Good Morning America and Our CliniCast(TM)

You gotta love it when the perfect storm hits......

Doctors open their New England Journal of Medicine....

The Public Flips on the TV to Good Morning America and ABC, who have covered this before

AND.........

They both cover....Pre-implantation Genetic Diagnosis, Autism and Mitochondrial Disorders, Pharmacogenetics, and MultiFactorial (Read as SNP testing) analysis for breast cancer risk.

What is a physician or the public to do?

Tune into the CliniCast series that will be sponsored by Helix Health of Connecticut.

Today at 1pm the next in a series of CliniCasts(TM)

One in four patients who receive anticoagulant therapy (warfarin) experience bleeding events. I have seen people need transfusions, surgery and clotting factors.....I have even seen people die as a complication of anticoagulation.

This topic is sure to inform all of the history of anticoagulants, genetic testing for dosage and the ethical, legal and social implications of such testing.

Come Register and learn all about the future of Genomic Medicine.

How's that for Genomic Medicine by Press Release?

Warfarin......what a horrible drug!

I have seen people require trasfusions, special clotting factors, surgery. I have even seen people die at the hands of this medication. How can we tame the beast????

FOR IMMEDIATE RELEASE

Contact
Jonathan Freed, Chief Community OfficerHelix Health of Connecticut, PLLC(888) 584-8999(212) 918-9394 fax webcasts@helixhealthofconnecticut.org or visit our website http://www.helixhealthofconnecticut.org/

One in four patients who receive anticoagulant therapy (warfarin) experience bleeding events.

Join Dr. Steven Murphy, Dr. Gary Marchant and a panel of medical, scientific and legal experts in a 90-minute Helix Health of Connecticut CliniCast(TM) on genetic testing, genomic medicine and the science of accurate warfarin dosing.

Greenwich, CT, June 23, 2008 — Helix Health of Connecticut, the first U.S. stand-alone genomic medicine practice, is hosting a 90-minute CliniCast(TM) this Monday, June 30, 2008 from 1:00-2:30 PM EDT to examine:

How Genomic Medicine Improves the Accuracy of Warfarin Dosing

Registration
To register, point your browser here: http://event.netbriefings.com/event/helixhealthofconnecticut/register.html

There is a growing number of patients taking warfarin (also known under the brand names of Coumadin®, Jantoven®, Marevan®, and Waran®) who are not willing to take the risk of experiencing a bleeding event from their medication, and they are undergoing genetic testing to discover and to understand what they must do to manage these risks. Knowing a patient’s genes may significantly aid in initial warfarin dosing.

Webcast topics:

1. Why genetic testing is a necessary feature in anticoagulant therapy.
2. What potential risks exist in “Trial and Error” Dosing
3. Will insurance cover this genetic testing?
4. What are potential tort issues in predictive genetic testing and medical uses of genetic tests associated with anticoagulant therapy?
5. Why aren't physicians utilizing FDA approved testing and dosage guidance?

Panel:
Steven A.R. Murphy, MD - Clinical Genetics Fellow at Yale School of Medicine, and Helix Health of Connecticut's Managing Partner will moderate the panel.

Adam J. Messenger, MD - Specializing in the fields of Pharmacogenomics and Pharmacogenetics, which strive to select the correct medication and the correct dosage of that medication based on an individual’s genetic blueprint. Currently on faculty at New York Medical College and at the Graduate School of Basic Medical Sciences in the Department of Pharmacology.

Glenn Gandelman, MD, MPH, FACC - Cardiologist specializing the diagnosis, prevention, and treatment of cardiovascular disease. Managing Partner, Gandelman Cardiology, PC, Greenwich, CT. Additional training in echocardiography and nuclear medicine. Board certified in Internal Medicine, Cardiology, Echocardiography, and Nuclear Cardiology. Also prominent blogger and writer for the New York Times website About.com. Glenn wirtes for heartattacks.about.com

Eric Johnson, PhD - Chief Science Officer Iverson Genetic Diagnostics, Inc. Director of the Neurovascular/Epilepsy Genetics Research Laboratory at the Barrow Neurological Institute (BNI) in Phoenix, AZ and as Founding Director of the clinical Molecular Diagnostics and BioBanking Laboratories at PreventionGenetics in Marshfield, WI.

Gary E. Marchant – PhD, JD, Lincoln Professor of Emerging Technologies, Law & Ethics, Sandra Day O'Connor College of Law; Executive Director, Center for Law, Science & Technology, Professor, School of Life Sciences Arizona State University.

Registration

To register, point your browser here: http://event.netbriefings.com/event/helixhealthofconnecticut/register.html

Registration is limited, so please register soon.
If you are unable to attend, a podcast of the session will be available on the Helix Health of Connecticut's website. http://www.helixhealthofconnecticut.org/

About Helix Health of Connecticut/NYC, PLLC/LLC — a medical practice that is bringing genomic medicine to health care. With offices in Greenwich, CT and New York, NY, offers patients and their physicians expertise in genomic medicine and provides the tools required to take full advantage of genetic testing.

To view our May 21st CliniCastTM on Genomic Medicine and the Management of Breast and Ovarian Cancer, visit http://event.netbriefings.com/event/helixhealthofconnecticut/Archives/genomic/

Register now....we have registrants from Harvard, Cleveland Clinic, Yale, 23anMe, DNADirect, Navigenics, Mayo, Affymetrix, Iverson, 454/Roche, DNAGenotek, Broad, New York Times, LA Times............Come join the fun!!!

