Pharmacogenomics is a hot topic that more and more people are talking about. Judging from the name alone, it can be deduced that it has something to do with both pharmacy and genetics. What exactly is the impact it could make towards personalization and precision medicine, and what is so special about it? Let’s delve into this topic and find out.

What is Pharmacogenomics?

Pharmacogenomics is essentially the study of how a person’s genetic makeup determines how they will respond to medications.¹ It’s linked to the field of precision medicine that focuses on each patient individually.

Its potential lies in the ability to use a person’s genetic information that is uniquely theirs to predict the response they will have to any drug while continuing to further optimize even dose selections once the drugs have been carefully selected.³ The end goal is fully personalized treatment that is cost-effective, safe, and improves health outcomes for the individual and to know whether or not the medication will work ahead of time.

Genes and Medication

Our genes affect the way our body responds to a drug. Drugs interact with our body in multiple ways, and certain proteins or enzymes present in our body affect how these drugs will work. Pharmacogenomics analyzes the variations among our genes to find these proteins and what effect they will have on the drug’s safety and effectiveness in the body.¹

Examples of how our genes can affect how we respond to a drug:²
1) Drug Receptors on Cell Surfaces
○ What type and how many receptors we have
○ Affects the intensity of response or no response to a drug
2) Drug Uptake into Tissues and Cells
○ How well the drug is taken up into tissues and cells (normal=drug works as expected and/or should)
○ Less uptake means the drug isn’t working as well as it should and may accumulate and cause problems
○ Increased uptake could cause adverse effects
3) Drug Breakdown by Enzymes
○ How quickly the body breaks down and gets rid of a drug
○ Might need less of a drug if the body breaks it down slowly
○ Might need more of a drug if the body breaks it down quickly

The Benefits and Drawbacks

The Food and Drug Administration (FDA) has pharmacogenomic information on the labels of more than 100 medications. This to assist doctors and other healthcare professionals when prescribing drugs pertaining to the dose, side effects, and potential effectiveness for those with certain gene variants.1 Medications with pharmacogenomic considerations include warfarin, clopidogrel, escitalopram, and codeine, to name a few. More examples can be found here.

Drug companies are using pharmacogenomics for developing and marketing drugs in use for patients with certain genetic variants for maximum therapeutic benefit. In addition, once gene variants are identified in patients, doctors are then able to select the appropriate and optimal medication along with the dose for that specific patient. Moreover, if these genes were to cause side effects from a certain drug, that drug can be avoided and prescribed only to those who don’t have those genes.

There are potential advantages to using pharmacogenomics such as optimized drug selection, improved treatment outcomes, enhanced safety, avoidance of trial and error approach when it comes to selecting a medication, and improved cost effectiveness due to not having to try multiple medications and/or treatments.

However, that’s not to say it’s all a flawless process. There are certain ethical and legal factors to be considered when it comes to pharmacogenomics. A patient’s autonomy along with their right to privacy are serious matters of consideration. Potential bias and discrimination could also occur through underrepresentation of certain groups in the data, or by making clinical decisions based on the data but failing to consider individual patient factors. Taking the proper steps to obtain informed consent and maintain patient confidentiality are key.

The Takeaway

Understanding pharmacogenomics can improve treatment methods and selection down the line, especially when they’re tailored to a patient’s own unique genetic profile. The field is still growing, but it’s growing quickly and there is still much to embrace in terms of knowledge, evidence, and implementation. Yet, with this personalized approach, healthcare providers such as pharmacists are at the forefront of being involved in delivering treatment that may be safer, more effective, and individualized for each patient.

Midrara Kashmari

RxPharmacist Team

References:

1. National Institute of General Medical Sciences (NIGMS). National Institute of General Medical Sciences (NIGMS). Published 2022. https://nigms.nih.gov/education/fact-sheets/Pages/pharmacogenomics.aspx#:~:text=Pharmacogenomics%20(sometimes%20called%20pharmacogenetics)%20is.
2. Centers for Disease Control and Prevention. Pharmacogenomics: What does it mean for your health? CDC. Published 2019. https://www.cdc.gov/genomics/disease/pharma.htm.
3. Krebs K, Milani L. Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good. Human Genomics. 2019;13(1). doi:https://doi.org/10.1186/s40246-019-0229-z.

There’s a certain Latin saying that goes, “It is better and more useful to meet a problem in time than to seek a remedy after the damage is done.” If you’re not familiar with it, don’t fret. You’re probably more familiar with the short and sweet version of it: “Prevention is better than cure”, said by a certain Dutch philosopher. Well, however old the saying may be, it’s certainly timeless.

Prevention is the cornerstone of good health, and health screenings play a big part in that by identifying potential health concerns early on. Pharmacists play a vital role in health screenings that may commonly be observed in communities. We’ll dive into the importance of health screenings, the different types of screenings, and the role that pharmacists play in these scenarios.

