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Contents
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1 The Role of Laboratory Medicine in the Clinical Context . . . . . . . . . . . . . . . . . . . 1
Marcello Ciaccio
2 The Laboratory Diagnostic Process . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7
Mario Plebani
3 Elements of Biomedical Laboratory Organization . . . . . . . . . . . . . . . . . . . . . . . . . 15
Giuseppe Lippi, Camilla Mattiuzzi, and Chiara Bovo
4 The Role of Statistics in Laboratory Medicine . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21
Matteo Vidali
5 Elements of Metrology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43
Orazio Ruzzenente and Claudio Brentegani
6 The Pre-analytical Phase . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47
Davide Giavarina
7 The Quality of Laboratory Results: Sources of Variability,
Methods of Evaluation, and Estimation of Their Clinical Impact . . . . . . . . . . . . . 57
Ferruccio Ceriotti and Mauro Panteghini
8 Principles of Immunochemistry . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 63
Antonio Fortunato
9 General Information on Laboratory Tests and Biomarkers . . . . . . . . . . . . . . . . . . 77
Giuseppe Lippi, Elisa Danese, and Martina Montagnana
10 Enzymes and Their Clinical Use . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83
Ilenia Infusino, Ferruccio Ceriotti, and Mauro Panteghini
11 Liver: From Biochemistry to Clinical Biochemistry . . . . . . . . . . . . . . . . . . . . . . . . 95
Marcello Ciaccio, Luisa Agnello, and Anna Maria Ciaccio
12 Protein Diagnostics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 125
Maria Stella Graziani and Anna Caldini
13 Biomarkers of Nutritional Status . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 139
Marcello Ciaccio, Luisa Agnello, Rosaria Vincenza Giglio,
and Anna Maria Ciaccio
14 Dyslipidemias. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 145
Marcello Ciaccio, Luisa Agnello, Bruna Lo Sasso, Rosaria Vincenza Giglio,
and Anna Maria Ciaccio
15 Hematological Diagnostics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 163
Gian Cesare Guidi
16 Immunohematology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 195
Gianluca Gessoni
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17 Hemostasis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 221
Giuseppe Lippi, Gian Luca Salvagno, and Massimo Franchini
18 Kidney . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 237
Michele Mussap
19 Physical, Chemical, and Morphological Urine Examination . . . . . . . . . . . . . . . . . 253
Fabio Manoni
20 Hydroelectrolytic Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 269
Marcello Ciaccio, Anna Maria Ciaccio, and Luisa Agnello
21 Blood Gas Analysis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 283
Paolo Carraro
22 Cardiac Biomarkers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 295
Aldo Clerico and Martina Zaninotto
23 Biomarkers of Stroke . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 307
Marcello Ciaccio and Luisa Agnello
24 Thrombophilia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 313
Marcello Ciaccio
25 Endocrine System . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 317
Marcello Ciaccio, Luisa Agnello, Giulia Bivona, Anna Maria Ciaccio, and
Bruna Lo Sasso
Contents
26 Diabetes Mellitus: From Definition to Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . 383
Marcello Ciaccio, Anna Maria Ciaccio, and Luisa Agnello
27 Diabetes Mellitus: The Role of the Laboratory . . . . . . . . . . . . . . . . . . . . . . . . . . . . 399
Andrea Mosca and Martina Montagnana
28 Metabolic Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 411
Marcello Ciaccio, Anna Maria Ciaccio, and Luisa Agnello
29 Hypoglycemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 415
Marcello Ciaccio and Luisa Agnello
30 The Role of Laboratory in Pregnancy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 423
Marcello Ciaccio and Luisa Agnello
31 Hereditary Metabolic Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 437
Carlo Corbetta and Carlo Dionisi Vici
32 Hyperphenylalaninemias, Tyrosinemias, Glycogenosis,
Hyperammonemia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 447
Marcello Ciaccio and Luisa Agnello
33 Circulating Biomarkers in Oncology: Areas of Application,
Critical Issues, and Perspectives . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 455
Massimo Gion, Chiara Trevisiol, and Aline S. C. Fabricio
34 Liquid Biopsy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 467
Marcello Ciaccio
35 Biological Fluids . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 475
