NeAr Science Magazine

By Andriana Had

Imagine a world where your first prescription works exactly as intended. No trial and error, no
uncertainty, no unnecessary expense. This may sound impossible, but pharmacogenomics and personalized medicine are building towards a future where this becomes a reality.

Everyone’s genome, defined as the entire set of DNA instructions found in our cells containing all the
information needed for an individual to develop and function, is different. This means that each person’s response to a drug, medication or cure, also differs. Pharmacogenomics is a research field studying how a person’s genes affect their response to a particular medication or drug. It determines a drug’s effectiveness and safety of consumption – considering varying side effects from person to person. Pharmacogenomics combines pharmacology, the science of drugs, and genomics, the study of genes and their functions, to develop effective and safe medications that can be prescribed based on a person’s genetic makeup.

We see a compelling demonstration of where pharmacogenomics can be used, in cancer treatment.
Putting things into perspective, cancer is one of the most widespread diseases, with millions of diagnoses every year. In 2022, there were an estimated 20 million new cancer cases and 9.7 million deaths. 1 in 5 people develop cancer in their lifetime; approximately 1 in 9 men and 1 in 12 women will die from it. However, a universally effective and well-tolerated treatment remains elusive.

Some examples of traditional and commonly used cancer treatments include chemotherapy, surgery, radiation and hormone therapies (National Cancer Institute, 2025). Personalized treatments are an
improvement to these traditional treatments, with many benefits such as enhanced efficacy and
treatment response. They also have the potential to selectively target cancer cells over healthy cells,
therefore improving prognosis and decreasing the toxicity of anticancer drugs on healthy cells.

Traditionally, every cancer patient would receive the same treatment – regardless of genetic factors –
with mixed results. The long-term goal of pharmacogenomics is to help doctors select drugs and dosage specifically suited for the individual, as genetics, and the complexities of each cancer diagnosis varies between patients.

Whilst such a recent development in medicine in the field of precision, benefits are beginning to be
observed. We currently see its application in identifying which patients are more likely to respond to
specific chemotherapies. For instance, patients with a specific breast cancer gene (HER2-positive) benefit from drugs such as trastuzumab, while patients with certain mutations in the EGFR gene may respond better to targeted therapies for lung cancer. Personalized medicine based on pharmacogenomic biomarkers allows treatment decisions to be made based on genetic profiles and genotypes of tumors.

Cancer cells have altered DNA base sequences, leading to mutations. This causes some cells to behave differently from normal cells, not carrying out their function efficiently. Personalized treatment works by tailoring treatment plans according to the individual unique genetic makeup of cancer. Specific genetic markers are targeted for effective therapy and adaptations are made based on disease progression or in case of relapse.

Personalized treatment is still a relatively new field in medicine, which unfortunately, is not widely
available. Further research needs to be carried out to learn more about gene changes happening in
cancer cells and in different types of cancer, aiming to increase the effectiveness of these new
approaches to treatment.

Claims have surfaced suggesting that the expense of pharmacogenomic testing makes it impractical, as cost is an important consideration to healthcare systems and is often ranked as a major barrier to
implementation. However, studies show that pharmacogenomic testing is a cost-effective approach in the long run. Often, the initial cost of pharmacogenomic testing is lower than the costs that would be incurred maintaining a patient on an ineffective drug or managing life-long complications.

Personalized treatment with the help of pharmacogenomic testing has incredible potential, providing
treatment and hope to millions. With further research and clinical trials, this approach would be
expanded to include several forms of cancer and patient profiles, while maintaining a cost-effective
approach.

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References:

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CDC. (2024, November 13). Pharmacogenomics. Genomics and Your Health. https://www.cdc.gov/genomics-and-health/pharmacogenomics/index.html
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