Are Your Drugs Right for You? Discover Pharmacogenomics and Find Out!
Imagine this: you’re caring for a loved one who starts to have memory problems, struggles to find their words, and seems more confused than ever. Doctors diagnose them with dementia, but what if there’s more to the story? What if a simple test could reveal that your loved one’s symptoms are actually due to a genetic reaction to their medication, not dementia at all? This is a real-life scenario happening to people right now.
Today, I had the pleasure of sitting down with my friend and neighbor, Dr. Adrijana Kekic, one of the world’s top pharmacists, to discuss pharmacogenomic testing. This cutting-edge approach allows us to tailor medications to an individual’s genetic profile, ensuring the right drug at the right dose for the right person. This conversation was eye-opening, and I learned so much about the future of personalized medicine.
Meet Dr. Adrijana Kekic: A Pioneer in Pharmacogenomics
Dr. Adrijana Kekic is a pharmacist by training and a Doctor of Pharmacy. She specializes in pharmacogenomics, which is the study of how our genes influence our response to medications. With decades of experience in the pharmacy field, Dr. Kekic is board certified in ambulatory care and has a particular interest in psychopharmacology—the study of how drugs affect the brain and mind. She lectures on this subject to both medical and pharmacy students, sharing her passion for understanding the genetic factors that impact drug efficacy and safety.
Why Pharmacogenomics Matters
So, why is pharmacogenomics so important? Just as we differ in physical traits like eye color and build, we also differ in how we react to medications. Our genetic makeup significantly influences how we react to medications. A drug that works well for one person might cause severe side effects or be ineffective for another. Pharmacogenomic testing helps identify these genetic differences, ensuring each person receives the safest and most effective medications tailored to their unique genetic profile.
A Personal Story: The Power of Pharmacogenomics
Dr. Kekic shared a personal story about her father, who had colorectal cancer. His oncologists recommended genetic testing of his tumor to identify mutations that might affect drug efficacy. They also pursued pharmacogenetic testing to understand how his body would metabolize the medications. Despite receiving the correct treatment for cancer, her father developed severe side effects. The pharmacogenetic testing revealed a rare genetic mutation that made the cancer drug toxic for him. This insight allowed them to switch to a different medication, significantly improving his condition.
The Impact of Pharmacogenetic Testing
Pharmacogenetic testing doesn’t just look at one gene; it examines multiple genes relevant to drug metabolism. This comprehensive approach provides insights into how a person’s body will respond to hundreds of different drugs. For example, Dr. Kekic discovered that her father had a genetic variant affecting his ability to metabolize codeine, leading to severe side effects like shortness of breath. Understanding this allowed them to avoid codeine and choose safer alternatives.
Pharmacogenomic testing is distinct from genetic testing for specific diseases like rare forms of Alzheimer’s. Pharmacogenomic testing focuses on how the body processes drugs. It can identify genetic variants that increase the risk of adverse reactions to certain medications, such as blood clots from hormone replacement therapy.
Personalized Medicine: Moving Beyond Guesswork
Without pharmacogenetic testing, prescribing medication often involves a lot of guesswork. The same medication might work wonders for one person but cause severe side effects or be ineffective for another. This variability is largely driven by genetics. Pharmacogenomic testing provides a roadmap for personalized medicine, reducing the risk of adverse reactions and improving treatment outcomes.
While genetics isn’t the only factor influencing drug response—other medications, health conditions, and environmental factors also play a role—having genetic information provides a critical foundation for making informed decisions about medication.
Why Isn't Pharmacogenomic Testing Standard Practice?
If our genetics significantly impact how we react to medications, why isn’t pharmacogenomic testing standard practice for everyone? This testing could prevent adverse reactions and ensure medications are effective. It seems like a no-brainer, right?
Dr. Kekic explained that despite the clear benefits, genetic literacy remains low among healthcare providers. Many doctors and pharmacists are not yet fully educated on the implications and benefits of pharmacogenomic testing. This lack of knowledge can lead to hesitation in ordering these tests, even though they can provide critical insights into how a patient might respond to medications.
Challenges and Considerations in Pharmacogenomic Testing
Have healthcare providers ever been reluctant to order pharmacogenomic testing? Yes, this reluctance is not uncommon. The reasons for it are multifaceted and reflect the broader challenges within the healthcare system.
Reluctance Among Providers
Several reasons why providers might hesitate to order pharmacogenomic testing include:
- Low Genetic Literacy: Many physicians are not adequately educated about genetic testing and its benefits.
- Skepticism and Misinformation: There is a plethora of direct-to-consumer genetic tests, many of which make dubious claims.
- Liability Concerns: Providers might worry about the legal implications of ordering and interpreting genetic tests.
How to Access Pharmacogenomic Testing
For those interested in pharmacogenomic testing, here’s some practical advice. Testing can be done through a physician, hospital, clinic, or even direct-to-consumer options. However, it’s crucial to understand what you’re getting into with direct-to-consumer tests. It’s important to read the fine print and perhaps consult with a pharmacist or physician to ensure you’re getting a reliable test.