Gaetato Bernardi, Cosimo Ottomano, and Sabrina Buoro
36 Laboratory Diagnostics in Autoimmune Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . 489
Tommaso Trenti, Alessandra Melegari, and Chiara Bonaguri
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37 Laboratory Diagnostics in Allergic Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 501
Alda Tiziana Scacchetti and Tommaso Trenti
38 Biomarkers of Bone Remodeling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 509
Franca Pagani and Martina Zaninotto
39 Alzheimer’s Disease and Other Neurodegenerative Dementias . . . . . . . . . . . . . . . 527
Giulia Sancesario and Sergio Bernardini
40 In Vivo Clinical Biochemistry . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 533
Caterina Tonon, Raffaele Lodi, Claudia Testa, and Stefania Evangelisti
41 Clinical Biochemistry of the Mind . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 553
Silvia Pellegrini and Pietro Pietrini
42 Clinical Molecular Biology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 565
Ettore Domenico Capoluongo and Giuseppe Castaldo
43 Fever of Unknown Origin . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 577
Marcello Ciaccio, Luisa Agnello, and Anna Maria Ciaccio
44 Biomarkers of Inflammation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 583
Marcello Ciaccio, Luisa Agnello, and Anna Maria Ciaccio
45 Biomarkers of Sepsis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 589
Giuseppe Lippi, Gianfranco Cervellin, Marcello Ciaccio, and Luisa Agnello
46 Laboratory Medicine and Exercise . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 597
Marcello Ciaccio and Luisa Agnello
47 Clinical Biochemistry of Exercise . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 601
Giuseppe Lippi and Nicola Maffulli
48 Preoperative Laboratory Test . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 611
Marcello Ciaccio
49 The Role of Laboratory in Urgency/Emergency . . . . . . . . . . . . . . . . . . . . . . . . . . . 615
Marcello Ciaccio, Luisa Agnello, and Paolo Carraro
50 Biological Drugs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 621
Marcello Ciaccio, Bruna Lo Sasso, Salvatore Milano,
and Caterina Maria Gambino
51 Mass Spectrometry in Clinical Biochemistry and Laboratory Medicine . . . . . . . 631
Giorgio Federici and Marcello Ciaccio
52 Toxicology and Analytical Pharmacology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 641
Sergio Bernardini, Simona Martello, Antonello Nonnato,
and Davide Farci Santarcangeli
53 Pharmacotoxicology of Substances of Abuse . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 659
Roberta Pacici, Simona Pichini, Manuela Pellegrini, and Paolo Berretta
54 Applications of “Omics” Sciences in the Laboratory . . . . . . . . . . . . . . . . . . . . . . . 683
Valeria D’Argenio, Barbara Lombardo, Marcella Nunziato, and Lucio Pastore
55 COVID-19 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 693
Marcello Ciaccio, Luisa Agnello, and Rosaria Vincenza Giglio
56 From Aging to Healthy Longevity: Innovation in Medicine Including
Predictive Medicine and Laboratory Medicine Approaches. . . . . . . . . . . . . . . . . .705
Francesco Salvatore
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57 Biobanks of Biomedical Interest . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 713
Marialuisa Lavitrano, Barbara Parodi, Maria Grazia Daidone,
Mattia Barbareschi, Aldo Scarpa, Matteo Macilotti, Sara Casati,
and Rita Lawlor
58 Health Technology Assessment in Laboratory Medicine . . . . . . . . . . . . . . . . . . . . 721
Lucrezia Ferrario, Elisabetta Garagiola, Fabrizio Schettini,
and Emanuela Foglia
Appendices . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 731
Contents
About the Editor
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Marcello Ciaccio, MD, PhD Marcello Ciaccio, specialist in
Endocrinology and Metabolic Diseases, is Full Professor of Clinical
Biochemistry and Laboratory Medicine and President of the School of
Medicine at the University of Palermo. He is Director of the Institute
of Clinical Biochemistry, Clinical Molecular Medicine and Clinical
Laboratory Medicine, Department of Biomedicine, Neurosciences
and Advanced Diagnostics at the University of Palermo. He is also
Director of the Department of Laboratory Medicine– A.O.U.P.Palermo
“P. Giaccone”. He is member of the Commission for National
Scientic Qualication (ASN) 2021–2023 for the Scientic Sector 05/
E3-Clinical Biochemistry and Clinical Molecular Biology. He is past
President (2016–2017) and has been elected for the biennium 2024–
2025 President of the Italian Society of Clinical Biochemistry and
Clinical Molecular Biology– Laboratory Medicine (SIBioC).
