Health + Tech | Genomics and personalised medicine

In the rapidly evolving landscape of healthcare, ground-breaking advancements in genomics and personalised medicine are reshaping traditional treatment approaches. This transformative shift is evident in various domains, including gene therapies, pharmacogenomics, and targeted cancer therapies. As scientists unlock the intricacies of the human genome, a new era in medicine is dawning, promising tailored treatments that are not only more effective but also less prone to adverse effects. Genomics is set to have a profound impact on personalised medicine, with revolutionary implications for the future of healthcare.

Genomics is the study of an organism’s complete set of deoxyribonucleic acid, more commonly known as DNA, or genome. Significant strides have been made in this area since the completion of the Human Genome Project in 2003. Under the project, scientists were able to decipher the human genetic code, consisting of approximately 20,000 to 25,000 genes. Researchers can now analyse an individual’s entire genome with unprecedented speed and accuracy.

One of the most promising applications of genomics is in the field of gene therapy. This involves the introduction, removal, or alteration of genetic material within an individual’s cells to treat or prevent disease. This approach holds immense potential for treating genetic disorders caused by mutations in a single gene. For example, in recent years, gene therapies have shown remarkable success in treating certain types of inherited blindness. Luxturna, a US Food and Drug Administration (FDA) approved gene therapy, targets a specific genetic mutation leading to retinal dystrophy, restoring vision in patients previously facing progressive blindness.

The integration of genomics into personalised medicine represents a paradigm shift in healthcare, offering unprecedented opportunities to tailor treatments to individual patients. In addition, when gene sequencing is done and included in the electronic medical record (EMR), it can positively impact generational treatment guidelines. If doctors can identify early that someone may be genetically predisposed to certain illnesses, there can be early preventive care that can minimise or prevent development and ultimately save lives and improve quality of life.

Personalised medicine extends beyond gene therapy to pharmacogenomics.

“Pharmacogenomics is a field of research that studies how a person’s genes affect how he or she responds to medications. Its long-term goal is to help doctors select the drugs and doses best suited for each person.” – www.nigms.nih.gov.

By analysing genetic variations, healthcare providers can tailor drug prescriptions to maximise efficacy and minimise adverse reactions. For instance, certain genetic markers can determine how individuals metabolise specific medications. This information is invaluable in optimising drug dosage and selection, reducing the risk of side effects. Pharmacogenomic testing is increasingly being integrated into clinical practice to guide treatment decisions in areas such as psychiatry, cardiology, and oncology.

The implementation of pharmacogenomics is particularly evident in psychiatric care, where genetic testing helps identify the most suitable antidepressants or antipsychotics for individual patients. This targeted approach enhances treatment outcomes while minimising the trial-and-error process often associated with medication management.

A study titled Psychiatric Pharmacogenomic Testing in Clinical Practice (2010), by David A. Mrazek, MD, purports that “every medical specialty can utilise the results of pharmacogenomic probe studies to inform the adoption of individualised pharmacotherapy. However, psychiatric pharmacotherapy is particularly likely to benefit from the introduction of pharmacogenomic testing, because there are many psychotropic agents available for selection that target specific symptoms.”

Perhaps one of the most compelling applications of genomics in personalised medicine is the development of targeted cancer therapies. Traditional cancer treatments, such as chemotherapy and radiation, can be effective but often come with significant side effects because of their non-specific nature. Targeted therapies, on the other hand, hone in on specific molecular features of cancer cells, minimising damage to healthy tissues.

Genomic profiling of tumours will become a standard practice in oncology, allowing clinicians to identify specific genetic alterations that drive cancer growth. This information is crucial for selecting targeted therapies designed to disrupt the signalling pathways involved in tumour progression.

As research continues and technology advances, the transformative power of genomics and personalised medicine will likely extend beyond current applications, touching every aspect of healthcare and fundamentally changing the way we approach and deliver medical care.

Doug Halsall is the chairman and CEO of Advanced Integrated Systems. Email feedback to doug.halsall@gmail.com and editorial@gleanerjm.com.