Drug Metabolizing Enzyme Info

There is more than a 50% chance that you have an easily diagnosed but potentially fatal drug-metabolizing enzyme problem, which is a genetic mutation that causes 100,000 deaths and 2,100,000 serious drug reactions in the U.S. every year. If you understand your unique drug-metabolizing enzymes, you and your health care providers can learn which prescription and non-prescription medications are best and worst for you. A simple genetic test (cheek swab) can mean the difference between a drug that makes you well or gives you a toxic reaction (or no effect at all).

Despite these tests being around for the last few years, (my family and I were tested at Mayo Clinic in 2005) a recent study found that only "1 in 4 physicians had any education in the use of genetic testing to guide medical decisions.; (see "As Genetic Testing Races Ahead, Doctors Are Left Behind" from the L.A. Times.) The majority of health care providers and the public are not aware of how far personalized medicine has come in recent years. To prevent unnecessary tragedies, I am sharing my family's near fatal story here and in a newsletter article, "One Family's Battle to Overcome Bad Genes for Drug Metabolism" distributed by Genelex (Genelex.com), the leader in enzyme testing and a quality information source. We can avoid tragedies like those in this New York Times article,"For Some Troops, Powerful Drug Cocktails Have Deadly Results."

The importance of these enzyme tests is now being taught in some medical schools, as well as being embraced by some pharmacy benefit managers (see "Before the Rx, There May Be a Genetic Test" from the Minneapolis Star Tribune). However, my hope is that knowledge of this topic soon becomes more mainstream at a faster pace. To accomplish this goal, I encourage you to forward this information to your friends, physicians, nurses, pharmacists, local representatives, and the media. Note that I am not in any way affiliated with the genetic testing industry. I have not been asked to write this and I am not receiving any compensation from anyone. After witnessing the near death of my parents because physicians did not understand what their enzyme tests meant, I feel that it is my responsibility to share this knowledge with you because it can mean life and death. It is time these tests become known and used!

Drug metabolizing enzyme tests can improve health and save lives.

These simple, yet often unknown DNA tests can help determine which medications and dosages are best for you in treating allergies, infections, depression, asthma, cancer, diabetes, epilepsy, heart conditions, inflammation, pain, seizures and many other conditions.

Members of my family have suffered and almost died from being prescribed medications not suited for their genetically determined drug-metabolizing enzymes, in spite of discussing their enzyme test results with their outstanding physicians. I hate to see this happen to anyone else when it is preventable. My family and I are frustrated that these tests have been available for many years, have an outstanding success rate yet it is still difficult to find people in the medical community who have even heard of these tests let alone can interpret their results and prescribe medications to match the patient's enzyme situation.

These enzyme tests are part of the emerging field of Personalized Medicine, specifically called Pharmacogenetics, which studies how your genetic makeup affects your response to drugs. (This is different from allergies to medications.) Now, many medications can be prescribed more precisely tailored for an individual's unique genetic makeup and not by trial and error.

People react differently to medications. According to the Journal of the American Medical Association, each year in the U.S.A., “properly” prescribed medications lead to over 100,000 deaths and 2.1 MILLION people having adverse reactions. Others just don't get as healthy as they could or get worse. Tests can now often determine how a person will likely react to medications and predict the best course of action for prescribing and dosing.

I first heard about about drug metabolizing enzyme tests in a September 2005 Business Week cover story, "Drugs Get Smart." Shortly after, my family and I were fortunate to participate in a Mayo Clinic genetic study, which is one of many organizations researching drug metabolizing enzymes and also where these tests are used frequently in prescribing medications.  However, these tests and our family's test results were not even heard of let alone understood by our usual physicians, whom we consider to be very hard-working and outstanding.  We still do not understand why this knowledge that is so important, life changing or saving is not known by every health care provider and the general public.

Serious drug metabolizing incidents involving my parents:

  1. My father (now 90) almost died from a bad drug metabolizing enzyme interaction in 2008 when taking a common prescription pain killer. He explained to his excellent health care providers before a routine surgery that, like 10% of the population, he is a PM (Poor Metabolizer) of the CYP2D6 enzyme (his enzyme does not work). He was still prescribed a post-surgery pain medication completely metabolized by his inactive enzyme because his caregivers did not understand drug-metabolizing enzyme information. Being a Poor Metabolizer, his body could not process and use the medication and he started to get what could have been a toxic buildup.  My dad rapidly became very sick, and he experienced no pain relief. I thought he was going to die right in front of me. After some research, I learned that thousands of Poor Metabolizers of the CYP2D6 have died from this medication. These are preventable deaths.
  2. My mother (now 87) had a problem with a common blood thinner which could have been very serious. Like 35% of the population, she is an IM (Intermediate Metabolizer) of the CYP2C9, the same enzyme that metabolizes this blood thinner. (For an Intermediate Metabolizer, one of the two genes does not work. Two working genes is considered "Normal"). She told the providers administering the medications about her enzyme deficit. The caregivers knew people had different reactions to these drugs but did not know of the tests or what her CYP2C9 enzyme test results meant. Worse yet, they did not tell her they did not understand it. These were smart, caring, hardworking people who gave her more blood thinner than her body could metabolize. When she returned to the clinic for a blood check, they discovered her blood became dangerously thin, to the point where bleeding to death was possible if she bruised. Again, this was preventable.
A video on Coumadin (warfarin) testing