If you happen across the Web site of NEXTgencode, don’t be fooled. The company doesn’t exist and the bizarre genetic conjectures are pure fiction. The site exists to help promote Michael Crichton’s next book “Next”. I shudder to think what Crichton will do for genetics after what he did for global warming in the execrable “State of Fear”.

Thanks to Hsien Hsien Lei’s excellent Web Site Genes and Health for tipping me off about this.

Technorati Tags: Michael Crichton “Next”, NEXTgencode, hoaxes

I was away for Thanksgiving with family in chilly Seattle. I returned to find 174 comments awaiting moderation. Sadly, all 174 were spam, offering me the usual prescription-drugs-without-prescription, Rolex copies, Prada knockoffs, and a heaping helping of pornography (bestiality has been popular lately). This is pretty much par for the course. Whenever I see one of your real, thoughtful comments about something that’s been posted here, my heart soars.

I envy some of those other blogs—mostly political—where a single, not-terribly-profound posting can elicit hundreds of comments.

Ah well. Pharmacogenetics and genomic medicine are alive and well. See, for example, the Web site for the Guilford Genomic Medicine Initiative. The Guilford project [Guilford is a county in North Carolina] is funded by the Department of Defense to the tune of $10 million over three years. The Guilford project will concentrate on breast and ovarian cancer, colon cancer, and thrombotic disorders. Their mission statement says that a major aim of the project is to “ensure that the information provided through genetic testing is clearly communicated by health professionals and understood by individuals receiving their genetic information.”

The project will seek to identify individuals with genetic risk for the named conditions. Apparently at a later phase, the project will include pharmacogenetic testing for medication response.

Technorati Tags: pharmacogenetics, breast cancer, ovarian cancer, colon cancer, thrombosis, North Carolina, Guilford Genomic Medicine Initiative, Department of Defense

Getting the dose of coumadin right can be difficult.  There are several algorithms for dosing, and at many of our medical centers nurses staff dedicated anticoagulation clinics.  Now there appears to be a new tool for safe and effective coumadin prescribing, a coumadin sensitivity test that looks at variations in the genes associated associated with response to coumadin–CYP2C9 and VKORC1.  You can read all about it at Hsien Hsien Lei’s excellent Genetics and Health site.

Technorati Tags: coumadin, warfarin, pharmacogenetics, genetic testing, atrial fibrillation

Doctor E tips his hat to a reader who sent a pointer to a new Web resource for all manner of medical subjects that include calculations that can be expressed as algorithms. The site is The Medical Algorithms Project . It requires registration but registration is free.

Log-in comes with the caution that:

The material at this website is intended only for the educational and personal use of health care students and professionals. It is not intended for persons who have not received appropriate medical training, and should not be used for making clinical decisions pertaining to patient diagnosis, care, or management. Algorithms predicting outcomes use data based on the original articles. Outcomes may vary between institutions and are impacted by newer developments in diagnostics and therapeutics. These should be validated prior to use

Any computations obtained from these algorithms should be compared with, and tempered by, personal clinical knowledge and judgment.

Most of us are aware of some very basic algorithms that are a part of daily medical practice. A fasting lipid panel, for example, will correct the total cholesterol number by a fixed proportion (20 percent) of the triglyceride result.

Creatinine clearance is another important number. Probably during residency you knew the formula off the top of your head, but today you’re more likely to send the timed urine sample off to the lab and wait to see the calculations.

Apropos of this blog, which focuses on topics in genetics, is the Algorithm Project’s section on medical genetics, which includes all manner of calculations.

Many of the algorithms for calculating the probability of paternity were new to me. They conjure up the possibility of real life sticky social situations and can surely provide the raw material for at least a couple episodes of “House.” Consider the avuncular index, which takes its name from the avunculus, the Latin for “uncle”. This algorithm calculates the probability that a child’s uncle is actually his biological father. Then there’s the RMNE algorithm—for Random Male Not Excluded—defined as “the probability that a random, unrelated male from the same racial background would not be excluded as the potential father of the child.

I find this stuff fascinating. Check it out.