The Sherpa Says:

Have been busy with AG....who is demanding more of my time lately....So I decided to pull a "science by press release move"......whaddya think? In all seriousness, please sign up for the CliniCast(TM) It promises to be one of the best....especially in this time of regulation.....because litigation always follows regulation.........

ABC, Misinformation and Government Regulation

I have to comment on something. ABC news tonight covered the whole drama in California.....But they really didn't. In fact they gave 20 seconds (approx) to the fact that the government was finally regulating this industry....they did even manage to squeeze in that the FTC is investigating deceptive advertising.

What the piece really was.......A human interest story....much like the excellent work done by Amy Harmon at the NYT....Which reminds me....did anyone see Kathy Hudson throw the Federal Gov't under the bus???? She now really has put them on notice and put their backs slammed against the wall.

So the ABC report?

52 year old woman caring for her mother with Alzheimers.

The pitch

"I am taking an at home test to find out what my risk for Alzhemier's"

Whoa!!!!! No one....I mean no one mentions the limitations of the test she used from....You Guessed it AlzMirror!!!! ApoE e4 testing.

In fact George says "Some tests show increased risk for a disease, then you can do something about it" The problem....they then freakin show a guy getting a colonoscopy....That is not even a close comparison

To even implicate that Alzhemiers and ApoE e4 might have the same screening and prevention as hereditary colorectal cancer is preposterous. And you wonder why the government is stepping in???? The press just made the public link the two!

Hey ABC, Next time you cover this, give the Sherpa a call!

Instead of the Sherpa....ABC picks Francis.....a wise choice....I would have jumped down the journalists throats...

I think the Good Dr Collins even quotes me.........."Genetic Snake Oil" or the other few people who used this term last year....

But, they only put Francis on for 30 freakin seconds!!!! Are you kidding me? Elissa Levin gets more screen time than him. In addition, Elissa sits down and goes over results IN PERSON on the show......Do they do that for people who test (Sorry, they don't test, they do analysis of their Non-Medical DNA data that includes risks of medical conditions) with Navigenics? I did notice, 23andMe weren't in the report....

Their participation was really minimal.....as I said this was a human interest story. What really got me was when this poor lady got her AlzMirror test results....

She said "This is great. I only have a 30% chance of getting Alzheimer's Disease"

This is the biggest crock out there! An negative ApoE e4 test is not definitive. The public now thinks that the DTC test can indicate risk of ALL Alzheimer's Disease...I am so blown away about this....Can you imagine???? Alzhemiers genetics is so confusing. There are reams and reams of data out there indicating family risk of Alzheimer's disease....It's heritability is something like 70-85%.

What was amazing, there is absolutely no commentary on the limitations of the ApoE e4 testing and the other genetics of Alzheimer's....Did they bother calling Rudy Tanzi???

I am so upset by this. That's why I am blogging.

So the real story

"But Collins says customers are getting predictions, not necessarily medical recommendations or prescriptions about what to do about the information. "

30 Percent huh?

Holly Hagy, 51, of New Haven, Conn you could have seen the geneticists at Yale.

Here are your real stats.......

1. One first degree relative with Alzhemier's disease? 500 fold increased risk......despite ApoE e4 status....Not 30% My God!!!

2. ApoE e4 is only one risk factor and is modified by other genes, there are other factors

3. Even the REVEAL study gave numerical estimates of risk based on FAMILY HISTORY!!!

4. Did you see the GWAS on Alzheimer's?

5. What about her blood pressure, LDL, stroke history....all of these things play a role.....too bad AlzMirror didn't tell her that!

6. Who can she sue for the malpractice she just received...No accountability by these guys.....that's another reason to involve healthcare!!!

Should ABC be pilloried on this one? I don't think so, but they should have vetted the risk prediction.

Because of this recent study!

"The pilot study showed that there was limited knowledge of genetics overall and AD genetics in particular, considerable concern about personal risk, and little knowledge of or interest in genetic testing for the disease."

ABC just increased interest and actually portrayed incorrect knowledge....way to go! And you wonder why the government is getting involved in DTC testing????

Smart Genetics got a letter.....Maybe ABC should too? JK

Ms. Hagy, please give us a call and we can put your ApoE e4 results into the proper context!

The Sherpa Says:

This is precisely why the government is stepping in guys....they can't allow the press to butcher it AND Hype it.........the companies to tell less than half the story and hype their tests..........the consumer to be duped into false statistics..............and Kathy Hudson to point out that the federal government has been asleep at the switch for the last 30 years......This is only gonna inspire more regulations....Or at least enforcement of the ones that exist......adjust it for new technology? Last time I checked, genetic tests have been around for over 2 decades.....

454 anew......It's been 1 year

"To advance science all one has to do is say Yes" That came out of the mouth of Jonathan Rothberg at Baylor College of Medicine, describing what Jim Watson said to him when they decided to sequence his entire genome.

It has been 13 months since the man was given a special DVD....no not that kind....the kind with a His Genome on it.....

What motivated Jim to say Yes? What motivated Jonathan to create 454? Personal events always do.....

Jonathan, it turns out, was motivated by his son's secondary apnea event at birth. 454 revolutionized gene sequencing and genome sequencing. 454 used water droplets in an oil emulsion to create "test tubes" for PCR. Imagine the crazy amount of droplets that could be created to concurrently do PCR!!!! 30 cycles per time........billions of base pairs.......24 billion at first.....In the case of Jim Watson!