over 400 scientic publications in journals with national and international relevance. His research mainly aims to identify and clinically
validate new biomarkers in the eld of cardiovascular, metabolic,
infectious, and neurodegenerative diseases. He is also a member of
the Editorial Board of numerous international journals and has drafted
Guidelines and Consensus Documents on various pathologies and
clinical conditions.
Prof. Ciaccio is engaged in intense research activity, as attested by
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The Role ofLaboratory Medicine
Request
Transport
Sample analysis
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intheClinical Context
MarcelloCiaccio
1
Introduction
It is more important to know what kind of person has a disease
than to know what kind of disease a person has.
(Hippocrates)
This is nowadays the essence of laboratory medicine, as
well as one of the objectives it sets as a goal to be achieved.
It studies biological samples from humans (in vitro analysis
of blood, urine, feces, etc.) or in humans themselves (in vivo
analysis by nuclear magnetic resonance spectroscopy), those
chemical and physical parameters that can provide information on physiological and/or pathological processes occurring at various levels of structural organization and, therefore,
of systems, organs, tissues, cells, and even single molecules
(DNA, proteins, etc.). Until a little more than a decade ago,
laboratory medicine played a supporting role in clinical
activities, often in the role of passive service provider.
More recently, it has acquired an active and central role in
our health care reality: it provides essential elements for
many clinical decisions (often early for the onset of symptoms), allows risk stratication, and represents the basis for
Personalized Medicine, a primary objective for a “sustainable” Health Care System.
It has been estimated that laboratory investigations
account for less than 2% of the budget of healthcare systems,
although they inuence more than 70% of clinical decisions.
This has happened thanks to a new awareness on the part of
professionals working in this sector and a modern approach
to patient care, placing the patient at the center of the entire
diagnostic pathway. The latter begins with the clinical question formulated by the physician and an initial diagnostic
hypothesis, followed by the request for appropriate laboratory tests “tailored” to the patient’s characteristics, which the
clinical laboratory transforms into a valuable contribution to
the resolution of the clinical problem.
George D.Lundberg, in his “Brain-to-brain loop” model,
highlights how the request for a laboratory test originates in
the brain of a physician in front of a patient and ends only
when the laboratory information reaches the brain of the
same physician, who can then manage the clinical case in the
most appropriate way (Fig.1.1).
Noteworthy, laboratory medicine is a complex reality: it is
enough to consider that a small–medium-sized laboratory
performs services in multiple elds (clinical chemistry,
hematology, hemostasis and coagulation, immunology, pharmacology, molecular biology, microbiology and virology,
Clinical Physician
Sample
collection
Patient/Citizen
Laboratory
Physician
Report
M. Ciaccio (*)
Department of Biomedicine, Neurosciences and Advanced
Diagnostics, Institute of Clinical Biochemistry, Clinical Molecular
Medicine and Clinical Laboratory Medicine, University Hospital
“P.Giaccone”, Palermo, Italy
Department of Laboratory Medicine, University Hospital
“P.Giaccone”, Palermo, Italy
e-mail: marcello.ciaccio@unipa.it
© The Author(s), under exclusive license to Springer Nature Switzerland AG 2023
M. Ciaccio (ed.), Clinical and Laboratory Medicine Textbook, https://doi.org/10.1007/978-3-031-24958-7_1
Identification
Sample
Fig. 1.1 Brain-to-brain loop. (Copyright EDISES 2021. Reproduced
with permission)
Sample
processing/storage
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M. Ciaccio
autoimmunity), which require the support of different professionals (Physician, Biologist, Biotechnologist, Biomedical
Laboratory Technician, Chemist) with different but complementary skills, in a socio-political-economic context that is
sometimes “schizophrenic.”