Pharmacogenomic testing is typically a one-time test because our genetic makeup doesn’t change over time, much like our eye color. The cost of the test ranges from $200 to $500, which is a practical investment considering the potential benefits. Even if insurance doesn’t cover it, many patients find it worthwhile to pay out of pocket. Fortunately, insurance companies are starting to recognize the value of these tests, given the overwhelming evidence and guidelines now supporting their use.
In the long run, pharmacogenomic testing can save money for both patients and insurance companies. Studies have shown that the money saved by preventing adverse drug reactions and ineffective treatments far outweighs the cost of the tests and their interpretation. Insurance companies are beginning to catch up, incorporating guidelines that recommend dose adjustments or alternative medications based on genetic findings.
Pharmacists: An Underutilized Resource
Pharmacists are an excellent resource for understanding pharmacogenomic testing. Pharmacogenomic testing focuses on how your body processes drugs rather than predicting disease risk. Most pharmacists, especially in community settings, have the knowledge to interpret these tests and explain how certain medications might interact with your genetic makeup.
Legal Protections and Direct-to-Consumer Testing
A crucial concern is the potential implications of genetic testing on insurance eligibility. In the United States, the Genetic Information Nondiscrimination Act (GINA) protects individuals from discrimination based on their genetic information. This means that your employer or health insurance company cannot use your genetic information against you.
However, there are caveats. Avoid direct-to-consumer genetic testing platforms that might sell your genetic information to third parties. Ensure that your genetic data is handled with the utmost confidentiality. Stick to reputable institutions that prioritize patient privacy and protection from third-party access.
Practical Steps for Getting Tested
For those interested in pharmacogenomic testing, the process can start with your physician or pharmacist. You can also look into testing through hospitals, clinics, or direct-to-consumer options, but it’s crucial to do your research and understand what you’re getting. Testing is typically a one-time procedure, and the results remain valid for life, as your genetic makeup doesn’t change.
Here are two key steps for anyone considering pharmacogenomic testing:
- Finding a Reputable Source for Testing: It’s crucial to choose a reliable and safe provider for genetic testing. This could be through a physician, a hospital, or a trusted direct-to-consumer service. Always research and verify the credibility of the testing platform.
- Ensuring Providers Can Interpret the Results: Having the genetic test results is just the beginning. It’s essential to have healthcare providers who understand these results and can make informed decisions based on them. Pharmacists, in particular, can be valuable resources in this process, given their expertise in medications and their interactions.
The Art and Science of Medicine
While genetics is a powerful tool, it is not the sole determinant of how medications work. Medicine is both a science and an art. Factors such as environment, diet, and lifestyle also play significant roles in how individuals respond to medications.
One major issue, especially among the elderly, is drug-drug interactions. Many older adults take multiple medications to manage chronic conditions like high blood pressure, diabetes, and anxiety. Over-the-counter medications and supplements can further complicate this, creating a complex mix that the body must process. Pharmacogenomic testing can help untangle some of this complexity by providing insights into how these various substances interact with a person’s unique genetic makeup.
For example, Dr. Kekic shared a remarkable case where a patient had been treated for dementia for over a year. The patient exhibited severe confusion, reduced mental acuity, and other dementia-like symptoms. After conducting pharmacogenomic testing, they discovered that the patient did not have dementia at all. Instead, she had been prescribed a medication that her body could not metabolize properly, leading to toxic buildup and severe side effects. Once they stopped the medication, her symptoms resolved, demonstrating how pharmacogenomic testing can significantly impact diagnosis and treatment.
Addressing Overmedication in Dementia Care
Dr. Kekic emphasized the importance of avoiding overmedication, particularly in dementia care. As people age, their bodies’ ability to metabolize medications changes. Factors such as hormonal changes, organ function, and overall health can significantly impact how drugs are processed. Overmedication can lead to adverse effects, especially in elderly patients who often take multiple medications for various chronic conditions.
The Importance of Self-Advocacy
As a final takeaway, Dr. Kekic urged patients and caregivers to advocate for themselves. The medical system can be overwhelming, and it’s easy to become complacent. However, staying informed about emerging technologies and being proactive about one’s health can lead to better outcomes. It’s crucial to avoid unproven treatments and rely on reputable sources.
Conclusion
Pharmacogenomic testing represents a significant step towards personalized medicine, offering the potential to tailor treatments to individual genetic profiles and avoid adverse drug reactions. As genetic literacy improves among healthcare providers and more patients advocate for these tests, the future of healthcare looks promising.
If you’re considering pharmacogenomic testing for yourself or a loved one, start by talking to your primary care provider. Research reputable testing platforms and ensure your chosen service is certified and reliable. Look for certifications such as CLIA (Clinical Laboratory Improvement Amendments) and FDA approvals to ensure the credibility of the testing service. By taking these steps, you can pave the way for more effective and personalized treatments, enhancing the quality of care for you and your loved ones.
Careblazers: It’s my goal to get this testing done by the end of the year. What about you? Do you think this is something that would be helpful for you or your loved ones? I’d love to hear your thoughts. Leave your comments below.
*Disclaimer: The viewpoints expressed by Dr. Adijana Kekic in this video are based on her personal and professional experiences. They do not represent the views or policies of her institution. Dr. Kekic provides her insights independently to share her expertise in pharmacogenomics and its impact on healthcare.
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