I received an email from a colleague that said..."interesting.....click here."
Ok, so to anyone surfing on the internet probably not a good thing to do right? My friend likely has a virus on his cpu, right? Well, being the avid risk taker I am...I click. Guess what I find.
A blog called the Belligerati...interesting name, but the blog has argument is all wrong.
"Many will see the headline Congress Passes Bill to Bar Bias Based on Genes and be pleased.
The legislation, known as the Genetic Information Nondiscrimination Act, prohibits health insurance companies from using genetic information to deny benefits or raise premiums for individual policies. (It is already illegal to exclude individuals from a group plan because of their genetic profile.)
Employers who use genetic information to make decisions about hiring, firing or compensation could be fined as much as $300,000 for each violation.
The blogger then goes on to detail why they think it is a bad thing. The major argument and one I have been seeing a lot of lately is based on pure fallacy and demonstrates how a very smart and educated person can be completely illiterate in genetics and genomics. I would say that about 10% of the population understands genetic risk when explained to them....that's about it.
From the blog:
There are many forms of luck in our society that we allow people to capitalize upon. For example, citizens keep the majority of the returns from wealthier parents, natural talents, being born into a rich and free society, their appearance, and temperament. Yet congress has passed a law that says that people may not capitalize upon their generic luck. This makes us less free, and ultimately less wealthy as well.
Genetics as luck....interesting. Perhaps they don't know that most heritable genetic changes are for the bad. Mistaken concept 1, in addition, Genotype + Environment = Phenome.
What sense of justice legitimizes forcing those who are poor but blessed with rich genetic endowment of healthy genes subsidize those that are middle class and endowed with a genetic propensity for several diseases? As I have said before on this blog, the way (the just way, if any) to address the suffering in our society is to give money to the poor. These back door methods, like this genetic non-discrimination rule, are often more unfair then the ills they prevent
This is super Bass-Ackwards. What sense of justice forces those with no control of their poor genetic make up to be excluded from health insurance....Man...this blogger is crazy.
His argument is that by genetic testing we should benefit from our "protective genetic make-up" and that GINA will prevent us from doing this.....
The second concept I want to clear up for everyone is this. "We can test for healthy genetic variation".....Let's get this straight. We know very little about the genes in our bodies that are protecting us from crappy environment. Eric Topol talks about this. For a cardiologist, this guy has done a great job of becoming a genetics Hacker! He says we should study the healthy, not the ill. I think he is right.
The third concept......we understand what genetic changes cause common disease. Let's get a clue. We know that several genetic changes have been weakly linked to (to be read as associated, not causative) common diseases. We also know of some very strong monogenic links to diseases like cancer and heart disease. But these are not the most common.
Francis Collins says "Everyone has at least 5 or 6 genetic time bombs in their genomes"
From the guy who headed the HGP....I'll take it at face value. We will only know this for sure by doing whole genome scans on everyone. By whole genome, I don't mean these chips that "claim to be whole genome" I mean, base by base, methylation by methylation, histone change by histone change, genome sequencing.
So if that is the case....why should insurers test for something that no one knows is a risk or protective allele. To them, it makes no sense to have meaningless data. But to have accurate tests for actuarial evaluation. That would be most worthwhile. My guess is that if they were to use this unvalidated and suspect data that everyone would be getting higher rates. So this argument from the Belligerati demonstrates the lack of genetic knowledge even in the most sophisticated and educated public.
There are other arguments against GINA. But I say, right now it is the best start we have at protecting our citizenry.
"GINA is the first major new civil rights bill of the new century," said Senator Edward Kennedy (D-MA), who cosponsored GINA in the Senate with Senator Olympia Snowe (R-ME). "Discrimination in health insurance and the fear of potential discrimination threaten both society's ability to use new genetic technologies to improve human health and the ability to conduct the very research we need to understand, treat, and prevent genetic disease," said Kennedy
I agree wholeheartedly. With so many people having at risk alleles.....in these SNP studies at least 1 % of the population has to carry these SNPs....That means 3 million people at a minimum are at risk of one thing or another. Genetic Discirimination is the new racism.....I hope not to see its ugly head rear for a very long time.
The Sherpa Says:
Confusion and misinformation can lead to making poor choices. That is why I advocate for education and guidance in the field of genomic medicine. How can we expect even the most sophisticated population to understand this on their own? It tooks me years of study to be where I am. And I learn something new every day! That's why we are going to launch a brand new wave of education and service shortly......