In addition, clinical laboratories are asked to constantly
increase productivity, with fewer and fewer resources, but
without compromising quality. Given that health is a priceless asset, the resources used to maintain its integrity should
be considered a value and not a cost.
Today, the clinical laboratoryis an essential tool for most
branches of medicine, a “transversal” discipline that actively
participates in the diagnosis, differential diagnosis, prognosis, therapy, monitoring of pathology, and therapy. Thus, laboratory medicine represents a clinical discipline, irreplaceable
in hospital and territorial medicine, with a fundamental function in drafting and validating diagnostic-clinical-therapeutic
pathways and an active role alongside the patient.
Integration Between Laboratory andClinic
The perspective of the medicine of the third millennium must
necessarily involve the integration among different disciplines, both clinical and diagnostic. Indeed, it would be
appropriate to overcome the sectorial approach and to adopt
an integrated vision of medicine, with the common goal of
improving the patient’s outcome.
In medicine, the outcome is the result of a medical intervention in terms of both health and costs; laboratory diagnostics can inuence the outcome as it participates in the
formulation of faster and more accurate diagnoses, orients
toward more appropriate therapeutic choices, contributes to
the denition of the prognosis and, therefore, to the start of
effective diagnostic and therapeutic pathways; ultimately,
therefore, improving the patient’s outcome implies increasinghis/her degree of satisfaction and life quality.
The integration between the laboratory and the clinic can
be pursuedby different approaches; for example, through the
introduction of shared diagnostic algorithms in the laboratory practice or through the inclusion of interpretative comments in the report to ensure the correct use of biochemical
data and possibly suggesting the action to be taken. According
to a modern vision, the laboratory report should not be considered as a simple report of a numerical data, but the transmission of a biochemical information that arises from precise
clinical reasons and has the purpose of improving the accuracy of the diagnosis and therapeutic treatment.
A recent survey of primary care physicians in the United
States found that more than 70% of physicians consider it
useful to report previous results and interpretive comments
in order to use the laboratory result correctly and improve
the communication process between the laboratory and the
clinic. The same study shows, however, that only 4% of
physicians turn to laboratory medicine specialists for scientic or medical advice, although they recognize this practice as extremely useful. This apparent contradiction is
probably an expression of the discrepancy between the
large number of tests introduced in recent years and the difculty in transmitting the necessary knowledge for their
use, an activity in which laboratory professionals must be
protagonists.
From this point of view, the integration between the laboratory and the clinic can be achieved by implementing all the
necessary actions to ensure appropriateness in the whole process, from the clinical question to the formulation of a
request, the execution of one or more laboratory tests, the
production of a reportandits interpretation, up to the clinical
decision, and the management of the patient.
Appropriateness inLaboratory Medicine
The concept of appropriateness in medicine shows multiple
facets because it can be declined into educational, prescriptive, organizational, analytical, diagnostic, hospitalization,
and therapeutic appropriateness; it involves, therefore, different aspects and professional gures. It should be emphasized that professional appropriateness is inuencedby the
available evidence on the efcacy/safety of health care interventions, while organizational appropriateness meets its own
“bottleneck” in the available resources. In the last years, several denitions of appropriateness have been formulated,
depending on whether it is considered from the point of view
of the Patient, Society, Health System, or Health Worker. The
rst denition, dating back to 1984 by Woodward etal., proposes an “ethical” medicine model in which appropriateness
is proper to any act able to contribute to the patient’s health
in a positive way. Since then, different models of appropriateness have been proposed; today, a balanced view of
appropriateness includes any intervention related to the need
of the patient or the community, provided in the appropriate
manner and time, based on recognized standards, with a positive balance among benets, risks, and costs.
