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Why 0.1 % matters: Linking Genes to Drug Response trough Pharmacogenomics

Two scientists at FARMOVS, a clinical research organisation located at the University of the Free State (UFS), is actively investigating pharmacogenomics and how it will impact the future of medicine.  Chief Scientific Officer at FARMOVS, Chris Sutherland, advises international pharmaceutical companies and researchers on aspects of pharmacogenomics and how it could impact their research projects. In addition, Jaco Wentzel, Associate Study Manager at the FARMOVS Bioanalytical Division, is examining pharmacogenomics from a bioanalytical perspective.

The discovery of the structure and function of DNA in the 1950s heralded a new era of research, which culminated in one of humankind’s greatest scientific achievements, namely the completion of the Human Genome Project in 2003. Knowledge of the human genome not only revolutionized our understanding of genetics, but drove technological development, opened new diagnostic avenues and transformed medical science.


Does a 0.1% difference really matter?

The human genome consists of nearly 3 billion bases (the letters that make up our DNA) and these DNA sequences are more than 99.9% identical among all people. The 0.1% genomic differences come from variations in our DNA and sometimes these variations can impact our chances of developing disease as well as determining how effective certain medication will be in treating diseases. Genomic studies can provide insight into medically relevant DNA sequences and assist with the development of new medications more focused on personalised healthcare. This approach is referred to as ‘Precision Medicine’ and have been applied in several healthcare areas, including cancer screening and treatment, rare disease diagnosis and treatment in addition to pharmacogenomics.

What is pharmacogenomics?

It is an evaluation of how DNA differences in specific genes result in different responses to drugs. It is fascinating how genetic variation can have a significant impact on drug efficacy, as certain genetic variations can affect the way a person metabolizes as well as responds to drugs. Some genetic variations can impact the activity of enzymes involved in drug metabolism, leading to either a faster or slower removal of the drug from the body. Other genetic variations can impact the expression of drug targets, affecting the ability of the drug to bind and exert its therapeutic effect. For example, certain genetic variations can influence the efficacy of warfarin, a commonly used anticoagulant. Patients with certain genetic variations may metabolize warfarin differently, leading to either a lower or higher response to the drug. By considering a patient’s genetic profile, healthcare providers can adjust the warfarin dose to ensure the most effective treatment.


The application of pharmacogenomics in precision medicine can have several advantages, including:

  1. Improved efficacy: By considering the genetic information of the individual patient, pharmacogenomics can help healthcare providers select the most effective drugs and dosages, resulting in improved treatment outcomes.
  2. Reduced adverse drug reactions: By identifying persons who are at a higher risk of experiencing adverse drug reactions, pharmacogenomics can help reduce the likelihood of these reactions occurring.
  3. Personalized treatment: By personalizing drug therapy to an individual’s unique genetic profile, pharmacogenomics enables healthcare providers to offer a more tailored treatment that is optimized for each patient.
  4. A better understanding of a disease: By examining the genetic basis of drug response, pharmacogenomics can deepen our understanding of a diseases and help identify new targets for treatment.
  5. Improved health outcomes: By providing more effective and tailored treatment, pharmacogenomics has the potential to improve health outcomes and quality of life for patients.

As the pharmaceutical industry is moving away from the ‘one treatment fits all’ paradigm, great strides have been made in rationally-targeted treatments for specific patient populations. The application of pharmacogenomics in precision medicine has the potential to revolutionize the way we approach healthcare, leading to improved patient outcomes and reduced healthcare costs. However, to ensure treatment efficacy across diverse genetic groups, the identification of novel pharmacogenetic variants by means of sequencing analysis, should be prioritised.