Wednesday, July 30, 2008
I received an email from a colleague that said..."interesting.....click here."
Tuesday, July 29, 2008
When I open medical news today, I read this headline
"Brain Differences Visible In Symptomless Carriers Of Alzheimer's Gene"
Sounds fantastic right? Well........
It turns out that the n on this study was 12...that's right. 12 patients with APOE e4 and 16 controls. To my friends at AlzMirror, this might be right up your ally. Buy an fMRI machine and blammo, Wharton School of Business winner all the way!
This finding needs serious rounds of replication. What were the confounding factors? Prior stroke? Cholesterol level? Amyloid burden..........etc.
They scanned these patients and in the ApoE e4 carriers they found reduced connections......
No mention of statistically significant findings mind you. Just a finding. Why it leads Medical News Today, I have no clue. It is, frankly, a finding and should never lead a site of that quality. Which is why, I have to say....they need some more sites which could actually properly rate articles and findings reported.
If you look at the article. 1 person rated it 5 stars. I doubt it was a physician. At least I hope not. IMHO this article is a 1-2 star article. I wonder why their isn't a better way to report this stuff and have it pushed down or up the list according to scientific merit and relevance. It shoudl be done at an hourly rate....and not be ranked until at least 5 people have voted. How's that for scientifically valid???
The Sherpa Says:
With articles like this and no counter point...it certainly makes the public easy pickins for bogus over hyped, over marketed, "healthcare" companies....... Especially given the lack of health literacy out there. 40% give or take 10% in the worse.
Posted by Steve Murphy MD at 4:39 PM
Monday, July 28, 2008
Sorry about that. I have been busy writing a book that will hit to store shelves in a couple of months. Here's an excerpt................... "If you were looking for a college level description of personalized medicine, buy another book." As I write the book, I include the raging debates......
Posted by Steve Murphy MD at 3:08 AM
Tuesday, July 22, 2008
There is an age old adage in medicine "You miss 100% of all disease X that you don't look for" It is stolen from an old golf adage that you miss 100% of all putts that you leave short. Big surprise, doctors stealing golf lines.
1. Clevers H, Colon cancer--understanding how NSAIDs work. N Engl J Med. 2006;354:761-763.
2. Eaden JA, Abrams KR, Mayberry JF. The risk of colorectal cancer in ulcerative colitis: a meta-analysis. Gut. 2001;48:526-535.
3. Canavan C, Abrams KR, Mayberry J. Meta-analysis: colorectal and small bowel cancer risk in patients with Crohn's disease. Aliment Pharmacol Ther. 2006;23:1097-1104.
4. Jess T, Gamborg M, Matzen P, Munkholm P, Sorensen T. Increased risk of intestinal cancer in Crohn's disease: a meta-analysis of population-based cohort studies. Am J Gastroenterol. 2005;100:2724-2729.
5. Ekbom A, Helmick C, Zack M, Adami HO. Ulcerative colitis and colorectal cancer. A population-based study. N Engl J Med. 1990;323:1228-1233.
6. Winther KV, Jess T, Langholz E, Munkholm P, Binder V. Long-term risk of cancer in ulcerative colitis: a population-based cohort study from Copenhagen County. Clin Gastroenterol Hepatol. 2004;2:1088-1095.
7. Jess T, Loftus EV Jr, Velayos FS, et al. Risk of intestinal cancer in inflammatory bowel disease: a population-based study from Olmsted County, Minnesota. Gastroenterology. 2006;130:1039-1046.
Monday, July 21, 2008
Daniel at Genetic-Future asks "Which baby do you want? A dilemma for the 21st century parent-to-be"
There is a lovely recap of an article from Nature News.....from Daniel's blog,
Nature News has an intriguing article on the next three decades of reproductive medicine: essentially a series of short musings from scientists working in the field about the issues we will be facing in 30 year's time.
I would say we are facing issues with this technology today. I just saw an IVF baby without a large intestine. I brought up an issue here that is not so well tracked or publicized. I mentioned in the comments that there is evidence of increased risks of birth defects and epigenetic changes that include overgrowth syndromes......But what I found out a few days ago sent chills up my spine. It turns out my institution's REI group is not tracking these "congential anomalies" as part of due process......not good. At least someone is...
What is the evidence for or against?
- Here is a nice review....preimplantation and risk to epigenetic modification.
- A nice n=1 review of the promise of PGD for aneuploidy.
- Increase in genetic mutations after ART with normal sperm
- ICSI not so good.
