Thursday, November 13, 2008
Family history misses cases......so what?
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Steve Murphy MD
at
4:09 AM
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Sunday, November 9, 2008
Burrill and Company Personalized Medicine Meeting
For all those people "In the Know" The Burrill Meeting is THE meeting to attend if you want to gain insight into the future of where Personalized Medicine is heading. Last year I was unable to attend but Wired had a good breakdown. This year is the 4th annual event and guess who is invited to speak........your friendly, neighborhood Gene Sherpa! I am blown away and extremely excited to be a part of this. Why???? Burrill knows where PM is at and where it will be.
Last year someone said
"Biomarkers, the genes, proteins, and other things that personalized medicine products measure, can initially appear to be strong signposts that forecast how a disease or treatment will work out, but many of the sophisticated scientific indicators prove worthless to doctors. Several of the panelists referred to markers that are truly useful and easy to identify as "low-hanging fruit", which seem to be rare commodities in the real world. "
Hmm.....I wonder if Kleiner thinks that way???? They should. This is where the puck is going to be for quite some time. I do think we will proceed to some higher level stuff including systems biology and physicians turning into genomics experts, but that will take some time. So while we are working towards that, let's not kill the goose for a few "golden eggs"
That is why the Burrill Meeting is so important, because industry will finally have the chance to discuss the barriers and investors will have the chance to hear about them....Putting Personalized Medicine into Perspective is key to guiding right investment, especially in this environment.
So do you want to know who's coming to dinner? How about the agenda?
Here are the Heavy Hitters/CEOs
Mari Baker CEO Navigenics
Linda Avey pulled out :(
Steve Burrill, no further explanation needed......it's his party!
Mike Christman CEO Coriell Institute for Medical Research and the CPMC!
Randy Scott CEO Genomic Health
John Sninsky VP Discovery Research Celera
Dean Sproles CEO Iverson Genetics Diagnostics......Dean is my age!!!
Timothy Thompson CEO Proventys (Ralph Snyderman's Baby)
Jeffrey Trent President T-Gen(Where Dietrich Stephan took sabbatical from)
Peter Vitulli CEO Sciona
Robert Wells, yes the founder of the Personalized Medicine Coalition
William Young CEO Monogram Biosciences
Now for the Physicians
William Wachsman Heme-Onc UCSD
Gary Vygantas Senior Associate Burrill
Eric Topol Cardiology Scripps, Yes. the original Maverick! This is the guy that motivated me to just do it!
LTC Alexander Stojadinovich, Surgeon, Walter Reed Hospital, USMCI. The Colonel is in the know, so follow or get the hell outta the way!
Bruce Quinn, Policy speciaist with a keen understanding of Medicare Billing and Coding
Franklyn Prendergast, He is Genomic Medicine at Mayo!!!!
Steven A.R. Murphy, Geneticst, Internist, Yale, the other Maverick, President Helix Health of Connecticut. Chief Medical Officer TotalDx.
Robert Monroe, Pathology, BioImagene
Asif Dhar, Deloitte Consulting
Susan Desmond-Hellmann, Genentech, Heme-Onc
All the rest of the fantastic speakers can be found here
Stay tuned for the coverage......I will be on the ground reporting from San Fran!!!
The Sherpa Says: Meetings like this energize the basecamp. Won't you come join the climb?
Posted by
Steve Murphy MD
at
7:09 AM
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comments
Saturday, November 8, 2008
God Bless Michael Crichton, Here Comes Google.
I want to take today and Sunday to reflect on the vision of a fantastic writer a true futurist and a wonderful physician. His Name is Michael Crichton MD. Yes true, he did write some fantastic books....but in each of them a true moral being told......
Just because we can do something, doesn't mean we should.....Even more importantly his stories revolved around those who make great discoveries and how they become corrupted by fame and avarice.
His words are most important in an age when everything is "Science" I actually see Michael reminding us of how we can't let, false science be pushed forward as truth. Never more is this evident than in the "Best Invention of 2008"
Today the Wall Street Journal agrees with my point.
You see, I have mentioned Dr Crichton several times in the past.....a Graduate of Harvard Medical School and a lover of science and medicine, he is quite a role model. From the WSJ...
A medical doctor by training, Crichton knew better than to treat scientists and technologists as a priestly class, immune from temptations of fame, profit or power........As a result, Crichton was sometimes accused of being a Luddite. In fact, he was a champion of good science, and never more so than in a 2003 lecture at Caltech, hilariously titled "Aliens Cause Global Warming."
I too have heard those words about my blog and my ideas. It is the unreasonable man who challenges "conventional wisdom" upon whom the world depends for change. Bad Science is no replacement for Lack of Truth....we must be very careful as we push forward advancing healthcare with technology and "science" We must be very sure that if we are to put something forward for patients that the benefits clearly outweigh the risks......And if we are to have no chance of healing we at least Do No Harm....
That was Dr Crichton's message. I am so very sad to see him pass......his 26 novels and numerous screenplays will be a forever reminder of how
"As the 20th century drew to a close," he warned, "the connection between hard scientific fact and public policy became increasingly elastic. In part this was possible because of the complacency of the scientific profession; in part because of the lack of good science education among the public; in part because of the rise of specialized advocacy groups which have been enormously effective in getting publicity and shaping policy; and in great part because of the decline of the media as an independent assessor of fact."
