Posts Tagged ‘Genomics’
Report from AMIA – All Diseases will become Orphan
March 12, 2011
The first speaker I heard at the American Medical Informatics Joint Summit was Kenneth Buetow from the National Cancer Institute. In his typical provocative manner, he challenged the audience on the transition day from the Translational Bioinformatics to the Clinical Research Informatics Summits. He began with promoting the P4 Medicine as the new model for healthcare: personalized, predictive, preemptive, participatory. Although throughout the conference little was articulated on the participatory aspects with one exception. More on that later.
Buetow talked about defining cancer on the molecular level and the challenge of the exponential number of patients required to do genetic screening for a single disease. He referred to Pharma 3.0 from the Ernst and Young report on Progressions 2011 where patient engagement through social media as necessary in this new age of medicine. It is here that he stated, “All diseases will become orphans” meaning that as we understand more about genomics and are able to combine these findings with clinical data, we will understand each disease process on a truly personalized level and hopefully treat it as such.
As part of Pharma 3.0 and a new model for medicine, he did note some encouraging trends in volunteers for clinical trials, true patient activism in a full participatory sense. Specifically, he reported some recent statistics from Army of Women, a joint project of Avon and Susan Love to recruit an army of those willing to volunteer for research studies. Rapid recruitment occurred consistently for studies through this resource while traditional clinical trials continue to suffer from lack of full enrollment. He also referred to adaptive clinical trials as part of this new model. Finally, he discussed the Translatable Informatics Ecosystem as a way of describing how informatics will be key in this new paradigm using Services-Aware Interoperability Framework (SAIF) as one technology to reach that goal.
Many of the presentations at this year’s conference were focussed on data warehouses of clinical and genomic data and ontology development and application include many efforts in the semantic space.
Several speakers referred to Evidence Based Medicine, Personalized Medicine and the Learning Healthcare System implying if not explicitly stating that there is a convergence of the future of medicine and that medical informatics and clinical research informatics are at the center of this convergence. Bill Hersch, noting the explosion of data both in journals and through EHRs and others sources, citing Stead on the need for “Systems of Brains” to manage the amount of information now available
All agreed that Medical Informatics is at a crossroads and has the opportunity to take leadership in the future of medicine, managing the data explosion and making it managable in the personalized medicine era we are entering.
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Innovation Summit – Obesity, Diabetes & the Metabolic Crisis
November 2, 2010
This week I attended the Cleveland Clinic Innovation Summit and contributed to the live tweeting of the event. There was substantial discussion of devices in the pipeline and drugs for diabetes but a less optimistic outlook on drugs for obesity with some being shut down by the FDA. The most scientific yet controversial presenter was JefferyFriedman, who referred to his 2009 Newsweek article on “The Real Cause of Obesity” as a summary of his position that most of obesity is genetically determined. Many referred to the recent prediction posted by the CDC that the current incidence of diabetes being around 10% of the population with the potential of growing to 20 – 30% by 2050.
At the end of day two, the annual announcement of Top 10 Innovations. The final day will include health IT interventions for obesity and diabetes.
Share this:P4 Medicine – Revolutionizing Healthcare?
September 9, 2010
I attended a presentation by Leroy Hood of the Institute for Systems Biology today on P4 Medicine. The 4 Ps are:
- Prediction
- Prevention
- Personalized
- Participatory
In the presentation, he demonstrated studies (in mice) of looking at the complete process of illness: genotype, phenotype including biological networks and molecular machines. He is even examining the organ specific blood footprints and miRNA as markers of disease progression.
He predicts that in the future there will be a virtual cloud of data points for each person, billions of data points for billions of people, and that healthcare IT must prepare to address this.
The real core of something like P4 is prediction. The complexity of achieving this level of analysis for many diseases is a challenge. One audience member questioned why the promise of P4 medicine is more likely to provide cures that the promise of decoding the human genome which came with such promise a decade ago. It is difficult to find a good critique of P4 Medicine to balance the pure optimism of Dr. Hood. At any rate, P4 Medicine and Personalized Medicine are trends to watch with tempered optimism.
Below are slides from a presentation by Leroy Hood at Ohio State University where he will speak in October.
Decision Tree and the Quantified Self
February 15, 2010
The article in Wired on Decision Trees and the new book also by Thomas Goetz has generated a greater interest in participatory medicine and quantifying one’s life and health.
The title of the first chapter says it all: Living by the Numbers – How alot of science and a little self awareness can give you control of your health.
Brian Ahier addresses these issues as well in his post on “Data Not Drugs: Taking Control of Your Health in the Age of Genetics.” While pointing out the host of tools available to manage your health, everything from WolframAlpha to GetUpAndMove, he discusses earlier adopters who will lead the way, knowing not only their genetic risk but also quantifiy their daily health status. He notes that with few blockbuster drugs in the pipeline, perhaps this is the future of healthcare. Can the quantified self, enabled by health promotional tools which get easier to use each day, have a larger impact on health than the next lipitor?
Share this:How Would Genetic Testing Change Your LIfe
October 14, 2008
Enoch Choi has posted an insightful piece about the announcement by Scripps, Navigetics and Microsoft about a project to test 10,000 people who have a genetic profile done and the impact on their behavior. Enoch talks about his own experience with Navigetics and the impact on his health behavior.
“Sponsored by Scripps Translational Science Institute (STSI), the study aims to find out if participating in personal genomic testing will improve health by motivating people to make positive lifestyle changes, such as exercising, eating healthy and quitting smoking, as well as decisions to seek further medical evaluation and preventive strategies. The study will offer genetic scans to up to 10,000 employees, family members and friends of the nonprofit Scripps Health system in San Diego and will assess changes in participants’ behaviors over a 20-year period.”
It is interesting that they are using employees and family members. One wonders what kind of privacy protections will be put in place. Also, this is one of the first long term studies – I look forward to interim reports thoughout the next several years.
Share this:The US medical system should be…
October 1, 2008
In a short article from Wired Magazine, a unique perspective on health care reform from geneticist, Leroy Hood. He presents the 4 P’s: Health care should be
- Predictive – he says Using genome sequencing and blood tests
- Preventive – based on an individual risk profile
- Personalized – drug therapies can be created to suit each genome
- Participatory – People will maintain their own health (aka, Health 2.0)
Looks pretty simple but I not sure genomics can solve it all. The psychological toll of knowing your risk profile may be too much of a burden to bear for those with risks of life threatening illness without good treatments.
Share this:Two Family History sites
August 13, 2008
The US government is providing a site to track your family history – soon to be essential in the coming age of genomics and genetics, https://familyhistory.hhs.gov/. There is also a commercial site, MyFamilyHistory, which provides some of the same services. This one is “a privately-held personal genomics and health analytics company” with an unclear business model. Both have privacy statements but one must wonder about the public’s trust and acceptance of such sites, perhaps especially adding your whole family’s health information to a government website.
However, both provide a helpful services. In the future, integration with PHRs or Google Health or Microsoft HealthVault would provide a more comprehensive offering.
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