Running Out of Excuses: Why Pharmacogenomics Must Be the Future of Medicine

In the age of personalized technology, from curated playlists to AI-driven recommendations, it is baffling that medicine—the discipline tasked with preserving human life—still largely adheres to a one-size-fits-all approach. For years, doctors have prescribed medications based on population averages, often overlooking a powerful tool that could transform patient care: pharmacogenomics. This field, which tailors treatments to a person’s genetic makeup, has the potential to reduce adverse drug reactions, improve therapeutic outcomes, and save billions of dollars in healthcare costs. Yet, its adoption remains frustratingly slow, with dire consequences.

The Cost of Sticking to the Status Quo

Adverse drug reactions (ADRs) are among the leading causes of death globally. In the United States alone, the Food and Drug Administration estimates that 1.3 million people are affected by ADRs annually, with over 100,000 fatalities. Worldwide, these numbers climb even higher. The World Health Organization reports that medication-related harm is responsible for a significant portion of patient injuries, particularly in low- and middle-income countries where monitoring systems are less robust.

The financial toll is equally staggering. A study published found that medication errors and ADRs cost healthcare systems an estimated $42 billion globally each year. In the U.S., hospital admissions due to ADRs account for roughly $30 billion annually. These figures do not even include indirect costs, such as lost productivity, extended recovery times, and the psychological burden on patients and their families.

The Human Toll

Behind these numbers are real people—patients who trusted that their prescribed medications would heal rather than harm them. Take the case of a 45-year-old woman prescribed a commonly used antidepressant. After weeks of worsening symptoms, her doctor discovered that her genetic profile made her a poor metabolizer of the drug, leading to toxic levels in her bloodstream. This revelation came too late; she had already suffered severe side effects and abandoned treatment altogether.

Such scenarios are far from isolated. Non-adherence to medications, often driven by intolerable side effects, is a silent epidemic. Studies show that up to 50% of patients do not take their medications as prescribed. Many are unwilling to report these issues to their healthcare providers, fearing judgment or dismissal. The result is a vicious cycle of untreated conditions, worsening health, and escalating costs.

Pharmacogenomics: A Proven Solution

Pharmacogenomics offers a way out of this quagmire. By analyzing a patient’s genetic makeup, healthcare providers can predict how they will respond to specific drugs. This information enables the selection of medications and dosages that are more likely to be effective and less likely to cause harm.

The evidence is compelling. A study published in The lancet, the three-year PREPARE study – pharmacogenomic testing for preventing adverse drug reactions – used a single Gene-Panel deployed across seven European countries, that was designed with common drug-gene side effects. The PREPARE study’s gene panel looked for variants in 12 defined genes that have known drug interactions. The researchers recruited almost 7,000 patients to take part in the study. They were randomized between groups, which were either given standard treatment or had their prescriptions adjusted based on their test result. After a period of time, patients were asked to self-report on any adverse drug reactions or side effects they had.

The researchers showed a 30% reduction in adverse reactions to common clinically prescribed drugs through pharmacogenomic testing

Another study from British Columbia, Canada published in CMAJ, looked to evaluate the effectiveness and cost-effectiveness of pharmacogenomic testing in depression patients, from the public payer’s perspective over 20 years. The model included unique patient characteristics (e.g., metabolizer phenotypes) and used estimates derived from systematic reviews, analyses of administrative data (2015–2020) and expert judgment.

Pharmacogenomic testing, if implemented in BC for adult patients with moderate–severe major depressive disorder, was predicted to save the health system $956 million ($4926 per patient) and bring health gains of 0.064 life-years and 0.381 QALYs per patient (12 436 life-years and 74 023 QALYs overall over 20 yr). These savings were mainly driven by slowing or avoiding the transition to refractory (treatment-resistant) depression. Pharmacogenomic-guided care was associated with 37% fewer patients with refractory depression over 20 years.

