Lately, there has been much concern over the issue of whether a person can practically use the information personal genomics companies give to patients and their physicians. This can be distilled with the simple question: are the results of these personal DNA reports actionable? The answer to this question is, simply, yes, the results of accurate personal DNA testing are, indeed, actionable. Further, when used by physicians and patients, personal genetic testing can be a very powerful tool in making positive and personalized health decisions, for a fraction of the cost of traditional genetic testing.

For example, genotyping of variants in CYP2C9 and VKORC1 can be used to predict an individual’s best initial dose of warfarin, an anticoagulant that is widely used in the treatment of thrombosis and related conditions. The Medco-Mayo Warfarin Effectiveness Study, published in the April 2010 edition of the Journal of the American College of Cardiology, has shown that the use of genotyping information can reduce the risk of hospitalization due to the inappropriate dosage of warfarin.[1]

Another example is a personal genetic report that provides information of a person’s genetic propensity for complex diseases, which are caused by a combination of genetic, environmental and lifestyle factors. People who have a high genetic predisposition for a particular disease may, or may not, get the disease.

Researchers at the National Human Genome Research Institute have suggested that genetic information may be more motivational in encouraging healthful behavior, compared to other risk assessments.[2]

Further, an accurate genetic carrier status report provides information on whether a person carries mutations associated with recessive genetic conditions. These diseases can be carried silently in a family for generations with no one being affected. If an individual’s report results show that a person carries a mutation, and he or she is interested in having children, the next course of action could be to have his or her partner tested and discuss the results with a physician. If a person is found to carry a mutation for a disease, and his or her partner has the same mutation, their child has a 1 in 4 chance of having that disease. A genetic counselor or trained physician can explain these risks and their options with an individual who is planning a family.

Providing a view into how one’s genetics may affect long-term health risks, genetic testing offers people the promise of improved health as well as lowering the overall costs of care. Doctors can help patients establish personalized prevention plans that can keep people from getting sick in the first place or be on alert to detect disease and initiate treatment as early as possible. Further, doctors can personalize their patient’s medication regimens, such as establishing the optimal doses or avoiding prescriptions that may be ineffective or dangerous.

[1] Epstein RS, Moyer TP, Aubert RE, O’Kane DJ, Xia F, Verbrugge RR, Gage BF, Teagarden JR. “Warfarin Genotyping Reduces Hospitalization Rates Results From the MM-WES (Medco-Mayo Warfarin Effectiveness Study).” Journal of the American College of Cardiology. 2010 Apr 7. [Epub ahead of print] (PMID 20381283)
[2] McBride CM, Koehly LM, Sanderson SC, Kaphingst KA. “The behavioral response to personalized genetic information: will genetic risk profiles motivate individuals and families to choose more healthful behaviors?” Annual Review of Public Health. 2010 Apr 21;31:89-103. (PMID 20070198)

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