Did I tell you 24 is my magic number? One can only imagine the epigenetic changes!!!

I am writing today to tell you how amazing it was to meet Jonathan in person. I had posted on him in the past and even about his Vinyard Chamard. Why is it that all my genetics heroes are tall???? Francis, Jonathan, Rick, Lynch, I could go on and on.....Well at least Ken Offit is as tall as I am.

Well, it turns out that Jim's genome WAS the first available online, in addition before genetics Jonathan was a proteomics guy.....Guess what?....That will soon come back around. I enjoyed my time with the Yale Alum and YNHH born prodigy.......I too was born at YNHH....I look forward to the day when I can have an institute, sell my company to Roche, sell my other company to Standard and Poor's, Create a stonehenge like clock with my children's' birth dates....I could go on and on, but you can check it out at his LinkedIn page!

He gave me some very sage advice and guidance.....It truly is amazing when you begin to appreciate all the people he has helped along the way. I hope to do the same.....someday.

This afternoon I plan to announce some major news.......While you wait chew on this
Stay Tuned!!!

Hero Sighting

I met one of my heroes today. I am honored and in awe! They told me not to gloat!!! From now on I will never, ever, EVER gloat! I promise.....And I will play better with those who risked before me.....And still be edgy......
More to follow
-Steve

Burrill Report....deCoded

Consumers are worried about developing genetic based diseases, but remain reluctant to use genetic tests that will provide early warning signs.





That is the lead statement in the executive summary from the Burrill and Company Personalized Medicine and Wellness report issued last week. Many may ask "What's this report have to do with me?" many have even doubted the validity of the report in favor of the blogosphere......In the arena of Genomic Medicine, I would say the blogosphere is pretty one sided.....IN fact, that is why the Sherpa is popular. Until I started blogging, this place was pretty much a mutual admiration society. Further proven by the backlash I received when I said that governmental regulation was coming and then came.


So let's go back to the poll.....


Second Line

Companies need to make the case for the benefits of testing, allay privacy concerns, and would be wise to work through doctors.


We have known this in Medical Genetics for a very long time. If you have counseled anyone, you know these concerns to be true.....


Only one in five consumers said it was very likely (5 percent) or likely (15 percent) that they would get a test in the next few years to measure their genetic risk for certain diseases.


This is a point of contention between Daniel and Me.......He says 20%......I say 5%....


Why? Only the very likely will get the test. It is just like a referral to see another doctor.....if you aren't feeling ill, only the very likely will ever go see that specialist.....It is called the attrition rate and is commonly understood in medical care......only 20% of your "presymptomatic ill" ever go see the referral.


So, I remain certain, the market for these tests is 5%

Just 4 percent of those surveyed said they have ever had a genetic test to determine their risk for a particular disease, but two-thirds of those who did so because it was recommended by a doctor.


My guess is that these patients received BRCA testing. What this doesn't say is who ordered the test and was it done DTC versus through a physician. Did the other one third "Ask" a physician for the test? The most likely reason a physician orders a genetic test? You Guessed it "Patient Request"


I don't believe all of this self reported survey (Physicians never like to look out of the loop) but the most likely reason to test is pretty strong.


Factors associated with ordering or referring included practice location in the Northeast [odds ratio (OR), 2.30; 95% CI, 1.46-3.63%],


feeling qualified to recommend CSTs(cancer susceptibility tests ) (OR, 1.96; 95% CI = 1.41-2.72),


receiving CST advertising materials (OR, 1.97; 95% CI, 1.40-2.78%),


and most notably, having patients who asked whether they can or should get tested (OR, 5.52; 95% CI, 3.97-7.67%).


It Trumps Feeling Qualified!!!! Even Myriad knows this!


So with this in mind, let's go back to the Burrill Report.


What About GINA????

only just over a quarter of respondents (28 percent) said the passage of GINA made it significantly more likely (7 percent) or somewhat more likely (21 percent) that they would undergo genetic testing. A total of 68 percent said the passage of the law would have no effect on their decision to get a genetic test.


Remember the rule of attrition......that to me states only 7 percent feel more likely to test.....But the physician recommendation may alter that a little bit....not alot, but a little. We saw a spike at Helix Health of Connecticut....so I know this must be influencing some....


SO Who did the report?

The survey, conducted through ChangeWave’s proprietary network between May 27 and May 30, 2008, is based upon responses from 550 consumers.


AND THE NETWORK CONSISTS OF?????

Nearly 3 out of every 5 members have advanced degrees and 93 percent have at least a four-year bachelor’s degree. This is a proprietary network of more than 15,000 highly qualified business, technology, and medical professionals in leading companies of select industries—credentialed experts who spend their everyday lives working on the frontline of technological change.


IS THERE MORE TO COME?????


These results represent the first part of a three-pronged benchmark personalized medicine and wellness survey that is being undertaken by Burrill & Company. Companion surveys of physicians and industry professionals will be joined with this study for the final report, which will be made available this summer.

I found this article in 2007 by David Ewing Duncan very useful. The Quote from Lee Hood and then from David Altshuler both physicians.....

David asked Lee who has met with Google and has long been a maverick bridging the worlds of biology and I.T., "do Web entrepreneurs truly understand the limitations and pitfalls of this science?"

