Monday, June 30, 2008
Posted by Steve Murphy MD at 5:56 AM
Thursday, June 26, 2008
Jonathan Freed, Chief Community OfficerHelix Health of Connecticut, PLLC(888) 584-8999(212) 918-9394 fax firstname.lastname@example.org or visit our website http://www.helixhealthofconnecticut.org/
One in four patients who receive anticoagulant therapy (warfarin) experience bleeding events.
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
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.
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?
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.
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/
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.
Wednesday, June 25, 2008
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
Posted by Steve Murphy MD at 5:04 AM
Tuesday, June 24, 2008
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.....
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 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......
Monday, June 23, 2008
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.
Saturday, June 21, 2008
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.
Friday, June 20, 2008
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?
- Age and sex
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...
Posted by Steve Murphy MD at 3:48 PM
Thursday, June 19, 2008
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.
Tuesday, June 17, 2008
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.
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.....
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.”
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 appropriate medical environment for providing information prior to
testing and relevant post-test counselling be in place prior to offering such
-The Sherpa Starts Blogging! Day Zero for the blog. Year 13 for the Sherpa!
Monday, June 16, 2008
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.