Technorati Tags: medical genetics, paternity testing, medical algorithms, “House”

Medicare Part D has been a headache for doctors and patients alike. Not a few of us have suggested that the D should stand for “disaster.” But, as long as we’re stuck with it, there are things to be aware of.

The most important thing to know is that the new enrollment period for Part D starts on Wednesday, November 15 and continues until December 31, 2006. It’s crucial to sign up during this period, because late sign-ups are subject to a premium penalty. Jane Brody’s recent article “Time to take another look at Medicare drug plans” in the November 7 NewYork Times is an excellent summary of the issues. I recommend it for everyone.

Technorati Tags: Medicare Part D, health care costs

This will be familiar to all of you who maintain a clinical practice.

It was ten years ago. I get a phone call from a friend who asks me if I will see a friend of his who is visiting from Indiana and has developed a bad cough. So I agree. The cough turns out to be pneumonia. The pneumonia is not bad enough to require a hospitalization, but it’s definitely something that needs an antibiotic.

So I prescribe a well-known antibiotic—a super drug that requires only a five-day course and once-a-day dosing.

A few hours later the friend-of-a-friend calls me from the pharmacy. “I can’t get the medicine you prescribed,” he says, “because they want $140.00. A hundred and forty dollars for six pills!” To be honest, I had no idea. For nearly twenty years I have been practicing in a prepaid health plan in which most patients pay somewhere between a dollar and $15 for any prescription. I was leading a sheltered life!

For the friend of a friend, I wrote a new prescription: a ten-day course of generic doxycycline that cost him less than $20.00. It worked. A few weeks later I got thank-you email.

It turns out I’m not the only doc who has been shielded from the cost of prescription drugs. A recent study published in the Journal of Managed Care revealed that only about a third of the time did physicians discuss cost issues with their patients. Conversely, patients initiated discussion of cost issues only two-percent of the time.

I hasten to add that since my experience with the expensive antibiotic, I always ask about cost issues when I prescribe a new medication. Some of these costs are statospheric. The newer disease modifying agents for rheumatoid arthritis, for example, can run more than $1000 per month.

And speaking of drug costs, my next posting concerns the upcoming Medicare Part D enrollment period. Check it out.

Technorati Tags: prescription drugs, health care costs, generic drugs

I guess it’s inevitable that when you tell people that you’ve been writing about pharmacogenetics, they’ll want to know if you can tell them anything about the medications that they’re taking or that they’re thinking about taking.  Recently a friend asked me about a particular immune suppressive drug that had been recommended as a treatment for her multiple sclerosis.  My quick search of the literature didn’t find any immediately available tests, but it did find that lots of people were thinking about them.

The first Web site I found was that of a personal injury law firm that was recruiting clients who might have been harmed by an MS drug (not the one my friend was thinking of taking).  In the law firm’s statement was a comment that pharmaceutical companies were ignoring developments in pharmacogenetics.

Other sites discussed current research aimed at looking for pharmacogenetic, pharmacogenomic, and proteonomic aspects of MS.  Here are two studies discussed in the September 2005 issue of the Journal of Neurology:

“Two forthcoming studies will investigate the long-term effects of early treatment with interferon beta-1b (IFNβ) on the course of MS. The BENEFIT (BEtaseron®/Betaferon® in Newly Emerging MS for Initial Treatment) study will incorporate pharmacogenetic and pharmacogenomic analyses to determine the genetic elements controlling treatment response. BEST-PGx (Betaferon®/Betaseron® in Early relapsing-remitting MS Surveillance Trial—Pharmacogenomics) is an exploratory 2-year study that will investigate the value of RNA expression profiling and pharmacogenetics in predicting treatment response to IFNβ in patients with early relapsing MS. The main goal of BEST-PGx is the identification of differences in gene expression profiles of patients showing differential treatment responses. In addition, this study may reveal new information relevant to the mechanism of action of interferon treatment in MS and also to differences in the underlying pathology of the immune system.”

As an aside, I wonder where the practice of assigning cute acronyms to clinical trials actually started.  BENEFIT indeed.  I await their findings.

Technorati Tags: pharmacogenetics, multiple sclerosis, interferon