Pharmacogenetics: A Game-Changer for Health

Pharmacogenetics have been widely recognized as fundamental steps toward personalized medicine. They deal with genetically determined variants in how individuals respond to drugs, and hold the promise to revolutionize drug therapy by tailoring it according to individual profiles. The same medication can affect each person differently. For one person, medication can work well and for others it might cause side effects. 

Pharmacogenetics is defined as the study of variability in drug response due to the genetic code. It argues that despite general recommendations, medications do not have the same effect on people. There are already some who expressly recommend genetic testing before any prescription of, for example, Warfarin, a type of anti-blood-clotting drug.

Why worry about drug response and variability?

I can explain the importance of this in three  examples:

1. Adverse drug reactions: (ADRs) regularly occur and cause about 7% of hospital admissions (30% in elderly patients). (Pirmohamed et al BMJ 2004)

2. Polypharmacy: There is an 88% likelihood of experiencing side effects if taking more than five medications.

3. Mental health: This is a main driver for development and application of a pharmacogenetic test. Statistics mention that “only 35% - 45% of depression patients have complete remission of their illness when initially treated with antidepressants” (Hall-Flavin DK, et al 2010)

Finding the right medication and dose is often a matter of trial and error.

The vision of personalized medicine is a promising one for the future of healthcare. It foresees the use of molecular data to better classify disease, to facilitate the development and validation of new targeted therapies, to treat patients with more specificity and efficacy but fewer adverse events, and to more accurately determine disease predisposition. This vision is driven by the results of the Human Genome Project (Lander et al., 2001; Venter et al., 2001) and of the HapMap Project (The International HapMap Consortium, 2005; The International HapMap Consortium, 2007). 

Pharmacogenetics and pharmacogenomics have been widely recognized as fundamental steps toward personalized medicine. They hold the promise to revolutionize how medicine is practiced. No longer will medicine focus, as it has historically, on symptomatic disease management and empirical drug-prescribing regimens but it will move to a new era of individualized medicine. The clinical need for novel approaches to improve drug therapy derives from the high rate of adverse reactions to drugs and their lack of efficacy in many individuals that may be predicted by knowledge of their specific genetic make-up (Wilke et al., 2007).

What are the benefits of performing a Pharmacogenomics (PGx) test?

Using the results from PGx testing, healthcare providers can individualize drug treatment selection and dosages for patients based on their genetic makeup. Testing patients prior to beginning treatment may help determine their response to certain drug classes and help avoid drugs that may be ineffective or cause harmful side effects. For patients currently on treatment, it may identify new treatment options or identify why current treatments aren’t working.

Advantages of PGx testing may include:

1. Decreasing and potentially eliminating the need for a “trial and error” approach to find an effective therapy and dosages.

2. Decreasing the number of adverse drug reactions a patient experiences.

3. Saving patients time and money on ineffective medications.

4. Decreasing the amount of time patients are on medication.

5. Improving patient quality of life by finding effective treatments faster.

6. Results of tests are relevant for a lifetime.

Which medications can be tested in the Pharmacogenomics Test?

Current Pharmacogenomics tests can include more than 144 drug response analysis and provide information on the next specialty medications. The benefit is higher in those treatments where there is a high probability of failure in treatment and also in chronic diseases that can involve a higher expense for a longer period of time of disease management. These specialties include:

1. Mental health

2. Cardiology

3. Pain management

4. Gastroenterology

5. Oncology

6. Neurology

7. Pediatrics

8. General surgery and others

How and where can a PGx test be performed?

A pharmacogenetics test can be done by providing a saliva sample to be analyzed by genetic sequencing and getting to know the functions of the main enzymes and genes related to each of the drug’s metabolism. 

After providing the results of the pharmacogenetics test, results should have an interpretation and follow-up with  a healthcare provider qualified/trained to understand the genetic results. Now, reports are very easy to understand by anyone, but it’s important to know if there are other medications that can influence the drug response, and the environment and lifestyle of the patient should be considered.

Pharmacogenetics tests can be recommended by a physician before prescribing a drug treatment and completed in the consultation office., Patients can also order it online. A sample collection kit is delivered to the patient’s address and the saliva sample is sent directly to a laboratory to have it analyzed. Results are delivered directly to a physician to start the evaluation and individualization of drug treatment. 

At nutriADN, we have started the promotion of an individual approach toward preventive care and precision medicine. We have introduced to the market a comprehensive pharmacogenetics test called PharmaTest, that is now used by healthcare professionals to avoid “trial and error” treatments, provide certainty in the success of treatment and also, impact positively on the budget of patients. Medicine can and should be individualized to all patients. We all respond in different ways to general recommendations and guidelines and a one-size-fits-all approach should be modified to a model in which we start treating the patient, not the disease.