Precision medicine: reality, advances and future 

Dr. Fausto Zaruma – Dean of the Faculty of Chemical Sciences   

University of Cuenca 

Precision medicine (PM) is an innovative medical approach that uses information about a person's genomic, environmental, and lifestyle (epigenetic) characteristics to guide decision-making related to their healthcare. In this way, it provides a more precise intervention scenario in the prevention, diagnosis and treatment of pathologies. Consequently, it allows dosing regimens to be personalized to obtain optimal effectiveness and safety, considerably reducing side effects. In addition, it helps to make a better prognosis of potential diseases, providing early and timely intervention. On the other hand, and no less important, it favors the achievement of a model for optimizing human and material resources.1

PM is often confused with personalized medicine; The first bases its pragmatism on genetic, clinical and molecular data, which allow the study of monogenic diseases, such as cancer, diabetes, asthma, epilepsy, etc. Meanwhile, personalized medicine directs its action to the individualized care of each patient where the patient's own results from their biomolecular tests (biomarkers), pharmacogenetics, and therapeutics are incorporated in line with the evidence of recent discoveries in clinical research studies.2

Since MP is a new and revolutionary medical paradigm, it is essential to highlight that it establishes a multidisciplinary correlation to benefit a patient with catastrophic, orphan and chronic pathologies, which are based on a therapeutic scheme that is difficult to manage. In this research we will observe several of the foundations that will indicate the current reality, the advances and the future of PM. 

Current reality of MP  

In recent years, MP has shown great development as described above 3 . There are several critical points that oppose this reality and are shown as challenges: The involvement of the medical staff, to know, train and apply genomics, as part of medical practice; the high costs of genetic diagnostic tests; access to massive databases, high-power computing equipment; the lack of qualified personnel as experts in the knowledge and interpretation of results and personalized therapy; In addition, the lack of laboratories with highly complex specialized infrastructure and the ethical and legal impact that could be transgressed due to carelessness in the privacy and confidentiality of genetic data 4 .

On the other hand, it is worth mentioning that the inter- and intra-individual variability of patients is an additional challenge, which directly affects the pharmacokinetics and pharmacodynamics of the pharmacological treatment.  

Advances of the MP 

The advances that resulted from the complete and comprehensive sequencing of the human genome have made it possible to identify, discover and predict the response to the treatments offered to patients. Thus, in the field of oncology, they have allowed the development of medications based on the genetic and molecular behavior of tumors, such as PARP inhibitors for ovarian cancer with BRCA deficiency (Figure 1). Other treatments have been focused on controlling the degenerative development of autoimmune diseases such as rheumatoid arthritis, psoriasis, Crohn's disease, multiple sclerosis, as well as for comprehensive control of diabetes mellitus and metabolic syndrome, for epilepsy and also for genetic pathologies such as Huntington's syndromes. , Tourette's, among others5

In recent years, advances in this dynamic have already shown signs of an anomalous genetic-based contribution, which would explain the progressive deterioration of the nervous system in neuropsychiatric diseases such as Alzheimer's.6

Future of precision medicine 

In the future, MP promises more efficient and effective healthcare. The integration of genomic, clinical, imaging and portable device data will allow continuous monitoring of health and early detection of diseases, added to the versatility of interpretation of the genotype-phenotype relationship as a good prognostic element of the potential response to the drug-active molecules as well as the identification of mutations that lead to a different behavior in the physiology and structure of the cells and organs involved in a disease7.  

On the other hand, in the near future, artificial intelligence and machine learning will continue to gain ground and will play a leading and crucial role in the analysis of this massive data to identify patterns and predict health outcomes through data science, machine learning. learnign, competency-based learning, etc. Furthermore, MP will promote the development of new drugs and the rational application of existing medications for specific diseases, where an intense contrast is clearly detected between traditional methods versus the tools used by MP 8 (Figure 2).

Conclusion 

MP is about personalized medicine, since in its protocols it lays the foundations for therapeutic strategies that can improve and surpass traditional ones with a view to individualized prophylaxis and optimal, permanent and timely monitoring of their pathology. 

It is necessary to carry out a communication campaign at all levels, from authorities, doctors, health professionals, caregivers and patients that calls for reflection, debate and promotes the application of the therapeutic model based on MP in the individual care of the patient. 

Bibliography: 

  1. Marcon, A.R., Bieber, M., & Caulfield, T. (2018). Representing a “revolution”: how the popular press has portrayed personalized medicine. Genetics in Medicine: Official Journal of the American College of Medical Genetics , 20 (9), 950–956.
  1. Budin-Ljøsne, I., & Harris, JR (2015). Ask not what personalized medicine can do for you–ask what you can do for personalized medicine. Public Health Genomics , 18 (3), 131–138.
  1. Atutornu, J., & Hayre, CM (2018). Personalized Medicine and Medical Imaging: Opportunities and Challenges for Contemporary Health Care. Journal of Medical Imaging and Radiation Sciences , 49 (4), 352–359.
  1. Ramaswami, R., Bayer, R., & Galea, S. (2018). Precision Medicine from a Public Health Perspective. Annual Review of Public Health , 39 , 153–168.
  1. Sisodiya, S. M. (2021). Precision medicine and therapies of the future. Epilepsy , 62 Suppl 2 (Suppl 2), S90–S105.
  1. Siafarikas, N. (2024). Personalized medicine in old age psychiatry and Alzheimer's disease. Frontiers in Psychiatry/Frontiers Research Foundation , 15 , 1297798.
  1. Goetz, L.H., & Schork, N.J. (2018). Personalized medicine: motivation, challenges, and progress. Fertility and Sterility , 109 (6), 952–963.
  1. Dev, A., Khanra, S., & Shah, N. (2020). Advanced technologies in the modern era for augmented patient health care and drug delivery. Journal of Drug Delivery and Therapeutics , 10 (1), 147–152.
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