Precision Medicine for Epidemiology and Public Health

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Epidemiology".

Deadline for manuscript submissions: closed (10 April 2024) | Viewed by 19055

Special Issue Editors


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Guest Editor
Department of Medical and Surgical Sciences and Advanced Technologies "GF Ingrassia", University of Catania, Via S.Sofia, Catania, Italy
Interests: public health; epidemiology; precision nutrition; nutrigenetics; nutrigenomics; nutriepigenomics; molecular biomarkers

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Guest Editor
Department of Medical and Surgical Sciences and Advanced Technologies "GF Ingrassia", University of Catania, Catania, Italy
Interests: public health; epidemiology

E-Mail Website
Guest Editor
Department of Medical and Surgical Sciences and Advanced Technologies "GF Ingrassia", University of Catania, Catania, Italy
Interests: public health; epidemiology

Special Issue Information

Dear Colleagues,

Precision medicine represents an emerging field for the early identification of those factors (e.g., biological, genetic and epigenetic, social, environmental, and clinical factors) that have a greater impact on people’s health and wellbeing. In this scenario, precision medicine—supported by a large amount of health data—could guide epidemiology and public health issues through the development of novel and more targeted preventive strategies.

In this scenario, the proposed Special Issue aims to provide novel insights into the role of precision medicine in human health and public health issues. 

In recent decades, there has been an increased interest in the field of precision medicine, especially in accurately identifying effective treatments and preventive strategies targeted toward at-risk groups. Recently, an explosion of healthcare data and advances in smart technologies provide epidemiologists with the instruments for applying precision health, both in preventing disease and promoting health.

Here, we aim to provide an overview of the opportunities and challenges concerning the application of precision medicine in the fields of epidemiology and public health, through original research, reviews, and communications.

Prof. Dr. Martina Barchitta
Dr. Roberta Magnano San Lio
Dr. Giuliana Favara
Guest Editors

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Keywords

  • epidemiology
  • precision medicine
  • precision public health
  • human health
  • risk factors
  • prevention
  • diseases

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Published Papers (9 papers)

