Saturday, September 29, 2012

“Genomes, Hype, and a Realistic Pathway to Personalized Medicine”

Earlier this month I was privileged to attend a very interesting and informative presentation that was the first of the 2012/13 Chancellors' Lecture Series at Vanderbilt University. It was presented by Dr. Dan Roden and was entitled 

“Genomes, Hype, and a Realistic Pathway to Personalized Medicine”

Since most of you do not live two miles from Vanderbilt University, you will have to settle for a YouTube like version of his presentation which is linked above.

In addition to my intense interest in the subject matter, Denise and I had a couple of personal ties that compelled us to attend. Both of us have been beta testers for the PREDICT database that is being built by Vanderbilt to use genetic testing to forecast the response a given patient will have to a given drug. So far we have only been given the results (part reproduced below) of how our genes predict how we will react to two widely prescribed drugs--Plavix and Simvastatin:  
Clopidogrel (sounds like "kloh-PID-oh-grel") is a blood thinner used to prevent clots that can cause a heart attack or stroke. Your genes can affect how well the drug works. This genetic test identifies how well you may respond to clopidogrel. Clopidogrel is a blood thinner (brand name Plavix). When the cells in your blood stick together, you can form a harmful clot or have a stroke. Clopidogrel is used to help prevent blood clots from developing, for example, for people who have had a recent heart attack or stroke. However, clopidogrel does not prevent harmful clots or strokes the same for all people.    
Simvastatin (sounds like "sim-va-stat-in") is a medication that lowers fatty substances in the blood (brand name Zocor).
Examples of fatty substances are cholesterol and triglycerides. Simvastatin lowers the levels of LDL cholesterol ("bad cholesterol"). At the same time, simvastatin raises HDL cholesterol ("good cholesterol"). Although rare, people sometimes have a bad reaction to the drug. Your genes can affect your risk for bad reactions to the drug. This genetic test identifies your risk for a bad reaction to simvastatin.

My results from the PREDICT test indicate that I will process both of these drugs normally. My wife, Denise is red-flagged on both of them:
In some patients, simvastatin may cause muscle pain, tenderness, or weakness. Your doctor, often with the results of a lab test, can determine if your simvastatin medication is the cause of these symptoms.
The results of your test show that you have one version of the gene that may put you at increased risk for this negative outcome.
These results were not unexpected as we have similar results from 23andMe. However, it was somewhat reassuring to have the results replicated.  In addition Denise self discovered several years ago that statins give her severe leg cramps.

Our second personal draw to attend this lecture is that Dr. Roden is our daughter-in-law's genetic cardiologist. As she tells it, she knows him well; but he knows her better.

Vanderbilt now has linked 150,000 patient medical records with genetic information. The goal is be able to prescribe drugs that do what they are expected to do and don't make the patients sick. Although testing is being done on 184 variant genes that may predict reactions to 58 different drugs, so far associations are viewed as being reliable enough to embed them in patient records (available to patients and their doctors) for only the two types of drugs reported above. At present Vanderbilt is only one of two hospitals who make this link between patient genetic history and patient medical records. This number hospitals and genetic to medical information links should expand considerably over the next few years.

I hope you will want to watch this presentation excellent.



  1. I am another 23andme tested individual who has the red flagged snp for simvastatin. My particular snp has a 17x greater chance of reactions to this drug. It was based on 12000 heart patients in a study.

    I showed up to my cardiologist appointment armed with my 23andme results explaining the adverse effects of the drug on me. I had a number of adverse reactions. Fortunately I had a doctor who listened and took me off the drug. Without taking the 23andme test I would have had no idea of my potential problem with this drug. The reason for my 23andme test was for ancestry and medical turned out to be very important for me.

    23andme satisfied customer for this early entry product into personalized medicine.

  2. It's important to have physicians who will listen. We should be partners in arriving at the best treatment plans for each of us.