In the new era of precision medicine, you may have heard the term “pharmacogenomics”. What is Pharmacogenomics? Pharmacogenomics is an area of precision medicine that examines how genetic mutations in DNA affect how patients respond to medications. Her DNA in humans is not identical, and slight genetic differences can affect how drugs are processed. As shown in his RIGHT study and the Vanderbilt Predict study at the Mayo Clinic, these DNA differences (gene mutations) are common and affect the majority of the population. Pharmacogenomics is concerned with how patients metabolize certain drugs through cytochrome p450 genes, how certain drugs are processed in the body through drug transport proteins or receptors, or adverse event genes such as HLA genes. can affect.
Pharmacogenomics, also known as PGx, has been around for decades but has been slow to make its presence felt in routine clinical practice. Barriers such as translating laboratory genetic testing into clinical feasibility are among the obstacles driving this inertia. Part of this is due to the lack of education the doctor receives about her PGx in medical school and residencies. Much evidence exists for PGx, but it is not reaching many practitioners/prescribers. PGx information is included on the FDA (Food and Drug Administration) labels of over 300 medicines. Released by the FDA in 2020, Table of Pharmacogenetic Associations Lists drugs with evidence of PGx.
Professional guidelines for PGx are provided by the Clinical Pharmacogenetics Implementation Consortium, also known as CPIC. CPIC is an academic group that produces evidence-based, peer-reviewed guidelines for PGx used in patient care. The goal of CPIC is to support the clinical introduction of PGx by developing guidelines with therapeutic recommendations considering dosing and/or dosing changes.
PGx is a tool that physicians can use to support therapeutic decision-making strategies. This helps select drugs and medications to optimize prescribing for the patient’s genetic profile. It also helps doctors evaluate benefits and potential toxicities. Not all drugs have her PGx effect, and some patients, such as those who have had liver or bone marrow transplants, may be excluded from testing. PGx has been shown to be clinically useful in therapeutic areas such as mental health (depression and anxiety), oncology (chemotoxicity and supportive care), cardiology, pain management and polypharmacy.
For more information on Pharmacogenomics (PGx), please refer to the following resources:
Julie Ceno-England, MD, is a board-certified family physician with over 15 years of clinical practice. She is currently a Senior Medical Director and Vice President of Medical Affairs at OneOme LLC, a medical technology company located in Minneapolis, Minnesota.
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