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Research

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11 pages, 462 KiB  
Article
Self-Reported Sleep Duration Is a Useful Tool to Predict Sarcopenia in Chilean Older Adults: Evidence from the ALEXANDROS Longitudinal Study
by Myriam Gutiérrez, Carlos Márquez, Lydia Lera, Patricio Peirano, Felipe Salech and Cecilia Albala
J. Pers. Med. 2024, 14(6), 578; https://doi.org/10.3390/jpm14060578 - 28 May 2024
Cited by 1 | Viewed by 1232
Abstract
Age-related sleep disorders share common pathways with sarcopenia. Prospective data from Latin American populations are scarce, and the association between sleep disorders and sarcopenia in Chileans remains unknown. Thus, we aimed to study the longitudinal association between sleep disorders and sarcopenia in a [...] Read more.
Age-related sleep disorders share common pathways with sarcopenia. Prospective data from Latin American populations are scarce, and the association between sleep disorders and sarcopenia in Chileans remains unknown. Thus, we aimed to study the longitudinal association between sleep disorders and sarcopenia in a cohort study of 1116 community-dwelling Chilean older people ≥60 years old from the ALEXANDROS cohorts. After the exclusion criteria, 318 subjects were followed. Sociodemographic data, self-reported chronic diseases, sedentarism, sleep characteristics, anthropometric measurements, handgrip strength, and muscle performance were assessed. Results indicated that at baseline, the prevalence of sarcopenia was 24.10% without gender differences, and the prevalence of self-reported sleep problems was 23.3%, higher in women (26.46% versus 17.15% in men). The adjusted Cox regression models for sarcopenia showed an association between sarcopenia, sleep disorders (HR = 2.08, 95% IC 1.14–3.80), and long sleep duration (HR = 2.42, 95% IC 1.20–4.91). After 8.24 years of follow-up, there were 2.2 cases of sarcopenia per 100 person-years. This study demonstrates that sleep disorders are an independent risk factor for sarcopenia in Chilean older people. The identification of sleep disorders through self-reported data provides an opportunity for early identification of risk and cost-effective sarcopenia prevention. Full article
(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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14 pages, 998 KiB  
Article
Associations between Chronic Kidney Disease and Migraine Incidence: Findings from a Korean Longitudinal Big Data Study
by Mi Jung Kwon, Jwa-Kyung Kim, Min-Jeong Kim, Dae Myoung Yoo, Na-Eun Lee, Kyeong Min Han, Nan Young Kim, Ho Suk Kang, Hyo Geun Choi and Eun Soo Kim
J. Pers. Med. 2024, 14(4), 356; https://doi.org/10.3390/jpm14040356 - 28 Mar 2024
Viewed by 2706
Abstract
While headaches frequently occur in individuals with chronic kidney disease (CKD), there are few statistical evaluations of their connection to migraines in population-based studies. In this nationwide longitudinal follow-up study of Korean health examination data (2002–2019), a total of 15,443 participants with CKD [...] Read more.
While headaches frequently occur in individuals with chronic kidney disease (CKD), there are few statistical evaluations of their connection to migraines in population-based studies. In this nationwide longitudinal follow-up study of Korean health examination data (2002–2019), a total of 15,443 participants with CKD and 61,772 matched controls were enrolled. We applied overlap-weighted Cox proportional hazard regression models to assess hazard ratios, examining the correlation between CKD and the development of migraines. After accounting for various factors, we observed a modest reduction of approximately 11% in the likelihood of migraine occurrence among CKD patients (95% confidence intervals = 0.81–0.97) during the 16-year monitoring period. Subgroup analysis revealed a significant association among specific demographic and health conditions, including individuals aged 70 or older, females, overweight individuals, nonsmokers, and those without hypertension or diabetes. Our research may indicate a potential relationship between CKD and the onset of migraines in Korean adults, suggesting a slight reduction in the probability of the occurrence of migraines among those with CKD. These findings emphasize the need for attentive follow-up and preventive management in individuals without the identified protective factors, particularly in male CKD patients under the age of 70 with hypertension. Full article
(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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19 pages, 1358 KiB  
Article
Lowering Barriers to Health Risk Assessments in Promoting Personalized Health Management
by Hayoung Park, Se Young Jung, Min Kyu Han, Yeonhoon Jang, Yeo Rae Moon, Taewook Kim, Soo-Yong Shin and Hee Hwang
J. Pers. Med. 2024, 14(3), 316; https://doi.org/10.3390/jpm14030316 - 18 Mar 2024
Cited by 1 | Viewed by 1640
Abstract
This study investigates the feasibility of accurately predicting adverse health events without relying on costly data acquisition methods, such as laboratory tests, in the era of shifting healthcare paradigms towards community-based health promotion and personalized preventive healthcare through individual health risk assessments (HRAs). [...] Read more.
This study investigates the feasibility of accurately predicting adverse health events without relying on costly data acquisition methods, such as laboratory tests, in the era of shifting healthcare paradigms towards community-based health promotion and personalized preventive healthcare through individual health risk assessments (HRAs). We assessed the incremental predictive value of four categories of predictor variables—demographic, lifestyle and family history, personal health device, and laboratory data—organized by data acquisition costs in the prediction of the risks of mortality and five chronic diseases. Machine learning methodologies were employed to develop risk prediction models, assess their predictive performance, and determine feature importance. Using data from the National Sample Cohort of the Korean National Health Insurance Service (NHIS), which includes eligibility, medical check-up, healthcare utilization, and mortality data from 2002 to 2019, our study involved 425,148 NHIS members who underwent medical check-ups between 2009 and 2012. Models using demographic, lifestyle, family history, and personal health device data, with or without laboratory data, showed comparable performance. A feature importance analysis in models excluding laboratory data highlighted modifiable lifestyle factors, which are a superior set of variables for developing health guidelines. Our findings support the practicality of precise HRAs using demographic, lifestyle, family history, and personal health device data. This approach addresses HRA barriers, particularly for healthy individuals, by eliminating the need for costly and inconvenient laboratory data collection, advancing accessible preventive health management strategies. Full article
