• Do Your Medications Actually Work?

    Image for meds Pharmacogenomics or pharmacogenetics is the study of how a person's genes affect how they respond to medications. It is a relationship doctors have been investigating for years, and only now are they growing closer to being able to tailor drugs and dosages to individual patients.

    What Role Do Genes Play?

    The medications you take rely on internal mechanisms to metabolize and transport them throughout your body. During this process, thousands of protein molecules interact with them and may alter how well they work. This means that your genes may affect how effectively (or ineffectively) you absorb and metabolize a particular drug, which in turn affects how well the drug works for you.
    Therefore, your genetic make-up could alter your response to drugs used to manage all types of conditions, including depression , pain, blood pressure , and more. It also explains why, in some cases, you may need to try several different medications to find the one that works for you.
    While medications may work well for most people, in certain people, a medication may not work or it may cause troublesome side effects. In rare cases, these genetic-drug mismatches can prove fatal. Knowing a patient’s genetic code may, therefore, someday help doctors make drug treatments safer.

    How Does This Affect Cancer Drugs?

    Multiple studies have demonstrated the correlation between genes and drug response. The National Institute of General Medical Sciences, a part of the National Institutes of Health (NIH), has funded extensive research in this area. The basic link between genetics and drug efficacy is clear, but more research is needed to reach a practical understanding of how to apply knowledge to everyday care.
    Cancer drugs have been an area of particular interest. This is because in cancer care the need to know whether a drug will or will not work is vitally important, both because these drugs often produce serious side effects and because the time it takes to prove a drug ineffective may allow cancer cells to grow or metastasize.
    One example of the importance of genetics in cancer care is how the thiopurine methyltransferase (TPMT) gene affects the way some people metabolize a certain class of drug used to treat leukemia . Some children who are treated with this class of drug have an alteration in the TPMT gene that causes their bodies to metabolize the drug very slowly. When these children are given the standard dose of medications in this class, the medications can build up in their bodies, reaching potentially toxic levels. Other children, however, metabolize this class of drug much more rapidly. These children require larger doses to benefit from the drug. Fortunately, a blood test can determine how long it will take a child to process the drug, and the dose can be adjusted in advance.

    What Does the Future Hold?

    Within the next several years, your doctor may be able to tailor your treatment according to your genetic make-up. Some laboratories offer blood tests to check for gene alterations that vary the effect of cancer drugs. These tests are designed to look for specific changes that may affect the drug about to be ordered. In the future, it may get even easier.
    In the end, the experts offer patients some suggestions for learning more about these issues and technologies:
    • Ask if any information about genes and drugs exists for your condition.
    • Stay aware of new developments.


    Human Genome Project Information http://www.ornl.gov

    National Institute of General Medical Sciences http://www.nigms.nih.gov


    Health Canada http://www.hc-sc.gc.ca

    Pharmacogenomics Centre http://www.pharmacogenomics.ca


    Anderson JL, Carlquist JF, Horne BD, Muhlestein JB. Cardiovascular pharmacogenomics: current status, future prospects. J Cardiovasc Pharmacol Ther. 2003;8:71-83.

    Bepler G. Pharmacogenomics: A reality or still a promise? Lung Cancer. 2006;54(suppl 2):S3-S7. Epub 2006 Oct 24.

    Evans EE, McLeod HL. Pharmacogenomics—drug disposition, drug targets, and side effects. N Engl J Med. 2003;348:538-549.

    Frequently asked questions about pharmacogenomics. National Human Genome Research Institute website. Available at: http://www.genome.gov/27530645. Accessed July 13, 2012.

    Frequently asked questions about pharmacogenetics. National Institute of General Medical Sciences website. Available at: http://www.nigms.nih.gov/Research/SpecificAreas/PGRN/Background/pages/pgrn%5Ffaq.aspx. Updated February 14, 2014. Accessed June 12, 2014.

    Lennard L, Lilleyman JS, Van Loon J, Weinshilboum RM. Genetic variation in response to 6-mercaptopurine for childhood acute lymphoblastic leukemia. Lancet. 1990;336:225-229.

    Mancama D, Kerwin RW. Role of pharmacogenomics in individualising treatment with SSRIs. CNS Drugs. 2003;17:143-151.

    Mancinelli L, Cronin M, Sadee W. Pharmacogenomics: the promise of personalized medicine.AAPS PharmSci. 2000;2: 4.

    Pharmacogenomics. American Medical Association website. Available at: http://www.ama-assn.org/ama/pub/physician-resources/medical-science/genetics-molecular-medicine/current-topics/pharmacogenomics.page. Accessed June 12, 2014.

    Watters JW, McLeod HL. Cancer pharmacogenomics: current and future applications. Biochim Biophys Acta . 2003;1603:99-111.

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