It is possible to identify almost ve variables related to
the appropriateness of the professional action: the characteristics of the patient (clinical, distinguishing acute and chronic
condition of the disease, cultural, etc.), the characteristics of
the service (efcacy, safety, cost, acceptability, continuity of
care, etc.), the time required to provide the service in relation
to the patient’s clinical history, the characteristics of the level
of care (high speciality, critical area, ordinary hospital stay,
day hospital, specialist consultancy, outpatient care), andthe
characteristics of the professional providing the service
(degree of specialist training, specic professional experience, etc.).
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3
In the reality of laboratory medicine, prescriptive appropriateness is of crucial importance: clinical laboratory information comes, in fact, from the appropriateness of the
request and becomes valuable if it can inuence the clinical
decision-making process and the patient’s health outcomes.
The issue of appropriateness in laboratory medicine is
considered, today, of primary importance: a recent metaanalysis has estimated the rate of underutilization of laboratory tests at 44.8%, while the rate of overutilization at20.6%,
making it necessary to carefully analyze the appropriateness
in laboratory medicine. Moreover, it should not be forgotten
that a “badly requested” test often generates a series of other
inappropriate tests if the result is out of the reference values,
thus generating a vicious circle that can have not only health
but also economic, legal, and social consequences.
Laboratory medicine professionals have a decisive role in
the dissemination of appropriate practices. There are, in fact,
tools to full relevance of the laboratory that allow to actively
intervene on the appropriateness of prescription, such as the
use of reex testing, the introduction of “rules” managed by
the computer systems of the laboratory (Laboratory
Information Systems, LIS) to “block” inappropriate requests
in relation to the time of execution, specic diagnostic suspects or departments of origin, etc..
Evidence-based medicine (EBM) is the basis of the concept of appropriateness. EBM is a discipline of recent development and diffusion based on the systematic review of
scientic evidence on a specic clinical situation in relation
to its diagnosis, monitoring, and treatment to ensure accurate
decisions about patient care, while recognizing the need to
integrate evidence with clinical expertise. Several tools
derived from EBM have been identied to promote appropriateness, with different areas of application and promoting
subjects: guidelines, diagnostic and therapeutic care pathways (DTCP), procedures and operating protocols shared by
the Scientic Societies, essential levels of care, notes of the
drug Agencies, such as the National Agency for Food and
Drug Administration and Control (NAFDAC) or the Agenzia
Italiana del Farmaco (AIFA).
Guidelines can be dened as recommendations for clinical behavior developed through a systematic review of the
literature and expert opinion, with the aim of helping physicians and patients to choose the most appropriate models of
care in specic clinical situations. The primary goals of
guidelines are to minimize variability in clinical decisions
related to lack of knowledge and subjectivity and facilitate
the transfer of research into clinical practice.
DTCPs represent the contextualization of the guidelines
related to a pathology or clinical problem in the specic
organizational reality of a health care facility, also considering the available resources. They result, therefore, from the
integration of two components: the clinical recommendations of the reference guidelines and the elements of the local
context that can condition their application. Indeed, one of
the main limitations to the application of EBM is that the
guidelines refer to a “general” and not to the “particular”
patient that the professional must treat in the clinical practice, with its clinical complexity and pathological
characteristics.
Another useful tool for knowledge transfer is the dissemination of protocols, i.e., consensusdocuments that formalize
the sequence of actions to be carried out to achieve an objective, thus describing a predened diagnostic and therapeutic
behavioral pattern.
