David Orchard-WebbJanuary 02, 2024
Tag: Personalized Medicine , Genetic , Genomic
Personalized medicine, also known as precision or individualized medicine, is a rapidly evolving field where medical decisions are tailored to individual patients based on their genetic and genomic data. This approach extends conventional medicine, which applies one strategy across all patients without tailoring to personal genetic and genomic information.
In the fast-paced world of healthcare, the revolutionary approach known as personalized medicine is ushering in a new era that promises to transform the way we prevent, diagnose, and treat diseases. This paradigm shift leverages the power of individualized genetic and genomic information to tailor medical interventions for each patient.
The concept of personalized medicine materialized in the 1990s, following advances in DNA sequencing technology. The Human Genome Project (HGP; 1990-2003) and the International HapMap Project (2002-10) were significant milestones that provided researchers with the information needed to associate gene variants with specific diseases and disorders. The completion of the Human Genome Project in 2003 was a pivotal moment, providing researchers with a comprehensive map of the human genome. This monumental achievement laid the foundation for the emergence of personalized medicine by unraveling the intricate genetic code that influences our susceptibility to diseases and response to treatments.
At its core, personalized medicine relies on the analysis of an individual's genetic makeup to inform medical decisions. Unlike traditional approaches that apply broad treatment strategies, personalized medicine takes into account the unique genetic variations present in each patient. This tailored approach allows healthcare professionals to predict how a person might respond to a specific treatment, offering the potential for more effective and targeted interventions.
Personalized medicine is used in various ways to facilitate the prevention, diagnosis, and treatment of disease. Here are some notable examples:
1. Tumor Marker Testing: This method is used to treat cancer by identifying specific mutations that drive certain cancers.
2. Genome Sequencing: The process of determining the entire genetic makeup of a specific organism or type of cell.
3. Pharmacogenomics: This field studies how individuals react differently to medicines. Scientists can now identify glitches in our DNA scripts that reveal what drugs may be dangerous, or completely ineffective, for certain people.
Personalized medicine is increasingly becoming a reality in medical practice. Here are some relevant examples:
1. Risk Assessment: Through network analysis, scientists pinpointed 10 seed genes, 22 associated genes, 132 microRNAs, and 38 transcription factors directly influencing all types of epilepsy and seizures. Upon functional analysis, the majority of seed genes were notably associated with the acetylcholine-gated channel complex (10%) and the heterotrimeric G-protein complex (10%) pathways concerning cellular components. Additionally, these genes play key roles in the regulation of action potential (20%) and positive regulation of vascular endothelial growth factor production (20%) within pathways related to biological processes in epilepsy and seizures. [Chouhan, 2024]
The study sheds light on the disease's inner workings, emphasizing the importance of ongoing research into epilepsy and related conditions triggering seizure activity. Understanding the specific pathways and components involved offers valuable insights, potentially guiding future interventions and deepening our comprehension of epilepsy's intricacies. Continued exploration in this field holds the promise of advancing therapeutic strategies and improving outcomes for those affected by epilepsy and seizures. [Chouhan, 2024]
2. Avoiding Adverse Reactions : Gefitinib stands out as a potent and selective oral inhibitor of the growth factor receptor (EGFR) tyrosine kinase. It is widely employed in the treatment of advanced non-small cell lung cancer among patients exhibiting activating EGFR mutations. [Zhu, 2023]
An 81-year-old woman diagnosed with lung adenocarcinoma and bone metastasis, along with an EGFR-activating mutation, received a prescription for daily gefitinib tablets at a dose of 250 mg for her lung adenocarcinoma. However, the patient encountered a challenge when she developed moderate to severe bilateral sensorineural deafness, particularly affecting her right ear, after initiating gefitinib treatment. Upon discontinuing gefitinib, there was a partial recovery of auditory function observed in the patient. Interestingly, when she resumed taking the medication, her deafness worsened once again. [Zhu, 2023]
This article is the first to report ototoxicity caused by gefitinib. It is possible that there is an underlying genetic predisposition that could be discovered and thus avoided in future patients taking gefitinib. [Zhu, 2023]
3. HIV Treatment: The drug Abacavir used by HIV patients induced a life-threatening allergic reaction. Hypersensitivity reactions were observed in about 3.7% of patients when initiating abacavir therapy as part of combination antiretroviral treatment. The reaction was likely influenced by a combination of altered drug metabolism and immune dysfunction, although the exact mechanisms are not well understood. Interestingly, it appears that white patients face a higher risk, while patients of African descent have a lower risk of abacavir hypersensitivity. [Hewitt, 2002]
In terms of clinical management, the approach involves supportive measures and discontinuation of abacavir therapy. It is crucial to avoid rechallenging hypersensitive patients with abacavir, as this could potentially trigger a life-threatening reaction. [Hewitt, 2002]
In conclusion, personalized medicine represents a paradigm shift in healthcare, moving away from "one-size-fits-all" medicine. As our understanding of genetics and genomics continues to grow, so too will the potential of personalized medicine to revolutionize healthcare.
While challenges persist, the relentless pursuit of innovation and collaboration within the healthcare community ensures that personalized medicine will continue to redefine the standards of care, bringing about a future where each patient's unique genetic code becomes a guiding beacon for their health and well-being. As the journey unfolds, personalized medicine stands poised to shape a healthcare landscape that is not just tailored to diseases but, more importantly, to the individuals grappling with them.
Chouhan, Usha, et al. "Emerging Trends in Big Data Analysis in Computational Biology and Bioinformatics in Health Informatics: A Case Study on Epilepsy and Seizures." Methods in Molecular Biology, vol. 2719, 2024, pp. 99-119. doi:10.1007/978-1-0716-3461-5_6.
Hewitt, Ross G. "Abacavir Hypersensitivity Reaction." Clinical Infectious Diseases, vol. 34, no. 8, 2002, pp. 1137-1142. doi:10.1086/339751. Epub 2002 Mar 19.
Zhu, Bao-Chen et al. "Sensorineural hearing loss induced by gefitinib: A CARE-compliant case report and literature reviews." Medicine (Baltimore), vol. 102, no. 45, 2023, e36010. doi:10.1097/MD.0000000000036010.
David Orchard-Webb, Ph.D., is a technical writer with broad interests including health & technology writing, plus extensive training and knowledge of biomedicine and microbiology. My Ph.D. and postdoc were in oncology and developing cancer medicines. I provide technical medical and other writing services for projects ranging from “knowledge automation” to pure pharma, to food safety, to the history of science, and everything in between. I also provide white papers, ebooks, meta-analysis reviews, editing, consulting, business, and market research-related activities in biomedicine, technology, and health. In addition to its well-known role in the development of medicines, I am a big believer in biotechnology’s ability to revolutionize industries such as food-tech, agtech, textiles & fashion.
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