Precision and Personalized Medicine: How Genomic Approach Improves the Management of Cardiovascular and Neurodegenerative Disease

Abstract

Life expectancy has gradually grown over the last century. This has deeply affected healthcare costs, since the growth of an aging population is correlated to the increasing burden of chronic diseases. This represents the interesting challenge of how to manage patients with chronic diseases in order to improve health care budgets. Effective primary prevention could represent a promising route. To this end, precision, together with personalized medicine, are useful instruments in order to investigate pathological processes before the appearance of clinical symptoms and to guide physicians to choose a targeted therapy to manage the patient. Cardiovascular and neurodegenerative diseases represent suitable models for taking full advantage of precision medicine technologies applied to all stages of disease development. The availability of high technology incorporating artificial intelligence and advancement progress made in the field of biomedical research have been substantial to understand how genes, epigenetic modifications, aging, nutrition, drugs, microbiome and other environmental factors can impact health and chronic disorders. The aim of the present review is to address how precision and personalized medicine can bring greater clarity to the clinical and biological complexity of these types of disorders associated with high mortality, involving tremendous health care costs, by describing in detail the methods that can be applied. This might offer precious tools for preventive strategies and possible clues on the evolution of the disease and could help in predicting morbidity, mortality and detecting chronic disease indicators much earlier in the disease course. This, of course, will have a major effect on both improving the quality of care and quality of life of the patients and reducing time efforts and healthcare costs.

Keywords: clinical application; genomics; personalized medicine; precision medicine.

Figure 1

An ambitious challenge for medicine is to guarantee targeted care paths, beginning with more personalized approaches. To achieve this goal, it is necessary to have a multi-level approach towards patients. At molecular level the multi omics approach (transcriptomic, metabolomics, genomic, proteomics, epigonomics) provides a deeper understanding of patient conditions from the original causes of diseases to the functional consequences. This information should be integrated with the study of the “exposome”, defined as the totality of exposure experienced by an individual during their life and the health impact of those exposures (Wild CP. Complementing the genome with an “exposome”: The outstanding challenge of environmental exposure measurement in molecular epidemiology. Cancer Epidemiol Biomarkers Prev. 2005; 14(8):1847–1850). Together with the study of clinical features of patients, physicians are able to elaborate a personalized therapy, tailored to the individual patient.

Figure 2

Standard approach assumes that all patients with the same symptoms of disease share a common patho-phenotype and, therefore, should be treated similarly. To reach the goal, that is, the recovery of patients, physicians have at their disposal different therapies (here indicated as A, B, C, D) that they have to “test” on patients until they find the right one. Conversely, personalized medicine aims to improve the ability to select the right therapy at the right time for an individual patient.

Figure 3

As noted by President Obama in “Precision Medicine Initiative”, the use of individual genome characteristics is essential to choose the best and adequate treatments for patients. Modified from: Doctor with Patient Cartoon.svg and Doctor with Patient X-ray Cartoon.svg from Wikimedia Commons by Videoplasty.com, CC-BY-SA 4′′.