Precision Medicine
Laboratory medicine is going through a moment of radical
change, in which the traditional approach to the diagnosis
and treatment of pathologies by the evaluation of clinical
signs and symptoms has been converted, today, into an individual approach, on the single patient, in which laboratory
information has made quantiable what before was generalized and, sometimes, subjective. This revolution of thought
was born in the 19th century when the Canadian physician
Sir William Osler highlighted the great variability among
individuals. However, the passage of time, the discovery of
blood types, the evidence of different responses to certain
pharmacological treatments led tothe concept of personalization. In this context, the idea of a new, modern, and kaleidoscopic medicine was born, initially called the “4Ps” to
indicate a Predictive, Preventive, Personalized, and
Participatory medicine. These have become the watchwords
for an approach to medicine that considers environmental
and genetic factors, lifestyle, individual susceptibility to disease, variability in response to therapy. Allthese represent
the concept of the medicine of the Third Millennium, and the
precision medicine plays a key role in the evaluation of clinical, genetic, and environmental information ad personam. It
involves the integration of multidisciplinary teams to promote the health and theeducation of the patient and supports
disease prevention and treatment. The Public Health System
plays an equally important role in the health status of the
individual. “Despite the advances in molecular genetics...as
genetic tests are proliferating in the U.S. population, their
appropriate usage in the public health setting needs careful
scrutiny,” stated Muin J.Khoury, in 1996, emphasizing the
ever-increasing advances in molecular diagnostics and their
intersection with the Public Health System. Technological
progress in health care, the development of new disciplines
(e.g., omics, epigenetics), and an individual approach to the
patient have generated, in the 20years following Khoury’s
statement, a scientic debate that is still topical.
Changes in laboratory medicine have led to changes in
public health. Public health refers to a body responsible for
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M. Ciaccio
solving problems related to the collective health of a population. It aims to increase life expectancy, improve quality of
life, and prevent disease.
According to a traditional view, the public health is simply involved in increasing the number of individuals who can
benet from a given intervention (e.g., proper nutrition and/
or use of appropriate medications) over those who cannot,
without individual personalization. A modern view denes
public health by the term “precision public health,” characterized by the discovery, validation, and optimization of care
strategies for a better population representation and
stratication.
This is achieved with the aid and integration of new clinical interventions through the monitoring of the effectiveness
of existing health maintenance and prevention programs.
The integration between Precision Medicine and Precision
Public Health nds application in all branches of medicine,
thanks also to the remarkable development of omics sciences. The object of omics is to study genes (genomics),
transcripts (transcriptomics), proteins (proteomics), and
metabolites (metabolomics) that are expressed by a cell,
allowing a global vision that considers its high degree of
complexity. They allow the increasingly detailed characterization of biological processes (genetic, cellular, and biochemical) associatedwith the clinical phenotypes of diseases,
thus leading to the identication of inter-individual differences. This increasingly personalized knowledge of the individual allows us to make early diagnoses and manage the
course of the disease and its associated complications in the
best possible way, leading to the development of personalized, more effective, and safer therapies. This will allow, in
the near future, to obtain a large amount of data, making possible a greater stratication of the population and identifying
individuals at high, medium, and low risk of a particular disease. Moreover, this background information will make it
possible to identify only some individuals to targeted screening (with savings in the request for second/third level examinations) and thus achieve ad hoc primary prevention.
The applications of precision medicine are numerous and
range from oncology to diabetology to pathologies with a
lower incidence, such as epilepsy and liver cirrhosis. In the
eld of Cancer Precision Medicine (CPM), the application of
the most modern diagnostic methods has made it possible to
personalize cancer therapies and monitor therapeutic
treatments.
Noteworthy,precision medicine does not only evaluate
the individual complexity deriving from the DNA of the
person, but it also pays attention to the DNA of the “hosts”
of the human organism (microbiome). Indeed, it is known
that the microbiome inuences immunity and metabolism;
therefore, its knowledge, through modern sequencing techniques, plays a key role in personalized medicine. Recently,
Roy C. Ziegelstein has suggested the term personomics,
which considers the individual as the inseparable whole of
a genetic imprint and his peculiar social and economic
characteristics, both fundamental aspects to know the person as a whole and to concretely apply a personalized medicine ad personam. However, in order to make precision
medicine a routine practice, accessible to everyone, it will
be necessary to enhance the clinical validity of the treatments currently in use, to progress with the discovery of
new diagnostic tests and to consolidate the knowledge of
health professionals regarding the application of new methods of diagnosis and treatment. It will also be necessary to
improve the communication with patients and integrate
available information. To achieve all this, a coordinated and
integrated approach among the different medical disciplines is required, based on evidence, to assist the patient
along the continuum from health to disease and integrate
precision medicine with the new and modern vision of
precision public health.
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