“They absolutely do not,” Hood says. “The heart of predictive medicine is in getting clinical validation and working out the fundamental biological systems—how genes and proteins and other elements interact. I don’t think that most of the Web 2.0 crowd entirely gets this.”

The he asked David what value do you see?

Critics also see little value in testing healthy people for a wide range of possible diseases. “We don’t take an M.R.I. for everything, and I don’t order every test for every person,” says Harvard geneticist and physician David Altshuler, a key figure in the Human Genome Project. “Those who do are scamming people. It’s the idea that just knowing something is useful—well, maybe, maybe not.”

I wonder what the physicians poll will show????

The Sherpa Says:


The writing is on the wall....Despite what the blogosphere says.....if these guys have 15000 members, why poll just a paltry 550? Because all they needed for an effective sampling WAS 550....We are not talking about a study to establish linkage here ladies and gentlemen...we are talking polling....much like political polling they only need a good sample....unlike(No offense) the skewed sample in the blogosphere. To Industry I say, get to know your doctors. There is a reason why Myriad is so successful......

Let's Just Say.....

I, Steven Murphy MD, am for Genomic Medicine, I am for patient empowerment, I am for the revolution known as patient centered genomic healthcare. I did not delight in the governmental actions, I did not enjoy watching the smack down. I was happy with the fact that my estimates were right. I was happy that the Sherpa "called this one". I was also happy that the public may now begin to start trusting these tests. But don't ever say I was happy about governmental regulations.......I am not for any added regs. It just doesn't make any sense to add what is already there. Unless you are talking about enhanced protection from discrimination.

I did some thinking over the weekend and even watched the Sunday Morning Shows including CBS. They put together a nice review of the changing face in West Texas. That face is the change from old oil to wind power. They even pointed me towards a movie. "Giant" with Liz Taylor and Rock Hudson. It is described as:

Ambitious Texas-style scale epic that traces the rising and falling fortunes of two generations of Texans. Miscegenation, moral dissipation, racism, the oppression of women....a variety of topics are brought forth during the film's 201-minute running time. The core of the film is actually the relationship between Bick Benedict and his wife Leslie. It is through them that we follow the film's themes of generation, conflict and social change.

The crux.....other than the racism and other garbage....... It is a film of a family feud between the Old Guard and the New Guard

Sound familiar??

The movie portrays how the oil industry transformed the Texas ranchers into the super rich of their generation. Maybe the genome era will do the same for the Technology Guys in the Valley?

So with that warning in my head....I decided to let this one play out.

Let's just say the market (Which BTW is barely 5% of affluents) can get unfettered access to their data/genome(not a genome yet) and "Non-Medical" interpretation. What do they do with it?

1. Hold it up like a trophy. See KNOME and the NYT.

2. Act on the unvalidated data or data that may not apply to their ethnicity. Like the 9p21.3 test for heart disease...if you are African, you can forget about that applying to you.

3. Feel better with the false hope that they are at low risk for breast cancer, despite having had it in the past (Seriously, we have a patient like this)

4. Feel that they beat "the Man" and that the government can't regulate their Genome

5. Not act on some unsubstantiated "risk lowering" variant....most of these are unreplicated studies...thereby increasing their risk.

There are many other options, I am certain....But these seem most likely in my estimate. Especially give the Dearth of the studies. Trust me, we spent a ton of time at the ICOB meeting in Philadelphia debating the clinical utility of some very important and validated SNPs, like FGFR2 (hours). Where even if you have the risk.........there is nothing you can do to reduce it. The same seems to be true for 9p21.3, it's risk is independent of LDL, CRP, BP, or other usual treatable risk factors......So what is an early adopter to do?

Let's say they then get the data, they then act or don't act.....What happens when there is some new data?

1. A DTC company says "It is not reasonable or possible to follow up with those they tested". This actually happened in San Francisco, I heard it with my own ears!

2. Another DTC company says..."We have a subscription service."

3. Another DTC company says "We're workin on it"

4. The physician says, "If I would have ordered it, it would be my legal responsibility to follow up on changes on the results with you"..........A very small few would continue with "But since you chose to do DTC, I can't help you"......Unlike those, we at Helix Health of Connecticut and most responsible physicians do help those DTC patients.

5. You Google it and try to interpret Affy 6.0, SNP, indel, use SNPedia, try to understand CNV, epigenetics...I could go on and on here......Only a select few would be able to do that. Assuming the data found is accurate. We all know that sometimes that is not the case...

Let's say you then manage to get your updates.....What do you do then?

Two scenarios

1. Actionable data

a. Go see a physician/healthcare practitioner

b. Go see a genetic counselor

c. Ignore the advice

d. Can't find a healthcare practitioner that can understand SNPs or genes for that matter.

2. Non-actionable data

a. Try to act on it, like the case of FGFR2, resulting in self pay for extra mammography, which actually may be harmful to you. In which case a physician may not order the testing you want. Which leaves you paying out of pocket for an unnecessary test. Which may be harmful.

b. Don't act on it and wait for more updates....which brings you back to the prior sections.

In the end....I will assume all roads lead to "To see a physician or Not" Which makes me believe that the sooner you involve a physician in the process the better. Why? Because they will be bound to follow up with you, bound to inform you about the limitations and risks of each test, bound to examine you, bound to manage your modifiable risks...etc. etc.

