Pharmacogenomics was a term the staff at Hughes Health and Rehabilitation had not heard of before. While the meaning was a mystery, staff could deduce that it obviously had something to do with pharmacology and genomics. 

After some discussion, questions followed: What are genomics and how do they relate to residents’ treatment? The psychiatric consultants at Hughes Health were enthusiastic about this innovation and recommended that a speaker address the organized medical staff. 

Intrigued by the concept, the staff invited an expert speaker to talk more about it. It was at that meeting that the staff learned how a patient’s genetic makeup can impact the effectiveness of pharmacological treatment modalities.

According to the National Institutes of Health, pharmacogenomics is the study of how genes affect an individual’s response to drugs. Relatively new, it combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses tailored to a person’s genetic makeup.

Why Pharmacogenomic Testing

So, one might ask why long term and post-acute care (LT/PAC) centers have an interest in pharmacogenomics testing. First of all, it allows the physician or other prescribing provider to identify those medications that are most likely to have the desired effect on the patient. Indeed, research has shown that patients who suffer from depression show improvement in depressive symptoms. 

A clinical study of 165 subjects with a primary diagnosis of major depressive disorder compared 8 weeks of treatment guided by pharmacogenomics testing to unguided "treatment as usual" (TAU).  The clinical outcomes of the study showed that patients experienced 70 percent greater improvement in depressive symptoms when pharmacogenomics testing guided their treatment.  

Hughes Health staff have been working with a pharmacogenomics test that evaluates how individuals’ genes (genomics) affect certain medications that they take, or may take. Individuals respond differently to medications. What’s been learned is that their genetic structure plays an important role in why that occurs.

This testing has been commercially available for years. Specifically, a person’s genetic information is analyzed along with known drug pharmacology to determine which medications may be more likely to be effective for a patient and less likely to cause unwanted side effects.

The second benefit of testing is that unwanted side effects of the medications can be substantially reduced because the treatment modality has been customized to fit with the patient’s DNA structure. When a provider orders a medication for a patient, there is a chance that the medication will not work as effectively as the patient needs or that it may produce unwanted side effects. Hughes staff have found that by using the testing they can substantially reduce polypharmacy because it eliminates trial and error prescribing, and has a direct impact on reducing unnecessary medications.

As a result of the reduction of polypharmacy, staff also believe that there will be a reduction in falls. Because the testing reduces unnecessary medications there can be a tremendous impact on cost.

How It Works
The testing process is simple. It can be performed at any time during the day simply by swabbing the inside of the patient’s cheek and sending it to the laboratory for evaluation. Results are received in 36 to 48 hours.

The results categorize potential treatment options (medications) into three zones. The green zone contains medications that are most likely to work effectively. It is labeled, “Use as directed.” The yellow zone in all probability will have a moderate effect and should be used with caution. The red zone indicates that there is significant gene-drug interaction. 

Clincal considerations are also provided, such as serum levels being too low or too high so that dosages may need to be adjusted. Risk of increased side effects may be noted. There may also be an FDA label that identifies a potential gene-drug interaction for a particular medication.

As an administrator, the first question that came to mind had to do with the cost of the testing. Considering the process, one imagines it could not be inexpensive. Surprisingly, there was so much positive clinical evidence supporting pharmacogenomic testing that both Medicare Part B and Medicaid pay for the testing.

While this testing is used broadly in the treatment of psychiatric diagnoses, particularly depression, staff have also used it effectively with pain management. It also has implications in the treatment of cardiovascular disease. 

Results that Count

Hughes Health has utilized the testing with approximately 25 patients so far, with remarkable results. Anecdotally, one patient, named Olga, for years struggled with bipolar disorder with depressive features. At times she would spend days in bed, refusing to engage in activity and struggling with loss of appetite.

She underwent the testing and, based on the results, a medication change was ordered. Within a three-week period, Olga began to initiate participation in activities on and off the unit. She began to show interest in herself, particularly her hygiene and attire. She also began socializing with both peers and staff and has ​maintained these interests for the past year. This was a life-changing event for Olga, and it has sustained her since then.

Although this concept is in practice throughout the country, its use in the LT/PAC profession is relatively new. Speaking from experience at Hughes Health and Rehabilitation, staff have recognized its potential and are excited about what they have seen so far. Families are showing tremendous enthusiasm also because not only do they see how it has impacted their loved ones, but they see that the results can assist them also in the treatment of disease. 

A treatment approach that customizes medical care in this way warrants every LT/PAC facility to conduct its own trials.

Clinical efficacy, reduced polypharmacy, reduced falls, reduced side effects, and reduced hospitalizations are just some of the benefits of testing. Pharmacogenomic testing was a brand new and innovative concept for Hughes Health and Rehabilitation. Indeed, this program is in its relative infancy. And while it is used in limited situations currently, future applications are truly limitless. The overall impact it will have is exciting and truly revolutionary. 

Mark Finklestein is administrator of Hughes Health and Rehabilitation in West Hartford, Conn. He can be reached at