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.
Read full story
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.
Read full story
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
Read full story
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."
Read full story
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?
Read full story
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.
Read full story
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.
Read full story
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.
Read full story
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.
Read full story
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.
Read full story
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?
Read full story
October 28, 2010
I received the following question via email:My husband and I and our three kids got our genomics testing done. In fact, we got it done with three different DTC genomics companies--three different sets of 5 specimens, three sets of 5 different microarray chips, three different companies. Among all the 600,000 SNPs genotyped on the chips, there are only 89 SNPs that are tested by all three companies on all three of the different microarray chips. One of the chips (one of the companies' results) disagrees with the other two by one allele each on 2 of those 89 SNPs. To me, this seems like a high 'error rate'. Or am I wrong? Is that chip performing within its quality specifications?
Read full story