said "Could you explain this to me, from 350k now to 1k? How could this be"

He was of course speaking about the PacBio (Like Pacific Sunwear/PacSun) technology and press release that Reuters put out there. Man why can't I get on Reuters at the drop of a hat?

From the release
" A California company predicts it will soon be able to sequence an entire human gene map in four minutes, for just $1,000."

"It will change health care forever if it works," Hugh Martin, the chief executive officer of the company, said in a telephone interview on Monday

Martin thinks Pacific Biosciences' new technology will be able to get a human genome done in about 4 minutes.

Yes, my wonderful readers. These are the key words in this news release. From that tone, it sure doesn't sound like a finished deal yet! There are several things to consider with this new technology including the cost to implement and its fidelity of genome analysis. But don't be surprised if someone builds a better mousetrap soon. But the short answer is....Genome for a Grand? Don't hold your breath.

That being said....I want to re-emphasize the benefit of directed testing. This is a good market and now DNADirect it appears has a direct competitor. DNA Traits dot com is a place where you can get free genetic counseling. At rock bottom prices of 75/hr at DNA Direct I am flummoxed on how they actually pay their counselors. Now you go and say that their service is so insignificant that it is FREE? Come on....where is the business plan here? Some way they have to be making a profit...Dr Bettinger covers this company very nicely on his blog.

Their list of advisors includes a Critical Care Medicine/Population Geneticist. Great for geneaology....."Doron Behar has multi-year background experience in the development of genetic testing for the public using a direct internet based customer approach." It appears he IS a mitochondrialist! Unfortunately on the site I couldn't find the names of the genetic counselors willing to work for free :(

The website even has the DNA Direct feel to it. Interestingly, now I may have figured out where my Houston readers are coming from. Houston, Redwood City, Mountain View, Cambridge, San Fran, NY, DC these are all my hotspots for daily readers. I wonder why.

Lastly I saw a quote from Dr. Bruce Korf. I will email Dr Korf today and as how he feels about his name on the DNA Traits site.

DNATraits agrees with the recommendations set forth by the American College of Medical Genetics in their Statement on Direct-To-Consumer Genetic Testing. In this statement, Bruce Korf, MD, PhD, says, "It is critical that individuals ask for a referral to a genetic expert who can help in determining what tests might be advisable and in interpreting results."

More importantly, if testing is even advisable at all. I have some difficulty with FREE counseling without stating what those counselors are actually working for. I hope it is not commission......

The Sherpa Says:
No I am not hallucinating. The genetic and genomic market just got a little more crowded. Once again.....I ask that we make informed decisions regarding our testing and get some professional advice. FREE advice is just that. Even a free initial eval should be followed up with care that is paid for. As for an MD only reviewing POSITIVE results...what about the Maybes? Is a Negative really a negative? I would want an MD to review all results. Why? Because it is just good care and should be the standard of care. We can't cut corners in genetics, no matter how stretched we are. This goes true for a sodium level or an extremely complex genetic test.

Polls Closed, Myriad Tallies Up and We await Navigenics!

First I would like to thank everyone who voted on this very non-scientific poll. I extended the voting over a month, thousands of visitors later, we have our results.

What Personal Genomics Company is most Likely to be sued 1st?

23 and Me - 70%

Navigenics - 15%

DeCode - 10%

Knome - 3%

You may be saying "Hey That's Only 98%" I say, "exactly" That's why it's not scientific. For all who may be reading, including my daily friends from Mountain View (that's right, everday)
Who exactly will be doing the suing? Maybe an Attorney General? If you are Myriad then that is the case. I prevously posted about this dangerous predicament these genomic companies could be in and the reposted last week about it.

As for Myriad, expect more BRACAnalysis ads to be coming. The WSJ reports that the Myriad ad campaign in the NY metro/NE area has increased sales of their test. from medical news today:

According to the Journal, sales of BRCAnalysis, which identifies the BRCA1 and BRCA2 genetic mutations, have increased by about 55% from $34.2 million to $53.1 million in its second quarter that ended Dec. 31, 2007.

Does this mean more patients at risk are getting identified? Most Definitely. Does this mean that their opponents are saying that more people are getting tested inappropriately? Most definitely. How did this campaign succeed where the one in 2003 fizzled? Primary Care Providers including OB/Gyns. Ask your local rep how many more tests came through these avenues and I think you will be surprised.

Now back to the wait. Navigenics is slated to open early this year. With GenomeBoy receiving an invite to the ball, I am certain to see this launch very soon. Will they follow Myriad's suit? I imagine a 3 million dollar ad campaign would work very nicely in the tri-state area. But then we have to warn them of the DTC testing laws in these states. Lest they end up like Myriad.

I guess anyone can file a suit these days. So here's a word to the Genomics Companies....."Be prepared".

As for the other companies not so well capitalized....."Be Afraid"

The Sherpa Says:
If I had a law degree, like the millions of lawyers out there who can do this work for free. I would bone up on genetics legal precedent, corporate protections and genetic discrimination. If you think a certain ex-candidate for president made a bundle suing OB/Gyns, you haven't seen the beginning of the legal fortune to be made in genomics.

Evidence Base, Not Eminence Base for Genomic Medicine

I recently reviewed a publication in November by Muin Khoury. Muin has been championing restraint with genomic companies and medicine. In the article entitled
"Why should genomic medicine become more evidence-based?" He describes why we need to make the shift and why we haven't been so good at it. One of the biggest reasons is that the geneticists and research PhD geneticists have not needed to use evidence based medicine to publish. This is in direct contrast to large medicine trials, such as those required for blockbuster medicines. In Internal Medicine and Adult medicine, residents are raised on such evidenced based articles to guide best practices.