This is why I formed HelixGene with Drew Y, This is why we started Helix Health of Connecticut, This is why we volunteer to teach Genetics to High School Students, This is why we always have to remember that "Bad Science is no replacement for absence of evidence"
I see the storm clouds rising, people looking to make healthcare efficient, people who didn't study the biological sciences....instead they chose computer science.....I just hope and pray we can demonstrate that science can be just as bad as poor programming.......
Need further proof they are coming? From the WSJ....Bret Swanson
On health care, let's face facts. We are not going to "solve" the entitlements crisis by gouging American producers to pay for the current Medicare/Medicaid abomination. Much better to transcend the issue with medical innovations and an entrepreneurial, consumer-driven market where more physicians go into medical technology, more nurses replace doctors, more technologies replace doctor visits, and, with properly-aligned incentives and real prices, more citizens take better care of their own health and thus their pocket books. The only way to escape current predictions of scarcity is the unforeseen abundance that entrepreneurship can bring
The Sherpa Says: Technology is not Science...it is not even bad science......it just is....and when you pair that with Bad Science....well, then you have some problems.......Oh Michael we need you now more than ever......
Posted by
Steve Murphy MD
at
11:14 AM
1 comments
Labels: charlie rose, DNA, Helix Health of Connecticut, helixgene, jurassic park, michael crichton, next, totaldx
Thursday, November 6, 2008
Nature is so Wrong!
Nils over at SciPhu has decided to stop posting about DTC and his stance. Why would such a great scientist/blogger decide enough is enough? Nature made him do it...Huh? Yes Nature and its eloquent arguments about personal genomics......
It is virtually impossible to conceive of a sustainable form of healthcare that operates as the current systems in industrialized nations do. At present, healthcare is based on the late diagnosis of disease and the division of diseases into a few categories based on some overarching gross similarities. And it firmly places physicians as the central gatekeepers of information.
The healthcare of the future, on the other hand, if the technical potential to provide personalized medicine is ever to be realized, will probably require a greatly expanded emphasis on diagnosis and monitoring, early and subtle intervention, monitoring of the impact of intervention, and gradual adaptation of treatment with the evolving physiology, metabolism and lifestyle of the individual.
Faced with this huge expansion of data on ‘my’ health, it will simply not be affordable to maintain our dependence on medical gatekeepers, whether they are physicians or genetic counselors, without individuals taking a much greater responsibility for their own wellbeing. Whether the medical establishment likes it or not, it will be too cumbersome and too expensive to conduct personalized medicine if all diagnostic-to-therapeutic decisions depend on doctors.
Posted by
Steve Murphy MD
at
7:32 AM
3
comments
Labels: 23 and me, deCode, deCODEme, Helix Health of Connecticut, nature genetics, nature journal, navigenics
Wednesday, November 5, 2008
Genetic Test or Family History? Which Matters More?
To evaluate the effect of the genetic risk information source (family history vs genetic test results) on parents’ concern about their own and their children’s genetic disease risk.
Parents first received a vignette about their hypothetical genetic risk, randomized as either a family history assessment or genetic test results. Next, parents received a vignette about their youngest child’s hypothetical genetic risk, similarly randomized.
Imagine that you have family members with a disease that causes severe symptoms in adults. Having this “family history” means that (you/your youngest child) has a 30% chance of developing this disease. A 30% chance means that 3 out of 10 people will develop the disease.
“How concerned are you that (you/your child) might develop this disease?”
Imagine that (you/your youngest child)gets a genetic test result that says he/she has a 30% chance of developing a disease with severe symptoms in adults. A 30% chance means that 3 out of 10 people will develop the disease. “How concerned are you that (you/your child) might develop this disease?”
Parents were more likely (twice as likely) to be concerned about their own disease risk when
the risk estimate came from a family history assessment vs a genetic test result (odds ratio, 1.96; 95% confidence interval, 1.44-2.68).
Positive family history of disease generated greater concern about parents’ own risk of inherited
disease than did genetic test results.
Posted by
Steve Murphy MD
at
9:12 AM
2
comments
Labels: 23 and me, barack obama, burrill and company, coriell, deCode, Helix Health of Connecticut, navigenics
President Obama and the Genome
Posted by
Steve Murphy MD
at
4:18 AM
1 comments
Tuesday, November 4, 2008
Daniel Ballon Off Course with DTC testing!
Don't believe me......look at the last month and the SNPs in 9p21 a region argued that is highly linked to heart attack.
1. linked to Irish heart disease
2. Failed to replicate in the Dutch
4. Now linked to Alzheimer's Disease if you believe it........
So which is correct? More importantly.....will testing this help us risk stratify any better? Will it help us treat any better? Will it help prevent disease? None of these questions have been answered scientifically yet.....Not a single one! No where is this mentioned in regards to validity, accuracy or reliability....yet these reports include risk assessments...based on these SNPs!!!!
Posted by
Steve Murphy MD
at
2:25 AM
1 comments
Labels: 23 and me, barack obama, coriell, deCode, Helix Health of Connecticut, john mccain, navigenics, newt gingrich