This is why the Burrill and Company poll didn't surprise me.....Why do this through someone who isn't bound by anything? Because you don't want to be regulated through a gate-keeper?? Or because the day when testing could be done through spit rather than a blood draw you saw it as an opportunity to free yourselves from the bondage of healthcare?

Before taking these tests, one should ask...."Who will follow up with me?" If the answer is "Me" The next question must be "Do I feel knowledgeable enough to interpret the studies and do that?" If your answer is "Yes"....you probably have already had your SNP scan.....and you shouldn't complain about the enforcement of CURRENT state and federal laws.

The Sherpa Says:

I just think this makes common sense. Maybe I am wrong and hindering progress? I doubt it. I am actually preparing to make Genomic Medicine available nationally, so the arguments are foolish. It looks like the public agrees....now it is just a matter of watching the government do what it intends to.

Daniel is a Great Guy!

I wanted to post quickly today on a this whole turf topic again. I thank Daniel over at Genetic-Future (Pound for pound the best new blog in this arena). It took some discourse to figure it out.

What happens normally with genetic testing?
Traditionally a lab scientist, being PhD or MD runs the lab and when results are in writes a report that is to be delivered to......Guess who? A physician. That physician or genetic counselor working with the physician interprets the report clinically at the interface of the patient.......presenting the patient the results and the clinical implications. (This is the part that laboratory scientists often never see)

Eureka! I have finally figured out this whole play!!!!

Why is the state cracking down? When these DTC companies, Genetic, SNP, or not deliver results to the patient/consumer......the traditional method is blown away. There is no trained clinician to "re-interpret" these results in a clinical fashion!

I stumbled across this when Daniel said to me (loosely and not in these exact words)
"If your theory (SNPs + Interpretation = Medicine) then I am practicing medicine." That's when it hit me.....if he delivers these results to a trained professional...as is the existing model of genetics, then he is NOT practicing medicine. Because the clinical professional will then re-interpret the results in a clinical light. This makes tons of sense. Why? Most lab physicians and scientists have never spent a day taking care of a patient clinically.... Some have, but not most.

So, I finally get why all the lab guys (and gals) are freaking out at my comments and attacking with the "Physicians are trying to get more turf!"

The simple answer is, "That is Bull$h!z" The lab guys are actually trying a power play here. They are the ones trying to increase their turf without playing by the clinical rules. Why? Because they never had to play by them before! It all makes sense to me. How can we expect non-clinicians to adhere to clinicians' rules? They never had to before....other than this one huge rule......"The results always go to the physician/clinician."

The Sherpa Says:
This regulation is because scientists crossed the line into clinical, NOT because the clinicians want more work...Trust me, they have more than enough. The buffer is already there, no one is making any new rules....these are the same 'ol rules.....that are not being followed. That's all.

Guest Post Today, Hopefully he doesn't get Flamed!

Before you read this post.....I want to make one last comment. Before you could spit and give your DNA......Your blood had to be drawn. Sometimes....many, many, tubes. I feel that if we still required blood all of these arguments would fall to the wayside. But now that is not the case. It seems to me that Spit has turned patients into a commodity. This dehumanizes all of us. Well, at least I feel this way.

Now to the post..Unedited...

I would like to thank the Gene Sherpa for giving me the chance to provide a guest posting. As a non-medical professional and a consumer who has not had his genome sequenced for a genetic mutation that could put me at risk for a genetic health condition, I assume that a consumer who has a genetic test done from a personal genome company might get a test result similar to the following: "these results do not guarantee that you will or will not develop breast cancer.

Please keep in mind that many other genetic and environmental factors are likely to play a role in development of breast cancer when interpreting these results." As a result, the consumer has a test result that they can't do anything about. Even if the patient takes this test result to a genetic health professional, the health professional can't rely on the test result because it didn't go through proper testing and counseling protocol. When a consumer meets with a trained genetic health professional, the consumer will have a detailed family history done to see what risk(s) he/she has of developing breast cancer (or any other genetic health condition) or passing a genetic mutation to an offspring and learn about which genetic test they would benefit the most from...with leaving the option up to the consumer to have the test done or not.

A negative test result means that person doesn't have a particular disease, doesn't have an increased risk of developing the disease, or isn't a carrier of the disease. This is misleading. When a genetic test is done, a certain region of a gene is analyzed for a change in the DNA sequence. Previous studies will have already indicated a link between a specific SNP(s) to disease correlation. The region of the DNA that was tested may have come back negative, but that still doesn't mean a mutation hasn't occurred in that gene. There is a possibility that a mutation can occur in a region of a gene that puts a person at risk for developing the health condition they were tested negative for.

It is important to know the region that a mutation occurs in a gene. This is important information to know for clinical outcome because the region of the gene mutation can affect the function and folding of a protein and the drug interaction(s). For instance, a patient can test positive for a genetic test but the medicine has no affect on disease progression.

