April 17, 2012
The value of more diverse communities’ using this data may be in the serendipitous opportunities that it creates. Not only will different communities look to new data sets with which to combine the primary data (research networks, and even social networks such as Facebook or Twitter), but they may also approach the problem from new angles.
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March 28, 2012
The promise of timely and reliable evidence in sufficient quantities to statistically ‘power’ health care decisions depends on its quality, its interoperable ontological mapping of concepts (so that “apples” are really “apples”) and on the accessibility of the data on which to base discoveries and conclusions. These aspects are improving rapidly in health care Big Data recently, making that promise real. Detecting, identifying and doing analytical, descriptive-statistics procedures: there is no doubt that these must inform and define the best matches and optimal choices and improvement actions and predictive models.
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December 19, 2011
There is a book (Justifying Intellectual Property) published last June by Robert Merges of Harvard and Cal-Berkeley law schools that you will want to read. It is exciting, beautifully written, and has strong relevance to discoveries and inventions that arise from observational research involving re-use of health data, including ‘panel’ or population-level data such as are stored in multi-institution EHR-derived data warehouses and HIE repositories. In the book, Merges defends the importance of strong intellectual property protections in the present populist, pervasively-interconnected, social-network-obsessed information age that is so enthralled with unfettered collaboration for collaboration’s sake.
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October 20, 2011
During the annual Cerner Health Conference last week, several clients came up to discuss my previous post and associated essay on de-identified health data. In my essay, I basically agree with Marc Lappé and others who have asserted that medical ethics as it exists and is practiced today is different from—and historically antagonistic toward—public health ethics (‘communitarian ethics’). This point of view is covered at some length in a paper by Eric Meslin and Ibrahim Garba in the September issue of Human Genetics.
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September 13, 2011
Cerner and many of our client institutions participate in de-identified databases that support observational and translational research. Such databases, called data warehouses, constitute a comprehensive source of de-identified, confidentiality-protected, real-world health data collected as a by-product of patient care. Cerner aggregates the data provided by participating facilities and uses stringent quality assurance processes to ensure the ongoing integrity of the information.
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August 09, 2011
The FDA has already cleared a handful of mobile medical apps used by health care professionals, such as a smartphone-based ultrasound and an application for iPhones and iPads that allows doctors to view medical images and X-rays. But to-date, the FDA has not cleared any consumer-facing mobile medical apps. Nor does it appear that the FDA realizes how big a job this will be.
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May 24, 2011
"In the clinic, if somebody has low HDL-cholesterol levels, the first thing I tell them is to get out and exercise. But genetic loci have been identified that affect HDL-cholesterol levels as well. The question is, how do these two factors work together, or work against one another, to alter HDL-cholesterol levels?" - Brendan Everett, Brigham and Women's Hospital, Harvard University
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April 08, 2011
This question was posed by a reader in response to my previous blog post about the anticonvulsant medication valproic acid and drug-induced liver injury that occurs in a modest percentage of patients where the risk disproportionately involves individuals with a particular gene polymorphism.Measuring or predicting risk for an individual vs. measuring or predicting risk for populations is an important distinction to make. Epidemiologists call applying a population result to a person the "atomistic fallacy." The converse (applying risk that is known for an individual or for a small group to a larger population that is different from the individual or small group) is called the "ecological fallacy."
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March 17, 2011
I received the following question via email after my recent post: Depakene is about the only thing that has controlled my child's seizures. But the 23-times greater risk is scary. Do the POLG gene variants cause higher drug blood levels or what? Should those be monitored more often? We'd hate to stop the drug and 'fix' something that's not broken. My daughter's been on Depakene for 4 years with no problems. If she has that SNP genotype, is her risk 23 times higher, or might it be some other amount?
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February 17, 2011
The pursuit of the perfect end-state can drive a belief that there are limitless opportunities for improvement. Although perfection can never be fully realized, its pursuit can propel achievement of value and excellence; that is the rationale behind the Baldrige and other quality awards. The pursuit of perfection can be distinguished from ‘perfectionism’. Perfectionism is retrospective—hind-sighted and judgmental in its point of view. It devalues what has already been done because it is not perfect. By contrast, the pursuit of perfection is prospective and nonjudgmental. It asks the question, What choices and investments should we make today to move closer to the perfect end-state?It was with these thoughts in mind that I read with dismay the post by Katherine Hobson in the Wall Street Journal health blog last week. In it, she says that real benefits of genomics and personalized medicine are still many years away, citing just-published papers in the prestigious British journal Nature. This is a nasty rumor; a cliche; a bad meme that keeps coming back like a bad penny.
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February 10, 2011
A research article published in November shows that people who have the 'GT' genotype for the single-nucleotide polymorphism (SNP) in the mitochondrial polymerase gamma (POLG) gene have a 23-fold increase in liver toxicity. For those who have two copies 'TT', the risk is even higher. As such, these genotypes confer tremendous risk on about 12 percent of people of European/Caucasian descent, and somewhat smaller percentages of people of Asian or African descent.
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January 28, 2011
A reader emailed me to ask: In follow-up to your previous blog post, is there a comparable example for women's health?To be exactly comparable, we'd be talking about genomics-based personalized tailoring of cancer screening-related diagnostic testing normal-ranges or decision-levels, where the diagnostic involves a customary biomarker molecule that is used to assess risk of cancer and guide further evaluation or intervention.
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