This annotated bibliography is referenced on the Pure Recovery front page
Alina Eisen, Pharm.D Candidate 2009
University at Buffalo School of Pharmacy & Pharmaceutical Sciences
Prepared during Consumer Health Information Corporation Clerkship
Dorothy L. Smith, Pharm.D.
CEO and President
Consumer Health Information Corporation
In December 2008, the New York Times ran a story about a woman from California who had been taking a drug called tamoxifen to help prevent breast cancer. After two years of taking the drug, her doctor ordered a new genetic test that showed that her genes were preventing the drug from working properly.
“You find out you’ve been taking this medication for all this time, and find out you are not getting benefit…I was devastated” says the women. She had to stop taking tamoxifen. The good news is that she found out that the drug was not helping her and her doctor can now prescribe a drug which will work in her body. The bad news is that she could have known this two years ago if she had taken the genetic test from Day 1.
Medications: One Size Does Not Fit All
Everyone has unique, complex genetic characteristics. We typically think of these as things that determine our eye color or whether we are likely to develop certain diseases and disorders. However, genetics also affect how we respond to most commonly prescribed medications.
More than 75% of people have genetic variations that determine how their bodies process and use drugs. This applies not only to prescription medications, but also to over-the-counter medicines, herbal and dietary supplements, and recreational drugs such as marijuana.
Because of these genetic differences, two people can take the same dose of the same drug, but respond in very different ways. For example, the drug might work very well for one person, but not at all for another. Or the drug might cause side effects for one person, but not for someone else.
YouScript Personalized Prescribing enables selection of the right drug and dose
In some cases, drug-related side effects can be serious or cause death – even though the drug was prescribed correctly by the doctor and used correctly by the patient. People who take several different drugs face an even greater risk of dangerous side effects, especially if they are over 65 years of age.
Each year, millions of people are hospitalized because of dangerous side effects caused by drugs. In fact, serious drug-related effects are the 4th leading cause of death in the US.
YouScript® : It’s All About You
Now there is a simple genetic test that can help your doctor determine which drugs and doses are right for you.
YouScript® Personalized Prescribing for DNA Genetics starts with a painless cheek swab done by your doctor or pharmacist. The swabs are then sent to our genetic testing laboratory to determine your unique drug-processing genetic characteristics.
Your healthcare provider will receive a report with your results and detailed recommendations for possible changes to your drug regimen or dosages. YouScript® can help you and your physician:
- Improve the effectiveness of the medications you take; Reduce negative side effects;
- Prevent serious drug reactions;
- and Avoid buying and using drugs that won’t work for you.
Every YouScript® Personalized Prescribing Plan comes with:
- Wallet cards to help you share your drug processing information with all your healthcare providers;
- Secure online access to your results so healthcare providers can make safer, more informed prescribing decisions based on your unique genetic characteristics; and
- Support from a team of licensed pharmacists and personalized prescribing specialists.
Could YouScript® Help You?
You can take the first step to understanding which drugs are right for you by downloading and completing the YouScript Risk Assessment. Based on your results, your healthcare provider may recommend genetic testing.
Note: Testing requires a prescription from an authorized healthcare provider.
Pharmacogenomics is the study of how genetic variations affect the response to drugs. All enzymes, including enzymes in the cytochrome P450 family, are produced by specific genes. The gene contains a DNA code for the construction of the enzyme. It is common for an enzyme’s DNA code to have a variation. Typically, this is caused by a change in one nucleotide in the code. Such a change is called a single nucleotide polymorphism (SNP). A gene (also called an allele) with a SNP is called a variant gene or variant allele.
Why should I know my patients’ DME genotype?
Many patients have a gene variant that affects the function of one or more drug metabolizing enzymes (DMEs)–the cytochrome P450 enzymes. The altered enzyme function can change the rate of drug metabolism.8,9 Patients with gene variants are more likely to experience drug toxicity or lack of efficacy.6 Most variants cause a loss of enzyme function. Patients who have these variants are poor or intermediate metabolizers. A few people have variants that increase enzyme function. These patients are ultra-rapid metabolizers.9 Patients on multiple drugs (polypharmacy) have the highest risk for adverse drug reactions (ADRs). Taking multiple medications increases the likelihood that one or more will not be metabolized correctly.10
Genetic variants and prodrugs
A prodrug is a chemical substance that is inactive until it is metabolized by enzymes in the body. Enzyme metabolism converts the substance into its active (drug) form. For example, codeine is a prodrug that is metabolized into morphine. A genetic variant that slows the rate of prodrug metabolism can result in lower than expected blood levels of the active drug. A genetic variant that speeds up prodrug metabolism can lead to a higher concentration of the drug in the blood. This could be toxic, depending on the drug.
In Drug Dosing, Not All Patients Respond to the Standard Dose
Plasma drug levels can vary up to 1000-fold between patients who weigh the same amount.4 Variations in metabolism can cause life-threatening toxicity in one patient and reduce drug effectiveness in another.5
In 40 to 75 percent of patients, drug therapy is less effective than expected.6 With 3.9 billion prescriptions filled in 2009, millions of patients are under- or over-treated.7 Genetic testing helps you personalize drug therapy to avoid ADRs and maximize treatment efficacy.
Adverse Drug Reactions: A Leading Cause of Morbidity and Mortality
Adverse drug reactions (ADRs) cause an estimated 7,000 outpatient deaths per year.1 More than 2 million serious ADRs and 100,000 deaths occur annually in hospitals, with another 350,000 ADRs in nursing homes.2 Adverse drug reactions cost an estimated $177 billion each year–more than cardiovascular diseases.3
To Avoid ADRs, Look to Your Patient’s Genes
Our genes determine characteristics from the obvious eye color and heightto less apparent, such as how much the body makes of certain enzymes. These distinct traits are caused by variations in genes, called alleles.