In a case like this, there is a likelihood that the gene mutation that is leading to the disease phenotype (if it even is a gene mutation) has occurred in a different region within the same gene or a different gene all together (and could also need dose adjustments). Knowing the region of the gene mutation can lead to better clinical treatment. Some personal genome companies market their tests so that at-home genetic tests can measure the risk of developing a particular disease, like heart disease, diabetes, or breast cancer. Most of these tests are developed after a single published finding. A genetic test should not be developed until after the previous findings have been replicated. It is also essential to know the population carrier rates and incidence rates to give accurate risk(s) of developing a condition.
I would like to use breast cancer to illustrate the above information. How does breast cancer occur?
- Hereditary
- Reproduction
- Hormone(s)
- Age and sex
- Environmental
- Diet

Guidelines for genetic testing and counseling:
• The population screened must have a significant burden of suffering
• Preventive intervention must be superior to conventional follow-up
• There must be an asymptomatic period during which the disease can be detected in the clinical setting
• Screening must be accurate during the asymptomatic period
• The screening test is acceptable to the patient Important information:
• There is no difference in specific rates of death among carriers and non carriers for a BRCA founder mutation. It is generally assumed that carriers of BRCA mutation have a higher risk of death, but studies have found this not to be the case.
• Ipsilateral disease has shown to have no increase rate of death for BRCA1 and BRCA2 founder mutations .
• There is no difference in the outcome after chemotherapy treatment among either BRCA1/2 mutations, but location of the mutation in BRCA1/2 has shown to affect chemotherapy treatment.
• The size of tumor, receptor type, and nodule presence does not affect mortality rate.
• The aggressiveness of tumor affects mortality rate, which is dependent on the type of genetic mutation.
• The specific survival rate is worse for BRCA1 mutation carriers then non-carriers, but not for BRCA2…the reasons for the differences are the incidence rate among the general population. • The tumor size is not a predictor for probability of death and advanced stage at diagnosis does not affect outcome.

It is important for a consumer to make sure they understand the benefits and limits of any test before undergoing the test. For a consumer that orders a genetic test from a personal genome company, do they know that the personal genome companies don't interpret the results? This leads to the consumer interpreting the test results. To my knowledge, no at-home genetic tests has been reviewed by the FDA.

This post was written by Jonathon Weber. Mr. Weber works as a Research Associate for Kromosoft. Mr. Weber is interested in wanting to become a genetic counselor.

The Sherpa Says:
While I agree with most of what Jonathon Weber has said. He too presents some old data and has some incorrect commentary. Despite this, he is very well versed for an recent Undergrad. He is an anomaly......But it is clear, there are some undergrads who appreciate the complexity of these tests. Too bad there are many Graduates who do not...

DNA Traits among the 13

I just finished emailing David Ewing Duncan (Who has a great new blog) about the frustration I have. You see, everyone is saying....these SNP tests are information/data, not really medicine. But I reminded him that there were 11 others named and letter sent. It turns out our friends at Wired show that a DTC genetic testing company was named. The cease and desist letter is clear enough.

So what is DNA Traits?
From the site

DNATraits was founded on one simple idea: if science can tell us whether we carry inheritable disorders, we have the right to know, for our own health and for the future of our families.
With years of experience in genotyping for large corporations and delivery of DNA-related information to hundreds of thousands of customers, a group of scientists and entrepreneurs formed DNATraits to lead a paradigm shift in the way DNA tests related to inherited traits are made available to the general public.

This is single gene testing and bundled packages of some valid tests. So why did they receive a letter? Simple, they sold tests online. Did they offer phone counseling? Absolutely....Free

So why did they receive a letter? They sold testing online without involvement of a physician. And no clinical lab license in California. This is why Ryan is so smart. She doesn't run labs!!! This is the hook guys. If you run a lab, then you have to meet some stringent criteria. If you are the middle man...you'll be ok. Provided you work with healthcare providers.

In addition, ASH is no longer endorsing thrombophilia testing. The genetic change and risk is minimal. The family history or medical history of clots is much more telling.

You will see, the other 11 failed to meet some serious issues. As we see more of the companies named we will begin to see that there are certain benchmarks required....have been for the last 20 years. This is not new regulation guys. Some lawyer for each company dropped the ball. Or, misinterpreted the laws. Take your pick.

I hope the journalists cover this, rather than hype the "Big Brother is Gonna Getcha" model.

The Sherpa Says:
I have no beef with the big 3's ideals. They took a brave step. Their lawyers were dead wrong. But, I do have a beef with anyone who says medical interpretation of tests to indicate risk is NOT medicine. It is. I have always said this and will stand my ground.

R'Uh-R'Oh Shaggy!!!

You know. I have been racking my brain why all of these "early adopters" kicking me on this blog have such an aversion to going to see a doctor. They claim that they want information, but I ask "How many of you know your cholesterol? How about your Systolic Blood Pressure? What about your family history of Heart Disease? What the hell is wrong with all of you. Those who say....."The government can't keep us away from our knowledge or data!" I challenge you to this.

Tell me you had a physical last year, tell me you know your LDL, tell me you know your family history. Then and ONLY then will I listen to your argument against regulation of knowledge. These bits of information will be much more prognostic of your health than a 1 million SNP scan.

That being said, these 13 companies are not just SNP testing companies. Some are pretty huge QUACKS!!! This is the point I am making. The Big 3 are just unlucky to have launched at a time when the government was looking to punish medical quackery. See Bayblab. They should have waited a year or 2 before launching. Then they would be safe. Unfortunately we have not been tending the ship at home. As such we have the upscale consumers.....not willing to take ANY genetic tests. That's why we regulate, to assure the public of quality. My focused friends at Wired have missed that because they are not talking about the quack tests out there....just the Big 3. The Big 3 are small time players in this game.....no offense Dietrich, but there are whole industries passing off nutrigenomic quackery making millions. Also to those impugning my ideals because of financial gain....beware. You don't know my business plan. I make NO money testing individuals.....I repeat I make NO money testing or NOT testing. This is to ensure that my patients TRUST me. To this effect.....