- A Great NEJM review that is a must read! This one is good too.
- Not just risky for the baby. The mother is at risk too.
The Sherpa Says:
These were the highlights when I pubmed searched IVF and congenital outcomes.....There are many more indicating the risks. I wonder if all patients are properly counselled about these things? Which baby will you choose? Great question....I don't have the answer. But it seems to me, neither do the REI specialists......
Saturday, July 19, 2008
Did anyone get to see George Church's love article in Wired. I am at a point here where I begin to truly appreciate what he is doing. This article gave me some insight. You fight and fight with people about this....I think he has some merit. I think that the algorithms to assess family history risk should be open source.....I think the computational side should absolutely be free. Do I think that it could be open source....yes. Do I think that VC want it open source?
No. But it would be grand if it were. As for the data-mining as open source.....well, perhaps George still is 20 years ahead of his time. People are too afraid for this part. That is why I think getting 100,000 people without offering them healthcare could be tricky. Getting 100k without HIPAA could be tricky too. But unlike the commercial efforts, I admire George for getting Harvard's IRB review. Now what he needs is an ICOB like the Coriell Personalized Medicine Project.
Here's what I envision......NEXT.....did anyone read that book?
In the Author’s Note, Crichton comments on some serious issues.
1. Stop patenting genes. This may never happen fully
2. Establish clear guidelines for the use of human tissues.
3. Pass laws to ensure that data about gene testing is made public. Meaning results of gene therapy trials.
4. Avoid bans on research.
5. Rescind the Bayh-Dole Act (that allows universities to patent and make money off their research).
I am reminded of this as George's lab is creating stem cells from the fibroblasts in each participant's skin cells. This could be very attractive for each participant, but I am brought back to the opening scene of NEXT when in that scene a postdoc is running to commit corporate espionage by trading some stem cells that were developed in a University lab for a bundle of cash. Only to be done in by a Russian Prostitute and some Nitrogen.
Another story gets me,
The tale of a man who carries a gene that is apparently no longer his own property, having been patented by a biotech company in an extension of eminent domain that boggles the mind. But not when put in the light of the PGP and Dr Church. George would have this gene as open source.....a nice idea. But what about when the Harvard endowment rears its ugly head??? Who gets that stuff then?
“Next” draws upon a courtroom case in which U.C.L.A. was accused of covertly using tissue from a leukemia patient to develop and patent a lucrative cell line; the court ruled that the man had no property rights to his discarded tissue, and that the university, as a government institution, could claim this material under the doctrine of eminent domain.
I have fallen in appreciation with Dr Church again. After fighting with Jason at Personal Genome, I never thought I would. But after reading the Wired article I have all over again. Why? Because when he fell in love with code at 9, I fell in love with DNA at 8. That's all it took.
You go George! I love the opening pic, too bad you are on the back pages of Wired. I would have had you lead instead of that beautifully vapid(maybe not so vapid) Julia Allison. But I am certain she pulls off the high heels better than Dr Church would.
Tomorrow, I will cover
Tony Snow and colon cancer..... If his PMD didn't test him for HNPCC, it wouldn't be a surprise. But it would be a huge miss.......
The Sherpa Says:
We are entering the NEXT phase of genetics and genomics, SNP testing was only the beginning. There are many more things we will discover and many more things that will have even greater clinical applicability. George is helping ramp that up. Me Too......
Posted by Steve Murphy MD at 7:25 AM
Wednesday, July 16, 2008
True understanding only comes through the student actively constructing their own understanding through a process of mentally building on their prior thinking and knowledge through “effortful study”.(2) This construction of learning is dependent on the epistemologies and beliefs they bring to the subject and these are readily affected (positively or negatively) by instructional practices.(3,4) Furthermore, we know that expert competence is made up of several features. (1,2)
Posted by Steve Murphy MD at 12:41 PM
Tuesday, July 15, 2008
"Nonviolent delinquency includes stealing amounts larger or smaller than $50, breaking and entering, and selling drugs,"
And a certain mutation in DRD2 seemed to set off a young man if he did not have regular meals with his family.
"But if people with the same gene have a parent who has regular meals with them, then the risk is gone," Guo said.
I was reading some peer review comments of an article I am submitting and it got me thinking.....How can we combat certain resistant to change mindsets? For example from the anonymized reviewer:
I strongly disagree that because there aren't currently sufficient numbers of genetics providers (even if you add up clinical geneticists and genetic counselors, as suggested above) that this means that the only solution is to move genetics into primary care. ...........