Why Health Screenings Matter

As commonly said in healthcare, “the earlier the detection, the better the health outcome.”1 Partaking in health screenings is a proactive step towards taking care of oneself. The primary advantage lies in the ability to catch potential health concerns before they become problematic. By identifying risk factors and early signs of conditions, individuals take matters into their own hands by making such decisions and taking action to improve their health.

Types of Health Screenings

There are various health screenings available to patients that are offered by pharmacies. The most common screenings include blood glucose testing, blood pressure monitoring, and total cholesterol checks. Other health screenings that are not usually offered at pharmacies but still utilize involvement from pharmacists are for mental health conditions, osteoporosis, opioid use disorders, and sexually transmitted disease (STDs).^2,3

Ask The Pharmacist for Help

Pharmacists are well equipped to guide patients through the entire health screening process. They are allies when it comes to disease prevention, especially for the most common health conditions of diabetes and blood pressure. Not only are pharmacists able to help patients understand what their results mean, but they are able to recommend certain lifestyle changes and even provide counsel on necessary follow-up steps for further care. Pharmacists are trusted healthcare professionals and easily accessible to patients when it comes to who to ask regarding their medications AND when it comes to their health as a result of health screenings.³

The Bottom Line

Through early detection, education, and collaboration with patients and healthcare professionals, pharmacists can help manage and prevent health issues for all patients. Patients themselves can take matters into their own hands and improve their own health by taking the necessary steps for management such as partaking in health screenings. Moreover, pharmacies can continue to be known not only as the place to get medications from, but also the place to seek out for taking steps toward disease prevention. Being proactive will pay off in the long run, so don’t hesitate to get that screening and talk to the pharmacist. Your future self may thank you one day.

Midrara Kashmari

RxPharmacist Team

References:

1. Givler DN, Givler A. Health Screening. Nih.gov. Published 2019. https://www.ncbi.nlm.nih.gov/books/NBK436014/.
2. Get Screened – MyHealthfinder | health.gov. health.gov. https://health.gov/myhealthfinder/doctor-visits/screening-tests/get-screened.
3. Jennifer Gershman P. Pharmacists Play Vital Role in Health Screenings. wwwpharmacytimescom. 2022;88. https://www.pharmacytimes.com/view/pharmacists-play-vital-role-in-health-screenings.

We all know the general idea about how medications work, right? Drugs that save lives, control diseases, and even prevent or delay certain ones from developing in the first place. In addition, not only do they come in various forms, but they’re also taken into the body in ways other than the mouth. It’s fascinating to see the evolution of drugs over the years and the invention of new ones. What’s even more fascinating is the way that these magic bullets work in the body. Thanks to the brilliant teamwork of pharmacokinetics and pharmacodynamics, drugs are able to do what they do. Let’s navigate these concepts together.

Pharmacokinetics: The Body’s Effect on the Drug

Pharmacokinetics has to do with what the body does to a drug and involves 4 processes: absorption, metabolism, distribution, and excretion.¹

Step 1: Absorption

• Once a drug is administered, (via the oral, intravenous, intramuscular, subcutaneous etc. routes) it enters systemic circulation. The method of administration has its own characteristics of absorption which affect the speed and amount of drug that reaches the desired location of effect.

Step 2: Distribution

• The drug travels through the blood to be dispersed throughout the tissues. How well it gets distributed depends on the biochemical properties of the drug and the physiology of the person. The end goal is to achieve effective drug concentration at the desired destination.

Step 3: Metabolism

• Most drugs pass through to the liver which is the main site of drug metabolism. Active drugs are either converted to inactive forms that are more hydrophilic to move on to renal clearance, or in the case of a prodrug, it is subsequently converted into active metabolites.

Step 4: Excretion

• The drug reaches the final step in its journey through the body where it can now be removed. The kidneys usually perform this major function with the drug excreted via urine. Other forms of excretion are bile, sweat, or stool.

Pharmacodynamics: The Drug’s Effect on the Body

Pharmacodynamics has to do with what the drug does to the body and involves the drug’s characteristics and physiological effects. Drugs produce effects by interacting with the body either through direct or indirect means. Direct effects result from the direct interaction of the drug with a receptor or enzyme that produces the effect. Indirect effects result from an interaction of the drug with a receptor or protein somewhere else that produces the desired effect. The interaction with specific receptors, enzymes, or molecules is what leads to desired therapeutic effects or undesired side effects.

The Balancing Act

It’s not enough to select the right drug. Finding the right dose is also key. It is essentially a balancing act. Too much of a drug can be toxic while too little may not produce the intended effect. Considering factors such as the drug’s physical and chemical properties, the characteristics of the patient it’s being given to (because no two individuals are the same), and the correct dose and dosage form of the drug are all paramount to achieving balance and the desired result. The teamwork between pharmacokinetics and pharmacodynamics is a captivating spectacle that simply could not work without each working alongside the other.

