Precision medicine: Shaping the future of healthcare

An interview with Dr. Dragan Primorac

Dr. Dragan Primorac (pictured), a global leader in personalized medicine and founder of several pioneering initiatives in genomics and regenerative medicine, joins us for an in-depth discussion on how precision medicine is transforming the future of healthcare. From genomic breakthroughs to AI innovations and cutting-edge cancer therapies, Dr. Primorac offers insight into how healthcare is becoming increasingly individualized—and what that means for patients and providers around the world.

Q: Dr. Primorac, can you start by explaining what personalized or precision medicine is and why it’s considered revolutionary?
A: Personalized medicine, also known as precision medicine, is revolutionizing healthcare by tailoring medical treatment to the unique characteristics of each individual. This approach integrates genetic, environmental, and lifestyle factors to enhance disease prevention, diagnosis, and treatment. While the potential benefits are profound, the implementation of personalized medicine also presents significant ethical, economic, and logistical challenges that must be addressed to ensure equitable and effective care for all.

Q: What role does genomics play in this transformation?
A: At the heart of personalized medicine lies genomics. As the cost of the whole genome sequencing continues to decline, integrating genetic testing into routine clinical practice is becoming increasingly feasible. Advances in genomics, bioinformatics, artificial intelligence (AI), and data analytics now allow us to identify genetic variations that influence disease susceptibility and drug response. On the other hand, multi-omics (epigenomics, transcriptomics, proteomics, glycomics, metabolomics, etc.) plays a crucial and expanding role in personalized medicine—going even beyond genomics to provide a more holistic and precise understanding of individual health.

Q: One exciting area you’ve written about is pharmacogenomics. Your recent book, Pharmacogenomics in Clinical Practice, published by Springer Nature, is widely regarded as one of the most comprehensive and impactful works in the field. Can you describe how it works?
A: One of the most transformative applications is pharmacogenomics (PGx)—the study of how genes affect an individual’s response to medications. By understanding genetic differences that influence drug metabolism, transport, binding receptors, efficacy, and toxicity, clinicians can tailor treatments to individual patients, reducing trial-and-error prescribing and minimizing adverse drug reactions. This approach is particularly impactful in oncology, psychiatry, and cardiology, where drug responses vary widely.

Q: What kind of real-world impact can pharmacogenomics have?
A: A 2018 U.S. study estimated that preventable adverse drug reactions (ADRs) and events (ADEs) due to inappropriate medication alert overrides cost the healthcare system between $871 million and $1.8 billion annually. Our recently published book, Pharmacogenetics in Clinical Practice (Springer Nature), addresses all critical aspects of pharmacogenomics (PGx) and is designed to support clinicians, researchers, and students in applying these insights in everyday medical practice.

Q: Can you give specific examples of how genetic testing can guide treatment?
A: For instance, genetic testing for liver enzymes such as CYP2D6 and CYP2C19 can identify patients who may not respond to common antidepressants. Given that approximately 60% of the 700,000 people who die by suicide each year have a mood disorder such as depression or bipolar disorder, this underscores the critical importance of pharmacogenomic (PGx) testing in improving mental health treatment and outcomes. Furthermore, pharmacogenomics is pivotal in optimizing Clopidogrel therapy—an antiplatelet medication—by analyzing variations in the CYP2C19 gene. Individuals with certain genetic variants are classified as intermediate or poor metabolizers, meaning they convert less of the prodrug into its active form. This reduced activation significantly increases the risk of adverse cardiovascular events, such as stroke or heart attack, underscoring the life-saving potential of personalized treatment strategies.

Q: What are some of the current challenges in implementing pharmacogenomics in clinical settings?
A: Despite its promise, the integration of pharmacogenomics into clinical practice faces hurdles, including high testing costs, limited clinician training, and concerns about genetic data privacy. Nonetheless, the potential of pharmacogenomics to enhance drug safety and efficacy is undeniable.

Q: How is artificial intelligence contributing to the field of precision medicine?
A: AI is rapidly transforming personalized medicine by enabling the analysis of complex datasets—including genomic, lifestyle, and clinical information—to predict disease risks and guide treatment. AI tools are now used to forecast conditions such as diabetes, Alzheimer’s disease, and cardiovascular disease, allowing for earlier and more precise interventions. By leveraging data from electronic health records, genetic profiles, and wearable devices, AI enhances diagnostic accuracy and enables highly customized treatment plans.

Q: In a recently published study, you and your colleagues developed and validated an integrative AI tool called OncoOrigin for predicting the primary cancer site in patients with cancer of unknown primary origin (CUP). This represents a novel application of machine learning in oncology. Can you explain how this approach works and what makes it groundbreaking?

A. In this in silico study, my team from St. Catherine Hospital and the scientists from U.S. Dartmouth Health analysed over 20,000 metastatic tumor samples and mutations in more than 600 different genes and the results are based on computational simulations. Finally, the optimal model was integrated with a graphical user interface in the OncoOrigin software. Among the four machine learning models tested, XGBoostClassifier demonstrated the best performance, achieving a ROC-AUC value of 0.97 (Receiver Operating Characteristic – Area Under the Curve), where the maximum possible value is 1. A value of 1 represents a perfect model that correctly classifies every tumor type without error, while a value of 0.5 indicates a model no better than random guessing. The closer the ROC-AUC value is to 1, the more accurately the model identifies the correct primary tumor site.

