What is pharmacogenomics?

The NIH describes, “Pharmacogenomics (PGx) as the study of how genes affect a person’s response to drugs. This field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a person’s genetic makeup.”

Many drugs that are currently available are “one size fits all,” but they don't work the same way for everyone. 

It can be difficult to predict who will benefit from a medication, who will not respond at all, and who will experience negative side effects, adverse drug reactions” which send over 2 million people to the Emergency Room every year (CDC) and are the # 4 leading cause of deaths in the United States. 

With the knowledge gained from the Human Genome Project,

researchers are learning how inherited differences in genes

affect the body’s response to medications.

The knowledge gained from these genetic differences already

can be used to predict whether a medication will be effective

for a particular person and to help prevent adverse drug reactions.

Benefits of PGx testing:

·        Can help maximize drug efficacy

·        Minimize adverse drug reactions/events

·        Reduce the need for trial-and-error treatment planning

 

 

While pharmacogenetics gained traction after a 1950s study of the effects of specific medications on different individuals based on their genetic makeup, medical science has known for over 1,500 years that many individuals react differently to certain medications.


Pharmacogenetics: The Basics
Researchers were able to conclude that individuals who have certain genetic variations respond differently to prescribed drugs than those who are without those variations. That is to say that the same dosage, timing and frequency of a drug treatment plan of care may have the ability to metabolize as anticipated in one patient, while it may metabolize differently in another, all based on that individual’s genetic makeup.  The study of pharmacogenetics and the process of pharmacogenetic testing allows healthcare providers the ability to analyze gene markers that can highlight a patient’s inability to process or metabolize a drug as expected. This allows the provider to prescribe a drug treatment plan personalized to a specific patient.

 

How Pharmacogenetic Testing Works

Pharmacogenetics in practice is built on the foundation of pharmacogenetic testing, which evaluates the basic unit of genetic material, known as a gene, and the segments of DNA that provide instruction for producing specific proteins or enzymes. Each gene within the human body consists of a unique genetic code that is made up of different nucleotides, and individual genetic variations occur throughout the population. While some genetic variations do not produce noticeable negative effects, others are known to cause specific disease or conditions. Similarly, some genetic variations are known to impact an individual’s response to certain drugs. Pharmacogenetic tests seek out genetic variations within individual patients that are associated with responses to prescription medications, found in genes that are used to produce drug-metabolizing enzymes, medication targets, or the proteins involved in the immune system process. Healthcare providers use pharmacogenetics testing to determine which genetic variations are predominant, and this information is used to understand a patient’s future response to certain medications. Providers can perform pharmacogenetic testing prior to or throughout the duration of a drug treatment plan to help understand an individual’s potential drug response.

 

The study of pharmacogenetics and the process of pharmacogenetic testing is important to the future of healthcare as more prescription drugs come to market. Individuals who are in need of a drug treatment program for the management or cure of specific diseases can be negatively impacted by the adverse drug reactions that result from less than ideal medication regimens.  Pharmacogenetics helps alleviate the need for trial and error in the treatment of patients, and offers a way to strategically target care based on an individual’s genetic code.


In 2003, the medical world recognized the significant possibilities that would become available by the sequencing of the complete set of genetic information for humans, the human genome.  Francis Collins, the director of NHGRI (National Human Genome Research Institute), noted that the genome could be thought of in terms of a book with multiple uses: “It’s a history book – a narrative of the journey of our species through time. It’s a shop manual, with an incredibly detailed blueprint for building every human cell. And it’s a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease. 

Pharmacogenetics: The Key to Precision Medicine
Pharmacogenetics, an important component of precision medicine, is the application of how genes affect a person’s ability to metabolize drugs. In layman’s terms, precision medicine is a tool that helps your healthcare provider customize a medication treatment plan designed to provide individuals with the best possible outcomes while minimizing potential adverse drug reactions (ADRs). Providers and pharmacists have long understood that not every drug performs the same way for every patient. A medication that works well for one person can have harmful side effects for someone else. For example, some people may not break-down (metabolize) certain medications as expected. As a result, a dosage level that would be safe for most individuals would be toxic for these patients. Other individuals might process medications too quickly for the
drugs to have their intended effect.


Reduced Trial and Error
Precision medicine can help replace the trial and error process that exists today where providers prescribe drugs and dosage levels based on general population data, the one size fits all approach. Today, the DNA ANALYTICAL scientific team uses open array technology to identify 180 alleles present on 54 genes that determine if patients can metabolize the more than 1600 medications checked. When shared with your healthcare providers, your individualized DNA drug sensitivity test report will help them to create a more personalized medication therapy program.

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