In a recent review by Burrill et.al. Houston, we may have a problem with those early adopters. They don't trust these tests!!!

From Genome Web Daily

The surveyors found that only five percent of consumers said that they were “very likely” to take a disease-specific genetic test in the next few years, and 15 percent said they would be “likely” to take one.

A total of 35 percent said that they would not submit to genetic tests, with 14 percent citing concerns about privacy, 5 percent saying they would not want to know about the results of their tests, and 16 percent saying both reasons would compel them to avoid genetic tests.

Although more than 50 percent of those who responded said that they are concerned about getting cancer or heart disease, only 4 percent of those said they had taken a genetic test for a particular disease. Two-thirds of those who did have a genetic test were advised to do so by a doctor.

The respondents had about the same comfort level of sharing genetic information with their spouses or partners as with their doctors, 72 percent and 71 percent respectively.

Only 22 percent of those who responded were comfortable with sharing results from genetic tests with institutions for research purposes, and almost none would give up that information to health insurance companies (3 percent), and even less to employers (2 percent) and prospective employers (1 percent).

From these findings, Burrill & Co. concluded that “makers of these tests might have more success penetrating the market by working through doctors rather than trying to make the case for their products directly to the consumer.”

The Sherpa Says:

Exactly...... It is all about trust

A$$ Kicking

Whoah! I never thought that my blog would generate such response! I received over 100 emails today. Guess what. In a near 50/50 split they were pro or anti regulation. Some were so nasty and hate filled I began to question why I was even blogging about this. Luckily, none threatened my pets or family! They even asked me whose side I was on. I think I have been pretty clear on this one. I am on the side of safe and effective personalized medicine. That's the only side to be on. I am FOR the Genomic Medicine revolution. I am against anything that will hinder its' development. Some of these fly by night companies have been doing just that for years now!

So I must sit back and look over the landscape. I knew this is where we were headed. Maybe we need a refresher course in history to understand why it did not start with 23andME, they were merely the straw that broke the camel's back.

1994

-Scientists isolate BRCA-1 Including my new friend Ken Offit

-JAMA publishes article on the psychological harm of genetic testing

-The Human Genome Project is in year 1

-The UN Draft articles stating:
Article 17 (Tests predictive of genetic disease)
Tests which are predictive of genetic diseases or that may identify a genetic
predisposition to a disease may only be performed for health purposes or for scientific
research linked to health purposes.

-The LA Times asks "Can We Know Too Much?"

-O.J. Simpson trial involved Genetic Testing

The results? Genetic testing is risky....

1995

-Enter Francis Collins Testimony to Senate Including him not endorsing BRCA testing YET! Awaiting further study validation!!!

-GINA is introduced in congress by Louise Slaughter, she heard what Francis had to say. Further validating the risks in genetic testing.

-The government creates TFGT, out of the Human Genome Project

1996

-ApoE testing is now commercially available, despite limitations in predictive capabilities.

-The New England Journal of Medicine validates the risks of genetic testing

Worried patients, encouraged by overly optimistic claims by researchers, biotechnology companies, and the media, may want to have genetic tests performed whose validity has not been established.

Truly Prescient!

1997

-NY Times exposes doctors shortcomings in interpreting Genetic Tests! Unfortunately, little has changed.

-Francis goes back to the Hill.

-NIH encourages CF screening for pregnant women.

-GATTACA Debuts! 4.3 million dollar weekend. The review? Older children with a taste for science fiction should find it intriguing.

-The Seattle Times cries for regulation of this fledgling industry. It's coming....in 11 years

-The European Convention on Human Rights and Biomedicine” convenes and article 12 states

Tests which are predictive of genetic diseases or which serve either to identify the subject as a carrier of a gene responsible for a disease or to detect a genetic predisposition susceptibility to a disease may be performed only for health purposes or for scientific research linked to health purposes, and subject to appropriate genetic counselling.”

1998

-President creates SACGT, The Secretary's Advisory Committee on Genetic Testing (Let the regs begin!!!)

So I am done doing blow by blow....

2001

-Psychiatric issues of Bad Results reinforced

-American College of Obstetrics and Gynecology endorses CF carrier screening for all pregnant women. Making carrier screening "Standard Medical Care"

2002

-Gene Watch UK advocates for regulations of nutrigenomic testing and bogus tests

-First Insurer to encourage coverage for genetic testing, AETNA. Too bad they don't pay for the counseling (Yet)

-JAMA sounds off on DTC genetic testing. Of Myriad

-UK and the BBC expose the bogus testing industry. And push for regulations.

-Despite all GI doctors taking family history only 30% knew there was genetic testing for Lynch Syndrome....sad

-Australian Medical Association reinforces genetic counseling with testing.

2003

-Ryan Phelan enters the field, with DNA Direct

-SACGHS is formed. It is much more expansive than just reviewing testing

-CLIA is needed for testing.

-The FDA says it needs fangs.. Asking the gov't for these teeth!

2004

-Amy Harmon (Now Pulitzer Prize winner) Starts covering the topic with DNA Age

-EU met and issued 25 recommendations regarding genetic testing INCLUDING Rec 8
the appropriate medical environment for providing information prior to
testing and relevant post-test counselling be in place prior to offering such
screening

-CDC holds their first short course on this genetic testing.

