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The Science of Pharmacogenetics

What is pharmacogenetics?


More than 90% of rare diseases have no FDA-approved treatment. In many cases, providers have to use a trial-and-error approach to find a medication that is both effective for a patient and does not make them feel worse. This method can result in a delay of relief, and in some cases, put an individual at significant risk.


Pharmacogenetics may be the answer for many rare disease patients on the journey to finding the right treatment. Also called pharmacogenomics, this science studies how a person’s genes affect how a medication works for them, how it is metabolized and what side effects it may cause. In short, your genes may determine the individual way a certain medicines work on you!


With a simple bood or saliva test, your healthcare provider may be able to find out if a certain medication will be effective for you and what dose is best for you. Pharmacogenetic testing may also be albe to help predict if you will have a serious side effect.


Pharmacogenetics is a very promising science, but it is not transforming healthcare just yet. These tests are currently available for a few hundred medicines, although many commonly prescribed therapies are on this list, including certain blood thinners, ADHD medications, statins and opioids. Another challenge is provider acceptance. Because this is a relatively new science, some providers are not familiar with the benefits of pharmacogenetic testing, and others have heard of it but see it as ‘junk science.” However, many peer-reviewed journals have published studies to support its use, and certain medical professional societies, including the American Academy of Family Physicians, have endorsed its use.


To learn more, visit these links:


1. Evans WE, McLeod HL. Pharmacogenomics—drug disposition, drug targets, and side effects. N Engl J Med. 2003;348(6):538–549. https://www.nejm.org/doi/full/10.1056/nejmra020526.


2. Caudle KE, Klein TE, Hoffman JM, et al. Incorporation of pharmacogenomics into routine clinical practice: the Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process. Curr Drug Metab. 2014;15(2):209–217 https://pubmed.ncbi.nlm.nih.gov/24479687/


3. Pharmacogenetics: Using Genetic Information to Guide Drug Therapy. Am Fam Physician. 2015 Oct 1;92(7):588-595. https://www.aafp.org/afp/2015/1001/p588.html

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