Midrara Kashmari

RxPharmacist Team

References:

1. Grogan S. Pharmacokinetics. PubMed. Published 2020. https://www.ncbi.nlm.nih.gov/books/NBK557744/.
2. Marino M, Zito PM. Pharmacodynamics. PubMed. Published 2020. https://www.ncbi.nlm.nih.gov/books/NBK507791/.

The small, butterfly-shaped thyroid gland is in the neck and packs a punch when it comes to regulating the body’s metabolism. But what happens when it’s no longer balanced? What happens when it is working too hard or not hard enough? Let’s explore the difference between two common thyroid disorders- hypothyroidism and hyperthyroidism.

Hypothyroidism: An Underactive Thyroid

Hypothyroidism has to do with the thyroid’s inability to produce enough thyroid hormone.¹ The most common cause of hypothyroidism is Hashimoto’s disease, an autoimmune disorder where antibodies attack the thyroid gland.² There is a deficiency in the T4 hormone (thyroxine) that causes an elevation in thyroid-stimulating hormone (TSH). TSH regulates thyroid hormone production. Because of the deficiency, the body compensates by trying to produce more thyroid hormone, hence the elevated TSH. When T4 is low, the body slows down. This results in fatigue, weakness, weight gain, cold intolerance, dry skin, constipation, and so on.² Hypothyroidism is more common than hyperthyroidism and occurs more often in females.

Hyperthyroidism: An Overactive Thyroid

On the other hand, hyperthyroidism is the complete opposite. The most common cause of hyperthyroidism is Graves’ disease which is also an autoimmune disorder where antibodies stimulate increased thyroid production of the T4 hormone.² There is an increase in T4 hormone that causes TSH to be low. When T4 is high, the body speeds up. This results in anxiety, tremor, fatigue, weakness, weight loss, heat intolerance, frequent bowel movements, and so on.² Hyperthyroidism is more common among females of older age.

Diagnosis and Treatment

Making an accurate diagnosis is crucial as both conditions involve the thyroid, and some symptoms may appear similar even though there is still a difference. Measuring thyroid hormone levels via laboratory blood tests will confirm diagnosis.

Treatment for hypothyroidism involves thyroid hormone replacement such as levothyroxine (Synthroid) or liothyronine (Cytomel), while treatment for hyperthyroidism involves antithyroid medication such as Propylthiouracil (PTU) or methimazole, surgery, or using radioactive iodine to destroy part of the gland.²

Pharmacists play a role in managing these disorders through collaboration with other healthcare providers. Such actions involve providing dosing guidance, counseling patients on medication usage and side effects, offering recommendations for symptom management, and addressing potential complications of not treating the disorder that could result in cardiovascular and fertility issues alike. They can also monitor drug interactions and educate patients on the importance of medication adherence.

In Summary

Hypothyroidism and hyperthyroidism- two sides of an imbalanced thyroid gland have a profound effect on the body. To understand and manage each condition, appropriate understanding is required as to what makes them different, what symptoms to watch out for, and how to treat each condition accordingly to achieve thyroid balance once more.

Midrara Kashmari

RxPharmacist Team

References:

1. Hypothyroidism vs. hyperthyroidism: What’s the difference? NIH MedlinePlus Magazine. https://magazine.medlineplus.gov/article/hypothyroidism-vs-hyperthyroidism-whats-the-difference.
2. Hyperthyroidism vs. Hypothyroidism: Here’s How to Tell The Difference | Hartford HealthCare | CT. hartfordhealthcare.org. https://hartfordhealthcare.org/about-us/news-press/news-detail?articleid=32994&publicId=395.

Drug development is an extensive process that takes time to be completed. Depending on which therapeutic area the drug is being developed for, more specifically, which disease it is targeting, the process might be slightly faster or slightly slower. To give you an idea, on average, it can take over 10 to 15 years for a drug to be developed. Especially now, with new technology and innovative thinking, many of us don’t understand why it takes so long for a drug to be developed. To better understand this process, let’s take a look at some of these steps. There are 5 core stages of drug development: discovery and development, preclinical research, clinical research, Food and Drug Administration (FDA) drug review, and FDA post-market drug safety monitoring.

Discovery and Development

Preclinical Research

Clinical Research

FDA Drug Review

FDA Post-Market Drug Safety Monitoring

These stages show just how long the process and steps are for drug development. If you want to learn more in detail about each process, the FDA has a great section on the drug development process. Also, the FDA has a section on novel drug approvals. In that section, it includes the FDA’s Center for Drug Evaluation and Research (CDER) approval of many new drugs and biological products. That list doesn’t include approvals of all products, but it does include new molecular entities and new therapeutic biological products. It is an incredible list to see exactly how many drugs get approved yearly.

It is fascinating to witness how many drugs undergo development, especially in recent times. Hopefully, in the future, we will continue to see innovative processes that move medicine forward. Overall, drug development is an extensive process that includes many stages and phases which shows just how much time it takes for everything to be completed to have an end product that is safe and effective.

Dagmara Zajac

RxPharmacist Team

References: