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Sep 12, 2013

10 Reasons the Human Genome Matters in Medicine

  • In an effort to facilitate discussion about genomics, the Center for Individualized Medicine at Mayo Clinic recently released 10 reasons why the genome matters for diagnosis and treatment.

    1. It’s already influenced drug labels and uses for some medicines. The U.S. Food and Drug Administration has changed medication labeling, doses and uses based on genomic research, including a key drug for breast cancer.
    2. It's making sure your doctor is giving you the right drug at the right dose. Not everyone can tolerate or metabolize the same drugs; genomics shows some medications have no effect or might hurt rather than help certain individuals. For example, one person in ten cannot tolerate the standard treatment for irritable bowel disease and needs a different drug.
    3. It makes developing new medical tests faster and better. It has already resulted in several new tests to diagnose and treat disease, and to avoid some needless therapies, including a treatment test for mood disorders.
    4. It may be helping you prevent an illness. It can tell you that you have a greater susceptibility to some conditions, so you can change your behavior to avoid them. For example, those at risk for developing diabetes can make lifestyle changes to lower their risk.
    5. It may be helping you or a family member fight a treatment-resistant disease. A genomic scan may reveal a genetic alteration that indicates an alternative, successful treatment. In one case, a mutation led to use of a kidney cancer drug to treat breast cancer.
    6. It may help identify an undiagnosed disease. Misdiagnosis sometimes happens with many gene-based conditions. Genomic analysis may pinpoint a diagnosis after months or years of confusion. For example, a person's genetic inability to produce a certain protein may mimic symptoms of a disease.
    7. It may help you pick the right foods for your digestive system. Nutrigenomics can help match your diet to your genome and help with digestive diseases, such as celiac or Crohn's disease.
    8. It may help in tailoring your cancer therapy. Your genome may not respond to certain chemotherapies, but cancer tumors also have their own modified genomes, which also need to be considered in picking a treatment. Perhaps two drugs in combination may be the solution.
    9. It may help in family health decisions, including family planning. Genomic analysis may reveal familial conditions you want to consider before having children. In some cases the two genomes may increase the risk of certain disorders.
    10. Your genomic information in your medical record will help doctors diagnose and treat you in the future. Your individual genomic signature can be as important as your blood type in determining treatment or care decisions.

    How the human genome can affect diagnosis and treatment in health will be among the topics discussed at Individualizing Medicine 2013: From Promise to Practice to be held later this month in Rochester, Minnesota. The Mayo Clinic hosted conference will focus on practical applications for integrating genomics and pharmacogenomics to individualize patient care, strategies to overcome obstacles of implementing genomic sequencing for patient care, and how to disseminate genomic information to patients through an ethical, legal, and regulatory framework.



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