Q: Are there any concerns related to AI in healthcare?
A: Challenges remain, including concerns about data privacy, algorithmic bias, and the interpretability of AI-driven decisions. At the conference we are organizing in June 2026 in Dubrovnik—jointly hosted by St. Catherine Specialty Hospital, Mayo Clinic, the International Society for Applied Biological Sciences (ISABS), and the International Center for Applied Biological Research (ICABS)—we will address all key questions related to the application of artificial intelligence in clinical practice. More than 500 physicians and scientists from around the world—including several Nobel laureates—will participate in this landmark event to discuss the future of artificial intelligence in medicine.

Q: How are Polygenic Risk Scores (PRS) being used in clinical practice?
A: In the era of information technology, clinicians and scientists have developed an additional key tool in precision medicine—Polygenic Risk Scores (PRS). These scores aggregate data from multiple genetic variants to estimate an individual’s risk for complex diseases such as coronary artery disease or breast cancer. Increasingly, PRS are being used to guide screening and preventive strategies, enabling a more proactive and personalized approach to healthcare.

Q: Can you tell us more about nutrigenomics and its potential?
A: Nutrigenomics explores how genes interact with nutrients, offering a new frontier in personalized health. By analyzing an individual’s genetic profile, nutrigenomics enables the creation of tailored nutrition plans that optimize health, prevent disease, and enhance well-being. For example, some individuals may have genetic variants that affect fat metabolism, vitamin absorption, or caffeine sensitivity. Personalized dietary recommendations based on this information can help reduce the risk of chronic conditions such as obesity, diabetes, and cardiovascular disease. While still an emerging field, nutrigenomics holds great promise for the future of preventive medicine.

Q: How is personalized medicine transforming cancer care specifically?
A: Cancer treatment has entered a new era, driven by the power of personalized medicine. Unlike traditional approaches that apply the same treatment to all patients with a particular cancer type, personalized oncology customizes therapies based on an individual’s genetic makeup, tumor biology, and molecular markers. Personalized medicine is not just changing how we treat cancer—it’s transforming how we understand it. By aligning treatment with the unique biology of each patient, we move closer to a future where cancer care is more precise, more effective, and more humane.

Q: Can you share examples of how targeted therapies work in cancer treatment?
A: For instance, in non-small cell lung cancer (NSCLC)—which accounts for approximately 85% of all lung cancers—patients with mutations in the epidermal growth factor receptor (EGFR) gene can benefit from targeted therapies such as osimertinib (Tagrisso). This drug specifically targets EGFR mutations, effectively suppressing tumor cell proliferation and survival, and offering a more effective and less toxic alternative to conventional chemotherapy. Another example of targeted therapy is the treatment of metastatic colorectal cancer with a BRAF V600E mutation. This mutation causes the BRAF protein—normally involved in regulating cell growth—to become permanently active, leading to uncontrolled tumor proliferation. Encorafenib (Braftovi®), a BRAF inhibitor, blocks this mutated protein and halts the overactive signaling. When combined with Cetuximab (Erbitux®), a monoclonal antibody that targets EGFR, the treatment becomes significantly more effective by simultaneously inhibiting two key pathways involved in tumor growth.

Q: What challenges do we still face in personalized cancer treatment?
A: The complexity of cancer remains a formidable challenge. Tumors are highly heterogeneous and can evolve over time, often developing resistance to initially effective therapies. This dynamic nature demands continuous monitoring, adaptive treatment plans, and a strong commitment to ongoing research and innovation.

Q: What is patient-derived therapy and how does it fit into precision medicine?
A: Mesenchymal stem cell (MSC) and microfragmented fat tissue (MFAT) therapies are also considered forms of personalized medicine—particularly when they utilize the patient’s own biological material. Mesenchymal stem cells (MSCs) have demonstrated notable clinical efficiency in a wide range of regenerative medicine applications, supported by both preclinical and clinical studies.

 On the other hand, MFAT therapy involves harvesting a patient’s adipose (fat) tissue through a minimally invasive procedure. This tissue is then processed and re-injected into targeted areas of injury or degeneration—such as joints, tendons, or ligaments—based on the patient’s specific clinical condition. MFAT is rich in adipose-derived stem cells, growth factors, and anti-inflammatory agents, all of which support tissue repair and regeneration in a way that aligns with the patient’s unique biology.

Q: Looking ahead, what do you see as the future of personalized medicine?
A: Despite the challenges, the potential of personalized medicine to revolutionize healthcare is undeniable. It offers a future where treatments are more effective, side effects are minimized, and diseases are detected before they become life-threatening. Realizing this vision requires investment in research, education, and infrastructure, as well as a commitment to addressing the ethical and social implications of this evolving field. With thoughtful planning, inclusive policies, and ethical practice, personalized medicine can become a cornerstone of 21st-century healthcare, delivering on the promise of truly individualized care.

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