Understanding Pharmacogenetics and Pharmacogenomics (PGx)


Pharmacogenetics is the study of genetic variations that influence individual responses to drugs.  Knowing whether a patient carries any of these genetic variations can help prescribers individualize drug therapy, decrease the chance for adverse drug events, and increase the effectiveness of drugs.

Pharmacogenomics combines traditional pharmaceutical sciences (such as biochemistry) with an understanding of common DNA variations in the human genome. The most common variations in the human genome are called single nucleotide polymorphisms (SNPs). There is estimated to be approximately 11 million SNPs in the human population, with an average of one in every 1,300 base pairs.  An individual's response to a drug is often linked to these common DNA variations. In a similar manner, susceptibility to certain diseases is also influenced by common DNA variations. Currently, much of the research in the field of pharmacogenomics is focused on genes encoding either metabolic enzymes that can alter a drug's activity or defective structural proteins that result in increased susceptibility to disease.

The Value of PGx:


In recent years pharmacogenetic testing as a routine clinical tool in patient care has become more commonplace. Advances in technology have made testing more accurate, quicker to implement in a clinical laboratory setting, and less costly. These factors, combined with great strides in the interpretation of genetic data have led to a revolutionary way in how a physician approaches patient care.

Recent studies have shown that PGx can decrease healthcare costs while simultaneously improving clinical outcomes. Mitigation of costly trial and error periods when trying to select a new pharmacotherapy, as well as mitigation of costs associated with treating adverse drug events and serious drug interactions, have emerged as new cost-saving tools.

The Benefits of Pharmacogenomics:

Pharmacogenomics has the potential to provide tailored drug therapy based on genetically determined variation in effectiveness and side effects. This will mean:


MORE POWERFUL MEDICINE

Pharmaceutical companies will be able to produce therapies more targeted to specific diseases, maximizing therapeutic effects while decreasing damage to nearby healthy cells.


BETTER, SAFER DRUGS THE FIRST TIME 

Recovery time will go down and safety will go up as the likelihood of adverse reactions goes down or is eliminated altogether.


MORE ACCURATE METHODS OF DETERMINING APPROPRIATE DRUG DOSAGES

Current methods of basing dosages on weight and age will be replaced with dosages based on a person's genetics -- how well the body processes the medicine and the time it takes to metabolize it.


 Statistics on Adverse Drug Events (ADE):

 

  • 82% of American adults take at least one medication and 29% take five or more (CDC).
  • 4th leading cause of death, Ahead of pulmonary disease, diabetes, AIDS, pneumonia, accidents, and automobile deaths (FDA).
  • Nearly 120,000 patients each year need to be hospitalized for further treatment (CDC).
  • ADEs cause injuries or death in 1 of 5 hospital patients (New England Journal of Medicine).
  • Over 100,000 people die each year due to ADEs (FDA).
  • ADEs cause over 700,000 emergency department visits each year (CDC).
  • $3.5 billion is spent on extra medical costs dues to ADEs annually (CDC).


Frequently Asked Questions (FAQs):


What is Pharmacogenetics and what does it mean for you?
Pharmacogenetics refers to the use of an individual’s genetic information to predict responses to medications or therapies. The theory is that using pharmacogenetic information will allow us to better predict which medications patients will respond to and who will be more or less likely to have side effects from these medications. This is a variation from our current practice of medicine in which most adult patients are started on the same dose of medication regardless of their age, gender, weight, or other individual characteristics. Because this approach holds the promise of providing more specific information than is currently available to predict response to medications and adverse drug events, there is a lot of excitement and enthusiasm to incorporate this approach into the standard practice of medicine. As you might imagine, this approach has the potential to decrease drug costs due to trial-and-error approaches, decrease hospitalizations due to adverse drug events, and improve overall patient satisfaction and compliance.

What are the challenges to using pharmacogenetics in clinical practice now?

  1. Drug response is influenced by both genetic and environmental factors. In order to develop clinical practice guidelines, there must be a clear relationship between the genotype (genetic information) and the phenotype (what the patient experiences)
  2.  Most drugs for which pharmacogenetics is clinically relevant have a narrow therapeutic window, meaning that the therapeutic dose range for these drugs is small and slight variations out of the normal range can have adverse effects. If a drug has little adverse effect over a wide range of doses, knowledge of pharmacogenetics is not likely to be helpful.
  3. Pharmacogenetic information is most useful if there is one critical step in the drug response pathway that is controlled principally by a single gene, such that if that gene has multiple pathways involved, the relationship is less clear.


How do we plan to incorporate PGx in general into the standard practice of medicine?
The greatest limitations to clinical adoption and integration of this information are the need for studies to show clinical validity and utility, the enormity of information in the field of personalized healthcare, and time.


CLINICAL TRIALS

We plan to participate in clinical trials to prove clinical utility and validity of personalized healthcare approaches


EDUCATION AND AWARENESS

Through our education and awareness campaign, we aim to teach and educate our medical community about personalized healthcare approaches and how they might use this information in their practices today


TIME

We recognize that physicians have limited time in their practices. We recognize that if we hope to use PGx information in our daily practices of medicine, we need to leverage the use of our electronic health records to help us keep track of this information and give us useful recommendations.

Physician Practices
ACOs
Hospital Groups
Post Acute Care

Our Services

Our core focus is the patient – improving quality of life through education and awareness. We believe that our wellness initiatives will enable you to grow practice profitability and support positive patient outcomes.  We hope you will join us by participating in this worthwhile effort. We are thrilled to offer a program that will focus on the well being of your most valuable asset—your patients. ​


Our Goal

Preventive Services

Chronic Care Management

Pharmacogenetics



 

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