Ok, you can disagree.....but.....when you say this......
First of all, the demand for genetics services has not yet led to long waiting periods or other crises.
Ever tried to get into a cancer genetics or clinical genetics office in less than 1 month? More likely less than 3 months. That being said...even this reviewer acknowledged that there is not a massive amount of referrals.......
Ahh....trade secrets that I will be publishing soon......
What number of trained genetics providers are needed and what are the barriers to educating, producing and hiring more and supporting their work?
Can the authors imagine another group of specialists (for example, brain surgeons) deciding that there aren't enough knowledgeable brain surgeons, so primary care providers need to be trained (via a short course, perhaps) to do brain surgery?
The term is Neurosurgeon....and this argument is a fallacy..... They trained for 7 years and brain surgeons don't operate on Alzhemier's
I think statements about moving genetics into the primary care arena need to be much more carefully thought through and evaluated -- what are the outcomes likely to be associated with the suggested interventions??
Other than earlier pick ups in cancer predisposition, MI predisposition, adverse drug reactions, improved medication dosing, more cost effective utilization of care, less "loss of chance" malpractice....I could go on and on.....but I won't
The Sherpa Says:
This is the resistance we face ladies and gentlemen. Why do I have to learn something, just because there aren't enough specialists???? There is something called continuing medical education.......just because they didn't discover DNA when you were in medical school, doesn't mean you don't have to learn about it........Resistance is Futile....
Monday, July 14, 2008
Results: Nationally, 60% of primary care physicians have ordered a genetic test and 74% have referred a patient for genetic testing.
Conclusions: Reduced utilization of genetic tests/referrals among minority-serving physicians emphasizes the importance of tracking the diffusion of genomic medicine and assessing the potential impact on health disparities.
Thursday, July 10, 2008
Tuesday, July 8, 2008
You know you are in for a grilling when the SACGHS says......"While we laud you for coming to participate in the conversation, part of that participation means that you may not like what you hear(More or less quoted from the webcast)"
Then in an "Interesting" Move.......
They ask "Would you be willing to sacrifice your bottom line to offer these services at say 100 USD?"
Wha???? This is such a crazy question.....This Assumes that the data they are presenting is valid, actionable and worthwhile....... All of which.....are debatable...AND that the public would want such services....
What am I talking about? I am talking about the opening of the 30 minute interrogation that was the end of the SACGHS meeting
They even asked the question "Do you have an IRB for all this 'research?'"
The response.................."We're workin on it"
Well, not really the end.....That was reserved for clean up hitter Kathy Hudson...(Whom, BTW I think is brilliant)
Her slide set covers some very key issues and the presentation did as well....
She even manages to quote Joseph Schumpeter, elegantly...
Schumpeter thought that the institution enabling the entrepreneur to purchase the resources needed to realize his or her vision was a well-developed capitalist financial system, including a whole range of institutions for granting credit.
This is very true, but what she quoted him on was this....
“process of industrial mutation that incessantly revolutionizes the economic structure from within, incessantly destroying the old one, incessantly creating a new one.
When looking at the concerns, this slide explained them pretty well
Concerns About DTC Marketing
• Consumers can’t understand genetic information; it is complicated.
•Consumers vulnerable to exaggerated claims.
•Consumers may get tested without adequately considering consequences to themselves and family
•Consumers may forego standard treatments or make dietary or lifestyle changes without proven benefit
• Consumers may seek and receive unneeded and costly care
Companies may not adequately protect privacy of genetic information
•The tests that are offered may not be valid
• The laboratories that perform the tests may not be competent
• Test claims unsupported by evidence
• Inadequate protections for research participants
•No legal barrier to surreptitious testing of another
She Says the Options are
- Let the Buyer beware
- Demand transparency: information as
- Require third party review of accuracy
- Take action against false claims
- Create a category of OTC LDTs
- Expand HIPAA
- Expand common rule
I personally think there are many more...And I am workin on that!
The Sherpa Says:
When speaking anonymously with a panelist they said...."It was surprisingly tame" When speaking anonymously with SACGHS attendees they said "This spells the end of unregulated DTC" So it sounds to me like the 2 sides may be engaged in a conversation where no one is listening to each other.......Or the may not be communicating effectively......
I hope all of my readers get the GenomeWeb Daily News.
The specific clusters the task force will look into in the coming months include
- the need to develop more evidence for personalized medicine;
- training and education of health professionals in genetics and genomics;
- evidence-based guidelines for genetic technologies;
- coverage and reimbursement for genetic services;
- Medicare and Medicaid reimbursement for DNA tests
- genetics and health disparities among minorities.
