March 26, 2013
Recently, there has been growing focus and effort in identifying biomarkers (gene expression, protein expression, etc.) that can help predict a patient’s response to treatment options.
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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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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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January 18, 2011
Most people think of “personalized medicine” as choosing the best (most-effective, safest, etc.) treatment according to the details of the attributes of the person, including genetic and genomic attributes. What's not generally recognized is that personalized medicine also involves personalizing the decision-levels of diagnostic tests for the individual--taking the numerical limits of the reference ranges (“normal ranges”) of laboratory tests and vital signs and other diagnostic and monitoring procedures, and tailoring those ranges to reflect what is “normal” for persons with those specific attributes.
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January 12, 2011
Nobody. Well, almost nobody. The real answer is that the gene (ATP-binding cassette protein, sub-family 'C' member '11'; ABCC11) that controls earwax phenotype also controls other attributes of glands in the body, and there are genetic variations in this ABCC11 gene that affect the risk of conditions and the effectiveness of treatments in those other glandular tissues.
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December 16, 2010
I received the following email:My doctor put me on metoprolol [Lopressor or Toprol-XL] for my high blood pressure about 3 months ago, and increased my dose to 200 mg twice a day about a month ago, but so far it's not working. My blood pressure hasn't changed a bit. Is there something in my genomics SNP results here that can explain this? Should I expect it'll just take awhile? Should I be on a different drug? Here are my SNP microarray results. What should I ask my doctor when I go for my check-up in 2 weeks?
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November 30, 2010
Well, quite a lot, actually. The article just published by Shengzu Li and Ruth Loos and colleagues at the University of Cambridge (link and pdf below) ought to provide strong encouragement to start or maintain your exercise plan. The study was conducted over a number of years and involved more than 20,000 people. It is absolutely solid and actionable, in terms of readiness to put into practice.Changes in lifestyle, including excessive caloric intake and insufficient exercise, have caused a dramatic increase in the prevalence of overweight and obesity.
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