Sensitivity analyses estimated that costs of pharmacogenomic testing would be offset within about 2 years of implementation. Two Years, Folks! That's your Return on Investment!

Pharmacogenomic testing to guide antidepressant use was estimated to yield population health gains while substantially reducing health system costs.

Countries like the Netherlands and Singapore are already reaping the benefits of pharmacogenomics. The Dutch Pharmacogenetics Working Group (DPWG) has integrated genetic testing into national healthcare guidelines for over 80 drugs, leading to improved patient outcomes and reduced costs. The DPWG's guidelines help drug prescribers and pharmacists by Integrating recommendations into computerized systems for drug prescription, and Automating medication surveillance.

In Singapore, pharmacogenomic testing for drugs like carbamazepine—used to treat epilepsy—is becoming standard practice, dramatically reducing cases of life-threatening skin reactions in genetically predisposed individuals. In a study conducted in 2018 at the Singapore General Hospital, it was noted that the total cost of 81 admissions caused by adverse drug reactions (ADRs) was S$770,000. It was noted that the breakeven cost of a pre-emptive PGx test for patients taking warfarin, clopidogrel, chemotherapeutic and neuropsychiatric drugs was S$154 per patient.?As Prof Wee says, "It just needs to put these numbers side by side, and it becomes immediately clear that pre-emptive PGx testing is not only cheaper to the patient, but likely also the healthcare system.”

The Ethical Imperative

With such compelling evidence, the question arises: Why hasn’t pharmacogenomics become the norm? The answer lies in a combination of inertia, cost concerns, and a lack of awareness among both healthcare providers and patients.

Critics often point to the upfront costs of genetic testing as a barrier. While it is true that pharmacogenomic testing can cost hundreds of dollars per patient, this investment pales in comparison to the costs associated with ADRs, hospital readmissions, and ineffective treatments. Moreover, the price of genetic testing has plummeted in recent years, making it more accessible than ever.

Others argue that the complexity of integrating genetic data into clinical workflows is a hurdle. However, advancements in electronic health record systems and decision-support tools are making it easier for clinicians to incorporate pharmacogenomic insights into their practice.

The ethical argument for pharmacogenomics is unassailable.

Continuing to prescribe medications without considering genetic variability, when the tools to do so are readily available, is tantamount to negligence.

How many more patients must suffer or die before the medical community fully embraces this technology? We should be asking this question.

To accelerate the adoption of pharmacogenomics, a concerted effort is needed from all stakeholders in the healthcare ecosystem.

1. Government and Policy Makers: Governments must prioritize funding for pharmacogenomic research and testing programs. Policymakers should establish national guidelines for the use of pharmacogenomics in clinical practice, similar to those implemented in the Netherlands.
2. Healthcare Providers: Physicians and pharmacists need comprehensive training on pharmacogenomics. Medical schools and continuing education programs should integrate this discipline into their curricula.
3. Patients: Public awareness campaigns can empower patients to advocate for pharmacogenomic testing. Individuals should be encouraged to discuss genetic testing options with their healthcare providers, particularly when starting new medications.
4. Insurance Companies: Payers must recognize the long-term cost savings of pharmacogenomics and expand coverage for genetic testing. By doing so, they can reduce expenses associated with ADRs and ineffective treatments.
5. Technology and Innovation: Tech companies such as BioAro Inc. and Biongevity have a role to play in developing user-friendly tools that integrate pharmacogenomic data into clinical decision-making processes.

The Future is Now

The era of personalized medicine is no longer a distant dream; it is a present-day reality. Pharmacogenomics represents a paradigm shift in healthcare, one that prioritizes precision, safety, and efficacy. The time for excuses is over. As the global burden of ADRs continues to rise, so too does the moral imperative to act.

The question is not whether we can afford to adopt pharmacogenomics, but whether we can afford not to. For the millions of patients who stand to benefit, the answer is clear. It is time to abandon outdated practices and embrace the future of medicine. The stakes are too high to do otherwise.

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