The cytochrome P450 liver enzymes are among the most important metabolizers affected by individual gene variations. This family of enzymes is responsible for metabolizing more than 80 percent of drugs.8
Because genes come in pairs–one from each parent–a patient can have two normal genes (no variants), one variant, or two. Patients with no variants have normal cytochrome P450 enzymes, but patients with one or two variants have enzymes that metabolize less or more than normal enzymes. This affects how the body metabolizes drugs, which in turn affects the levels of a medication in the blood. Levels that are too high can cause ADRs, and levels that are too low can make treatment ineffective.6
What happens when you marry the already diverse and interesting branches of medicine – pharmacology and genomics? You get the ever-brilliant brainchild: Pharmacogenomics. A clinical utility of pharmacogenomics includes the management of Hepatitis C and also breast cancer endocrine therapy, pain management, HIV, and more. By blending pharmacology and genomics, doctors are able to personalize medicine in a way that has never been done before. They can actually prescribe medications and dosages that they know their patient will respond positively to. No more guesswork, no more trial and error seeing which medication works best, better than others, or best in conjunction with others the patient is taking. All of these things are taken under consideration when a clinical utility of pharmacogenomics is being considered. Pharm GKB, or the pharmacogenomics knowledgebase, is an enormous online resource for anyone interested in discovering …
One million. Generally, any way you look at it, one million is a high number – whether you’re talking about dollars or people. What would you think if you found out that one million represents the number of people rushed to the emergency room every year in the United States due to an adverse drug reaction? That’s a lot of people and a lot of adverse drug reactions. Pharmacogenomics is making a dent in that number, with the hopes that eventually, that number will be zero. A huge percentage of the population is currently taking Plavix. In fact, when it comes to prescribed medication, it comes in second in the world. Plavix genetic testing is important because 30% of people have a particular genetic blueprint that doesn’t allow their body to respond at all to Plavix, as it is intended. …
At DNA Stat, DNA Genetics they are proud to be at the forefront of pharmacogenomics, a new field of medicine that deals with genetic DNA testing. Their facility is providing patients and their doctors with invaluable information about their health, gleaned from genetic testing for drug metabolism. A relatively youthful branch of medicine, genetic testing for drug metabolism is to people in the 21st century, quite possibly what the discovery of Penicillin was to people of the 20th century. Patients interested in taking advantage of genetic testing for drug metabolism need only obtain a simple genetic DNA test from their local clinic or health care provider. It’s as simple as a Buccal swab of the cheek and doesn’t require any needles, is painless and blood-free. The swab is then sent to one of DNA Stat’s partner labs where it is de-coded by …
Personalized medicine services might not be a term most people are familiar with, but at DNA Stat, DNA Genetics it is their core mission statement. As a provider of pharmacogenomics future medicine, they take great care and great pride in the personalized medicine services that they deliver to their clients. Located in Addison, Texas, this pharmacogenomics and personalized medicine provider works with patients and doctors all over the country in an effort to bring safer, more effective medications to everyone. Born circa 1990’s, pharmacogenomics future medicine is all about achieving a greater level of personalized medical services to patients all over the country. With 100,000 people dying every year because of adverse drug reactions and one million people annually being rushed to the emergency department because of a problem with their medications, pharmacogenomics and personalized medicine is clearly a branch of medicine …
Sometimes, miracles don’t happen by accident. DNA Stat is proud of the work they’ve accomplished in the field of pharmacogenomics which encompasses an exciting blend of diagnostic testing and pharmaceuticals. If pharmacogenomics and DNA testing services sprang into being a thousand years ago, surely society would hail it as a miracle. Today, it is one of the many exciting modern breakthroughs in the field of medicine as diagnostic testing services within the field of pharmacogenomics is nothing short of miraculous in its ability to pinpoint the exact right medication for the exact right individual. It’s easy to obtain a genetic DNA test; all that’s required for the individual is a trip to their doctor’s office or local clinic. At that time, the medical provider attains a Buccal swab of the cheek which is as simple as it sounds. No needles, …
Still relatively new to the field of medicine, pharmacogenomics personalized medicine deserves everyone’s attention. This branch of study involves the reality of prescribing medications and treatments for patients that are directly suited to their own genetic makeup. By being able to offer this level of care, doctors and patients everywhere can rejoice in limited recovery times, a quicker means to a happier, more active lifestyle, and limited trips to the hospital because of adverse drug reactions. Pain management and pharmacogenomics involves cyp3a4/3a5 testing. This type of testing is done to determine if a patient can or cannot ingest a certain type of pain management medicine, and if they can, what dosage they should be taking. Pharmacogenomics personalized medicine is the newest and most exciting field of medicine and DNA Stat stands at the front lines making new strides everyday to …
Pharmacogenetics, the study of variations of DNA and RNA characteristics as related to drug response, is one of the most exciting areas of personalized medicine today. It can be difficult to predict who will benefit from a medication, who will not respond at all, and who will experience adverse effects. Pharmacogenetics seeks to understand how differences in genes and their expressions affect the body’s response to medications.Patients typically have variability in response to many commonly prescribed drugs and now you can know what that is for EACH patient.
More specifically, Pharmacogenetics uses information (such as DNA sequence, gene expression, and copy number) for purposes of explaining inter individual differences in drug metabolism (pharmacokinetics) and physiological drug response (pharmacodynamics), identifying responders and non responders to a drug, and predicting the efficacy and/or toxicity of a drug.
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