But where are the Internal Medicine Geneticists? What we need is a hybrid of medicine and genomics research. This is translational medicine, precisely what will be required to move genomic healthcare forward. The problem I see is that the researchers got a little carried away and the recent NEJM article threw a little cold water on them. But what the researchers have behind them now is cash and lots of it. So what will happen? I mentioned some of my ideas. What I truly think will come is that the Internal Medicine Geneticists will come out of the woodwork and start publishing translational studies. Hopefully they will collaborate with Helix Health of Connecticut, or at least with myself at Yale starting in July. Give us a call.

The Sherpa Says: If you let evidence based medicine and some of my guideposts lead the way, you will emerge from this craze better off than most.

GuidePost 1. An Odds Ratio/Relative Risk less than 2 is worthless. Always ask for the OR/RR!

Guide Post 2. Always ask for replication study data before you believe any association. You should have at least 2 replication studies.

Guide Post 3. Read the Sherpa and join the comments. Soon you can sign up for our newsletter.

The Gene Genie Gone Awry?

In an article entitled "Letting the Genome out of the Bottle — Will We Get Our Wish?" in the New England Journal of Medicine, I am left questioning if Drs Khoury and Drazen read the Sherpa. Well, I read Hsien's blog, so why can't they read mine?

These are several themes that I have been raising about Genome Scans and have even spoken with several news reporters and journalists about.

From the Article:

It may happen soon. A patient, perhaps one you have known for years, who is overweight and does not exercise regularly, shows up in your office with an analysis of his whole genome at multiple single-nucleotide polymorphisms (SNPs). His children, who were concerned about his health, spent $1,000 to give him the analysis as a holiday gift. The test report states that his genomic profile is consistent with an increased risk of both heart disease and diabetes, and because the company that performed the analysis stated that the test was "not a clinical service to be used as the basis for making medical decisions," he is in the office for some "medical direction." What should you do?

My first answer is to call Helix Health of Connecticut or your friendly neighborhood geneticist. My second answer is what will most physicians say? My guess is, "This is just a fad. This information is useless" They may be correct and they may not be. But until this data is reviewed by someone who is in the loop about genomic discovery, I am not so sure they can say for certain.

The next part of the article really had me thinking that they have read several of my posts.

It is likely that sample-handling errors are a greater threat to the validity of results than are genotypic misclassification errors. Yet even very small error rates per SNP, magnified across the genome, can result in hundreds of misclassified variants for any individual patient. Without transparent quality-control monitoring and proficiency testing, the real-world performance of these platforms is uncertain.

This is a significant issue. In a Journal of the American Medical Association in 2006 a group mathematically estimated that there would be a significantly high rate of false positives.

This is the problem I see with whole genome analysis for medicine. Just because we can do it, doesn't make it medicine.

But more important than any of this is the educational shortcoming that most physicians have with this data. As indicated by the authors.

For the patient who appears with a genome map and printouts of risk estimates in hand, a general statement about the poor sensitivity and positive predictive value of such results is appropriate, but a detailed consumer report may be beyond most physicians' skill sets.

The Sherpa Says:

This is why I started the Sherpa. We must stay on the Path To Personalized Medicine. Right now, Genome scans are a dangerous shortcut. Steer Clear.

To My Colleagues: If you have one of these scans from a patient, please give us a call

To My Early Adopters: Genome scans cannot be used for medicine yet, but they can be useful for other things...

To My Detractors: I am sorry if you are upset, but I will only speak my opinion.

We need more Samples/Sherpas!!!

Genetic Research is a hard business. You have to fight and IRB to get your I's Dotted and Your T's crossed. You have to write and write and write grants to get funding for your ideas. You have to manage the project and work to keep everything on track. But what will the rate limiting step be in genomic research?

Perhaps it is the lack of samples?

From Medical News Today, an exciting announcement regarding Lupus. Lupus is a terrible disease where the immune system attacks the body's DNA. It can cause horrible things including, stroke, skin disease, kidney disease, brain inflammation. In fact a whole host of persons who have this disease are unable to function in society.

A new finding includes the discovery (Not Validation) of a gene implicated in Lupus' pathogenesis (disease cause) OX40L. These researchers have identified other risks as well. His findings are only mildly interesting as replication will be needed. But what is more telling is his plea to the British people

"Without DNA samples from people with Lupus, we would be unable to study the disease," he says. "Despite the disease being relatively common, DNA samples are in short supply. I would encourage patients to discuss with their GP or consultant about providing a blood sample to help further our understanding."

With all of these companies looking at your SNPs or your Exomes or your Genomes and the vigor with which they launch PR campaigns. One would hope they could donate their datasets to these Scientists in need.

I perosnally have been trying for months to help a friend donate her genome to a sequencing project. Hope fully the Delaware Valley project will take her code. I think that genome sequencing will ultimately win the day over some of this SNP Chip technology. Why? SNPs are not enough. Copy Number Variation will slowly be found to play as large a role...if not more. You can read about some of this here.

The Sherpa Says: Did anyone watch the 60 Minutes special on Sherpas in The City. Turns out that for their health Sherpas are moving to New York. Any Gene Sherpas in the batch? I sure hope so. The Gene Sherpas of the world are coming together for one big collaboration and I can't wait till we all can guide the genomic tourists of the world!!! Stay Tuned for the Sister services soon to show up on the scene. Heads Up L.A., S.F., CHI!!! Are you a Sherpa? Want to join the team? We would love to have you. Can't wait to see you all in NY!

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?

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!

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....