Genes are like the instruction manual for our bodies, and understanding them has completely transformed healthcare. This journey began with scientists discovering DNA as the carrier of our genetic traits in 1944. You could say the real breakthrough came in 1953 when we unveiled the famous double helix structure of DNA. It’s like landing on the moon for biology! Then, in 2003, we cracked the code of the human genome, which is like the blueprint for life. This was a game-changer for healthcare.

As technology improved, the cost of reading our DNA dropped dramatically. It used to be incredibly expensive, but now it’s getting cheaper, and in the future, your complete DNA sequence might be part of your medical records. But this exciting progress also brings up important questions about the ethical and legal use of genetic information.

The Genomic Web: More than Just Human Genomes

While human genomics often steal the limelight, it is crucial to recognize that the genomes of various species serve as the foundation for understanding the complex facets of life. These genomes have ushered in the age of comparative genomics, a field brimming with potential for reshaping healthcare.

Flow chart of some applications of comparative genomics. The phylogenetic tree in the phylogenomic box was reprinted by permission from Macmillan Publishers Ltd.: Delsuc F, Brinkmann H, and Philippe H (2005) Phylogenomics and the reconstruction of the tree of life. Nature Reviews Genetics 6(5): 361–375, copyright 2005. Retrieved from de Crécy-Lagard, V. & Hanson, A. (2013). Comparative Genomics. Brenner’s Encyclopedia of Genetics, 2nd ed: 102-105. doi: 10.1016/B978-0-12-374984-0.00299-0

By scrutinizing the genomes of pathogens that afflict human health, such as tuberculosis and malaria, through comparative genomics, we can gain valuable insights into the unique characteristics of these pathogens. This knowledge paves the way for the development of precisely targeted drugs and treatments, a critical stride towards better healthcare.

Genes as Clues: The Dawn of Biomarkers

The power of genomic medicine extends beyond gene sequencing. Biomarkers, while not a new concept, are undergoing a transformative shift from the traditional phenotype-based diagnosis towards a genotype-centered approach. These markers are becoming progressively associated with specific disease states.

Body fluids that are used in the process of biomarker exploration, as well as the many types of biomarkers that may be obtained from these body fluids.. Retrieved from Shama, A., Soni, T., Jawanda, I., Upadhyay, G., Sharma, A. & Prabha, V. (2023). The Latest Developments in Using Proteomic Biomarkers from Urine and Serum for Non-Invasive Disease Diagnosis and Prognosis. Biomarker Insights. 2023;18. doi:10.1177/11772719231190218

While there is an ever-growing list of gene-disease associations, the journey from identification to practical, cost-effective diagnostic tools is still in its early stages. Gene Tests keeps a constant record of the genetic tests that are currently available, providing a glimpse of the diagnostic landscape that is evolving.

Special considerations of genetic testing. Retrieved from Pagon, R., Hanson, N., Neufeld-Kaiser, W. & Covington, M. (2001). Genetic testing. Western Journal of Medicine 174(5): 344-347; doi: 10.1136/ewjm.174.5.344

A New Age of Delivery: Controlled and Monitored

In the realm of healthcare delivery, Genomic Medicine has spurred innovation in drug and healthcare delivery. Drug effectiveness is no longer solely about receptor binding; it now involves meticulous consideration of absorption, distribution, metabolism, and excretion (ADME). Nanosized devices equipped with controlled-release mechanisms are emerging as delivery tools with the potential to enhance the precision of treatment.

General design considerations of Controlled Release Drug Delivery Systems (CRDDS). Retrieved from Adepu, S. & Ramakrishna, S. (2021). Controlled Drug Delivery Systems: Current Status and Future Directions. Molecules. 2021 Sep 29;26(19):5905. doi: 10.3390/molecules26195905. PMID: 34641447; PMCID: PMC8512302.

On the other end of the spectrum are macrodevices, such as advanced monitoring devices that promise to revolutionize healthcare. These devices, capable of real-time tracking of vital signs, blood sugar levels, and more, are set to become integral to personalized healthcare, offering pharmacists a wealth of new data to navigate.

Classification of health-monitoring sensors. Retrieved from Singh, P. (2018). Internet of things based health monitoring system: opportunities and challenges. International Journal of Advanced Research in Computer Science, 9(1), 224-228. doi: 10.26483/ijarcs.v9i1.5308

Redefining Drug Discovery: A Complex Mosaic

The traditional paradigm of drug discovery, involving a single drug targeting a single receptor for a single disease, is evolving as we uncover the intricate complexities of living systems. The interconnectedness of the living system with the environment has revealed the therapeutic potential of natural products, which have proven to be successful drugs in various therapeutic areas.

Species of natural products with most abundant compounds against infectious pathogens, taken from the literature. Retrieved from Luo, L., Yang, J., Wang, C., Wu, J., Li, Y., Zhang, X., Li, H., Zhang, H., Zhou, Y., Lu, A. & Chen, S. (2021). Natural products for infectious microbes and diseases: an overview of sources, compounds, and chemical diversities. Science China: Life Sciences, 65(6): 1123-1145; doi: 10.1007/s11427-020-1959-5.

Advancements in metagenomics, which explores multispecies genomic sequencing from environmental samples, hold the promise of discovering new drugs. The identification of the “druggable” genome, encompassing potential drug ligands and receptors, raises questions about polypharmacology and the simultaneous binding of a drug to multiple receptors, offering both potential benefits and unforeseen side effects.

Overview of data resources useful in the assessment of targets. Retrieved from Radoux, C., Vianello, F., McGreig, J., Desai, N. & Bradley, A. (2022). The druggable genome: Twenty years later. Frontiers in Bioinformatics, 2022, 2. doi: 10.3389/fbinf.2022.958378

Medicine Made Just for You: The Era of Personalized Medicine

The concept of personalized medicine has been on the horizon for over a century, with early observations of genetic variations leading to different responses to medications. Pharmacogenomics, the study of genetic dispositions to pharmaceuticals, has emerged as a key pillar of personalized medicine, with databases like PharmGKB compiling a treasure trove of genetic information.

Summary of Content at PharmGKB. Retrieved from Gong, L., Whirl-Carrillo, M., & Klein, T. (2021). PharmGKB, an Integrated Resource of Pharmacogenomic Knowledge. Current Protocols, 2021 Aug, 1(8):e226; doi: 10.1002/cpz1.226. PMID: 34387941; PMCID: PMC8650697.

The pharmaceutical industry grapples with the challenge of balancing profitability with the demand for personalized drug treatments. However, as exemplified by warfarin dosing based on genetic factors, personalized drug treatment is no longer a distant dream but a tangible reality. It transcends the traditional standards of care, necessitating advanced information processing, highlighting the growing importance of pharmacy informatics in this transformative era.

Pharmacogenomics and drug discovery. Retrieved from Jhawat, V., Gulia, M., Gupta, S., Maddiboyina, B., & Dutt, R. (2020). Integration of pharmacogenomics and theranostics with nanotechnology as quality by design (QbD) approach for formulation development of novel dosage forms for effective drug therapy. Journal of Controlled Release, 327(10): 500-511; doi: 10.1016/j.jconrel.2020.08.039

Inevitably, genes are reshaping healthcare, making it more precise and personalized. As we enter this age of gene-driven medicine, Pharmacy Informatics, the science of managing and using healthcare data, is becoming a crucial part of ensuring you get the right treatment at the right time. This is a new era for patient care and medicines.

Engr. Dex Marco Tiu Guibelondo, B.Sc. Pharm, R.Ph., B.Sc. CpE

Editor-in-Chief, PharmaFEATURES

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