2005

-HFE testing for iron overload is doubted in NEJM. ONLY 20-30% of those with HFE genes develop Hemochromatosis. Genes aren't everything!

-Pew Trusts calls on stronger regulation by CMS. CLIA Complies

2006

-DNA Direct speaks at SACGHS, they are further convinced of the need for regulations.

-Kathy Hudson's group accuse the Federal Government of Neglect in regulations. Their back is now offically against the wall.

-The Genetic Alliance jumps on them too!

Ok, Maybe Not Done with Blow by Blow......

2007
-The Sherpa Starts Blogging! Day Zero for the blog. Year 13 for the Sherpa!

Who in their right mind would open genetic testing companies in this environment?

-Reykjavik Does....wisely avoiding the CLIA trap!

-BOOM! Google does too!

-Helix Health of Connecticut starts, quietly.

2008

-The following bogus DTC tests are available: Hair Loss, Sexual Mate, Bipolar Disorder I won't go on.

-Dept of Health and Human Services weighs in. With 276 pages Is that enough writing on the wall?

-Not enough, Navigenics then Launches. Party in SoHo anyone? Although the leak was evident in 2007

-NYS investigates and warns the "Big 3"

-CA sends cease and desist letters

Failure to regulate your own industry only gets you governmental regulation. Failure to investigate the past dooms you to the mistakes made in the past. I am still blown away about the lack of consideration for what the government can do and will do.

The Sherpa Says:

Since I got my a$$ kicked by some of my wonderful readers. I reassert. I am on the side of the Genomic Medicine Revolution. In the most ethical, responsible and effective way possible. End Of Story. I am about "Do What's Right!" My father taught me that a long time ago. Now you just saw what I see. That'll be 20k please ;)

Streets of Philadelphia

I want to point all of you to a comment on my blog. This is in regards to my post yesterday. I was accused of responding arrogantly. I don't think it is arrogance....I am just shocked and awed that some in the public think that they can do this on their own without professional help. Do you build your own home? What about fight your own court cases? Some do their own taxes...but only when it isn't complicated. Trust me, this IS COMPLICATED! Now on to the comments.

well, I am a geneticist (though not a human one) so I guess that makes me not a typical customer but I can only say that my experience talking genetics with MDs has been appalling.

I agree. Most physicians can make a hash of it. This does not mean that they do not understand the medical risk of those genes, just the mechanisms. I think we would do ourselves well by trying to teach these soon to be gate-keepers.

23andME and these other *dedicated* services do a much better job of explaining genetics - especially on a genomic scale - to people than doctors, who are only really comfortable prescribing antibiotics.

First off, what does he/she mean by genomic scale? Shouldn't we be focusing on a medical scale? Or how about a health and illness scale? This is where physicians could excel! I am certain 23andMe does a very nice job showing what they deem to be the correct risk prediction.

Secondly, your commment on the comfort level of physicians is appalling. This type of arrogance is what got similar persons into a whole heap of trouble with the government. Hanging in a lab is not practicing medicine my friend. Nor is discovering a novel pathway! Although both are needed for the progression of this. JUST LIKE GENOMIC MEDICINE IS. So how in the heck do you know what physicians feel comfortable doing? We apply the research, we assess risks and benefits every single day. Man, I am so pissed at your statement I am sick. Especially as I sit here reviewing SNP data for the meeting at Coriell. Where we will be applying research and evaluate the appropriateness of releasing these risk SNPs. Did you know that 9p21.3 is only applicable in certain populations? You wouldn't know that from the commercial upselling of this marker. "Confirmed in US and European populations"

the other anonymous is correct -- this is blatant rent seeking and will greatly harm the public interest.

Tell that to the SACGHS, Senate, House, 24 states that outlaw DTC testing, CDC, NIH, I could go on and on! Come on...rent seeking? This is regulation in the Public's interest!

People must be allowed to learn for themselves not be obliged to hand over money in fear to a vested interest only to be handed down "expert" judgements.

Isn't that what the companies are doing? There are a ton of experts selling tests that have no replication, no validation and no significant OR/RR.

association studies are going to be coming in faster and faster.

Just because they are coming in doesn't mean they are accurate...or applicable, or have clinical utility. Sorry.....

how often should I go back to my GP for another fee and another opinion?

This demonstrates your lack of knowledge about medicine. Ever been back to your PMD for a Blood Pressure Check? What about a yearly physical? How about follow up for an abnormal lab test? This IS what physicians do. This is so very telling!

the public might be lazy but they are not stupid. let them learn.

I agree. Start teaching the physicians AND the public. Step out of the lab and TEACH!!! As for that public.....less than 40% are barely health literate or even illiterate. Even well educated patients forget what medications they are on. In a recent study, 1 in 5 patients admitted for Heart Attack forget that they were started on a new medication, when called 2 weeks after their admission. So I ask you, how can we expect them to recall their SNPs or their risks, without ANY help!

We are meeting in Philadelphia to help. We aim to help the clinician, the patient and yes even the corporate genomics companies by demonstrating good due diligence in a group of experienced clinicians and scientists. I can't tell you about the panel yet. But once I get the ok, I will tell everyone about us.

The Sherpa Says: Well, I think we now know why the government had to lay down the hammer. This Geneticist demonstrated the dangers of thinking that medicine is stupid and that they know everything. I am not against patients and physicians learning about their genomes.....I am just against medical testing without healthcare involvement. When we release our reports, I will let you know.