This all spells disaster for DTC tests that costs as much as a night at the Burj Al Arab, especially those with little evidence (where the paper count is n=1.5)
The three words that jump out at me.....evidence, evidence and educate.......maybe there's something to that...
The Sherpa Says:
If you think the US is bad....did you hear about the UK's governmental push to shut DTC genetic testing down??? It is going to be a long road here.....all because of a few bad apples....and a few people looking to practice medicine without a license....Most of these companies have great people working for them or with them. They could do very well in this regulated environment.........the companies just need a little redirection, that's all..
Posted by Steve Murphy MD at 4:19 AM
Monday, July 7, 2008
Thursday, July 3, 2008
Does anyone read the WSJ Health Blog? I do....everyone should.
In a post yesterday they say
Doctors and pharmaceutical companies have been getting beat up lately for their intimate ties (see here, here and here). Now Pfizer is backing off a bit from one of its connections to medical practice: funding for physicians’ continuing medical education, or CME, courses.
“The reason we’re not going to directly support them has to do with mitigating the perception of a conflict of interest, if a direct payment is going from a company like Pfizer to them,” Cathryn Clary, VP of US external medical affairs, told Dow Jones Newswires.
Ahh, the ol' conflict of interests argument. Why do they get hit with that, but the Nephrologist teaching residents does not get hit with that? Here is why?
Hippocrates asks all of us to teach those who wish to learn.....Did he understand that creating doctors did not create competition? I think so. In fact........educating physicians does not create competition...it creates market share.
This is why I am not surprised by Pfizer's stance....interestingly enough...
The drug maker has decided to end payments for CME are provided by for-profit, third-party companies. It will continue funding courses offered by academic medical centers, teaching hospitals and medical societies.
What makes me laugh is that the 3rd parties are probably making less off of CMEs than the huge academic Behoemeth's like Harvard........
In fact the Genetic Basis of Adult Disease course is well attended and the course costs a whopping 650 USD....but the course may fall to the wayside! Why? They cannot meet budget.....My guess is that the institution gets a huge vig for any CME course....leaving the directors with little to work with in budget.....Just a hunch...
So.....there you have it....Pfizer openly acknowledging that providing CMEs to doctors is a conflict of interests.......I wonder if any of the genetic testing businesses have thought about that? Do you think Myriad will pull back its sponsorships? What about us at Helix? Nawh...we're physicians remember.....so I guess we are exempt.....sort of.
I wonder what the other corporate testing companies will do to respond to that? Do they even plan on doing CMEs? (I took the 5 question Navigenics test for CMEs....) Hopefully, they will prepare a defense to the argument which Pfizer has heard over the last 20 years......or maybe they will heed Pfizer and not get into the education business at all...
The Sherpa Says:
The physicians at Helix Health of Connecticut will always do their utmost to teach the public and other physicians....regardless of the "Conflict of Interests" Why? Patient care is in all of our interests.
Posted by Steve Murphy MD at 10:07 AM
Wednesday, July 2, 2008
I wanted to tell everyone about what the Wellcome Trust has been doing. Aside from their new commitment to 90,000 genomes, they now have reached the 1 terabase.
That is.... the staggering total of 1,000,000,000,000 letters of genetic code that will be read by researchers worldwide.
From Medical News Today
The amount of data is remarkable: every two minutes, the Institute produces as much sequence as was deposited in the first five years of the international DNA sequence databases, which started in 1982. It is a global milestone.
This is tremendously important as we begin to start databasing terabases......How much informatics and storage will we need. This issue has been covered excellently by
Daniel at Genetic-Future
Drew at Think Gene
Yann at His Blog
The debate goes on.......
The bottom line....to store the data you need AND to analyze it takes some serious cashola!!!
Not to be exaggerating, but the 1000 genomes project is getting moving....
"The 1000 Genomes Project is exploring the genome at a resolution nobody has attempted before," says Dr Richard Durbin, who co-heads the Project. "Our goals are ambitious and all of us are still learning, but we can already see that, through the efforts of the Sanger Institute and our partners in the consortium, the results will have a major impact on our understanding of human genetics and disease."
The Sherpa Says:
All that is fine and dandy.....but what use is it without phenomes and family history data???? You need Trios, You need cohorts over years......this is nice, but it is only the first steps..
Posted by Steve Murphy MD at 10:32 AM