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

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Precision and Personalized Medicine: How Genomic Approach Improves the Management of Cardiovascular and Neurodegenerative Disease G C A T T A C G G C A T genes Review Precision and Personalized Medicine: How Genomic Approach Improves the Management of Cardiovascular and Neurodegenerative Disease Oriana Strianese 1,2, Francesca Rizzo 2 , Michele Ciccarelli 3 , Gennaro Galasso 3, Ylenia D’Agostino 2, Annamaria Salvati 2 , Carmine Del Giudice 1, Paola Tesorio 4 and Maria Rosaria Rusciano 1,3,* 1 Clinical Research and Innovation, Clinica Montevergine S.p.A., 83013 Mercogliano, Italy; [email protected] (O.S.); [email protected] (C.D.G.) 2 Laboratory of Molecular Medicine and Genomics, Department of Medicine, Surgery and Dentistry, Scuola Medica Salernitana, University of Salerno, 84084 Baronissi, Italy; [email protected] (F.R.); [email protected] (Y.D.); [email protected] (A.S.) 3 Department of Medicine, Surgery and Dentistry, Scuola Medica Salernitana, University of Salerno, 84084 Baronissi, Italy; [email protected] (M.C.); [email protected] (G.G.) 4 Unit of Cardiology, Clinica Montevergine S.p.A., 83013 Mercogliano, Italy; [email protected] * Correspondence: [email protected] Received: 18 June 2020; Accepted: 2 July 2020; Published: 6 July 2020 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: precision medicine; personalized medicine; clinical application; genomics 1. Introduction Over the last century, there has been a gradual increase in average life expectancy [1]. Today, for the first time in history, most people can expect to live into their sixties and beyond. Population aging represents one of the most important demographic features worldwide [2] and it is poised to become one of the most significant social transformations of the twenty-first century, Genes 2020, 11, 747; doi:10.3390/genes11070747 www.mdpi.com/journal/genes Genes 2020, 11, x; doi: FOR PEER REVIEW 2 of 24 poised to become one of the most significant social transformations of the twenty-first century, with implications in all aspects of society [3,4]. One of the major consequences of a rapidly aging Genespopulation2020, 11, 747[5] is the increasing burden of chronic diseases associated with age and related healthcare 2 of 24 costs [6]. The most common chronic diseases linked to an aging society are the following: cardiovascular disease; diabetes; neurodegenerative diseases; most cancers [7]. The management of withcomplex implications chronic diseases in all aspects is becoming of society a serious [3, 4social]. One and of economic the major trouble consequences for the world's of a elderly rapidly aging populationpopulation [ 5and] is represents the increasing a huge burden challenge of chronicfor national diseases and international associated health with age care and budgets related [8]. healthcare costs [6The]. The general most consensus common is chronic that these diseases types linkedof disorders to an agingcan be society best tackled are the by following: effective primary cardiovascular disease;prevention diabetes;, demonstrating neurodegenerative that pathologica diseases;l processes most cancersbegin years [7]. before The management the appearance of of complex clinical chronic diseasessymptoms. is becoming Effective primary a serious prevention social and can economic be challenging. trouble The for growing the world’s investment elderly in genomic population and representsresearch has a huge raised challenge great expectations for national concerning and international its effects on healthbiomedicine care budgetsto study susceptibility [8]. to cancer and other chronic diseases and to promote new preventive interventions [9]. An ambitious The general consensus is that these types of disorders can be best tackled by effective primary challenge for medicine is to guarantee targeted care paths beginning with more personalized prevention, demonstrating that pathological processes begin years before the appearance of clinical approaches. To achieve this goal, in the genomic era we have already approached an exciting period symptoms.of medicine, Effective where primarya convergence prevention of genomics, can be challenging. bioinformatics The growingand new investment molecular intechniques, genomic research haspromises raised greatto improve expectations our understanding concerning of its the effects genetic on basis biomedicine of many diseases to study, as susceptibility shown in Figure to cancer 1. and otherWith chronic this greater diseases understanding and to promote comes the new possibility preventive of redefining interventions disease [9]. mechanism An ambitiouss at higher challenge for medicineresolution iss to and guarantee, along with targeted this, caretargeting paths with beginning more precise with more therapy personalized [10] (e.g., preventing approaches. its To onset achieve this goal,andin enabling the genomic early detection, era we have as well already as tailoring approached therapy an to exciting patients period’ characteristics of medicine, [11] where). a convergence of genomics,Among bioinformaticsage-related degenerative and new molecularconditions, techniques, cardiovascular promises and neurodegenerative to improve our understanding diseases of theaccount genetic for basis the majority of many of diseases, hospitalizations, as shown healthcare in Figure spending1. With and this mortality greater understandingworldwide. Due comesto the the large number of people who are potentially affected by these conditions, this puts pressure on possibility of redefining disease mechanisms at higher resolutions and, along with this, targeting with more health systems, increasing the demand for care, services and technologies to prevent and treat these precise therapy [10] (e.g., preventing its onset and enabling early detection, as well as tailoring therapy to types of non-communicable diseases [12]. patients’ characteristics [11]). PRECISION MEDICINE PERSONALIZED MEDICINE Clinical phenotype (blood pressureweight, height, clinical features) Enviroment (lifestyle, diet, medication, nutrition, pollution) Molecular analysis (epigenomics, genomics, metabolomics, proteomics, lipidomics, transcriptomics) FigureFigure1. 1. AnAn ambitious challenge challenge for for medicine medicine is to is guarantee to guarantee targeted targeted care paths care, paths,beginning beginning with with moremore personalized personalized approaches. approaches. To Toachieve achieve this thisgoal, goal, it is necessary it is necessary to have to a have multi a-level multi-level approach approach towardstowards patients. patients.At At molecular molecular level level the the multi multi omics omics approach approach (transcriptomic, (transcriptomic, metabolomics, metabolomics, genomic, proteomics,genomic, proteomics, epigonomics) epigonomics) provides prov a deeperides a deeper understanding understanding ofpatient of patient conditions conditions from from thethe original causesoriginal of cause diseasess of disease to the functionals to the functional consequences. consequences. This This information information should should be be integrated integrated with with the study ofthe the study “exposome”, of the “exposome”, defined asdefined the totality as the totality of exposure of exposure experienced experienced by anby an individual individual during during their life their life and the health impact of those exposures (Wild CP. Complementing the genome with an and the health impact of those exposures (Wild CP. Complementing the genome with an “exposome”: “exposome”: The outstanding challenge of environmental exposure measurement in molecular The outstanding challenge of environmental exposure measurement in molecular epidemiology. Cancer epidemiology. Cancer Epidemiol Biomarkers Prev. 2005; 14(8):1847–1850). Together with the study of Epidemiol Biomarkers Prev.
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