(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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12 pages, 2142 KiB  
Article
A Novel Risk Calculator to Predict Erectile Dysfunction in HIV-Positive Men
by Narcis Chirca, Anca Streinu-Cercel, Marius Stefan, Justin Aurelian and Cristian Persu
J. Pers. Med. 2023, 13(4), 679; https://doi.org/10.3390/jpm13040679 - 18 Apr 2023
Cited by 2 | Viewed by 1901
Abstract
HIV infection is considered to be a lifelong medical condition, requiring follow-up and treatment for decades. HIV-positive men are reported to have erectile dysfunction more often than age-matched healthy controls, and improving sexuality is known to potentially improve overall health-related quality of life. [...] Read more.
HIV infection is considered to be a lifelong medical condition, requiring follow-up and treatment for decades. HIV-positive men are reported to have erectile dysfunction more often than age-matched healthy controls, and improving sexuality is known to potentially improve overall health-related quality of life. The aim of this paper is to evaluate the presence of ED in HIV-positive men and the associated contributing factors and to create a statistical model to assess the risk to develop ED in this population. In a prospective study, we analyzed a group of HIV-positive men in a cross-sectional manner, looking at demographics, blood test results, and smoking habits. Data were statistically analyzed using the Kruskal–Wallis test. In our series, the overall incidence of ED was 48.5%, increasing with age. Our analysis showed no correlation with blood sugar level, but a very strong correlation with total serum lipids. We were able to develop and validate a risk calculator for ED in HIV-positive men. Full article
(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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13 pages, 1023 KiB  
Article
Prognosis Factors of Patients Undergoing Renal Replacement Therapy
by José Manuel Muñoz-Terol, José L. Rocha, Pablo Castro-de la Nuez, Juan José Egea-Guerrero, Luis Gil-Sacaluga, Emilio García-Cabrera and Angel Vilches-Arenas
J. Pers. Med. 2023, 13(4), 605; https://doi.org/10.3390/jpm13040605 - 30 Mar 2023
Cited by 2 | Viewed by 1542
Abstract
Background: Survival in patients with end-stage kidney disease (ESKD) on renal replacement therapy (RRT) is less than that of the general population of the same age, and depends on patient factors, the medical care received, and the type of RRT used. The objective [...] Read more.
Background: Survival in patients with end-stage kidney disease (ESKD) on renal replacement therapy (RRT) is less than that of the general population of the same age, and depends on patient factors, the medical care received, and the type of RRT used. The objective of this study is to analyze the factors associated with survival in patients undergoing RRT. Methods: We conducted a retrospective observational study of adult patients with an incident of ESKD on RRT in Andalusia from 1 January 2008 to 31 December 2018. Patient characteristics, nephrological care received, and survival from the beginning of RRT were evaluated. A survival model for the patient was developed according to the variables studied. Results: A total of 11,551 patients were included. Median survival was 6.8 years (95% CI (6.6; 7.0)). After starting RRT, survival at one year and five years was 88.7% (95% CI (88.1; 89.3)) and 59.4% (95% CI (58.4; 60.4)), respectively. Age, initial comorbidity, diabetic nephropathy, and a venous catheter were independent risk factors. However, non-urgent initiation of RRT and follow-up in consultations for more than six months had a protective effect. It was identified that renal transplantation (RT) was the most influential independent factor in patient survival, with a risk ratio of 0.13 (95% CI (0.11; 0.14)). Conclusions: The receiving of a kidney transplant was the most beneficial modifiable factor in the survival of incident patients on RRT. We consider that the mortality of the renal replacement treatment should be adjusted, taking into account both modifiable and nonmodifiable factors to achieve a more precise and comparable interpretation. Full article
(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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10 pages, 1055 KiB  
Article
Evaluation of the Association between Low-Density Lipoprotein (LDL) and All-Cause Mortality in Geriatric Patients with Hip Fractures: A Prospective Cohort Study of 339 Patients
by Xin Kang, Bin Tian, Zan-Dong Zhao, Bin-Fei Zhang and Ming Zhang
J. Pers. Med. 2023, 13(2), 345; https://doi.org/10.3390/jpm13020345 - 16 Feb 2023
Cited by 1 | Viewed by 1509
Abstract
Background: Many factors affect the prognosis of hip fractures in the elderly. Some studies have suggested a direct or indirect association among serum lipid levels, osteoporosis, and hip fracture risk. LDL levels were found to have a statistically significant nonlinear U-shaped relationship with [...] Read more.
Background: Many factors affect the prognosis of hip fractures in the elderly. Some studies have suggested a direct or indirect association among serum lipid levels, osteoporosis, and hip fracture risk. LDL levels were found to have a statistically significant nonlinear U-shaped relationship with hip fracture risk. However, the relationship between serum LDL levels and the prognosis of patients with hip fractures remains unclear. Therefore, in this study, we assessed the influence of serum LDL levels on patient mortality over a long-term follow-up period. Methods: Elderly patients with hip fractures were screened between January 2015 and September 2019, and their demographic and clinical characteristics were collected. Linear and nonlinear multivariate Cox regression models were used to identify the association between LDL levels and mortality. Analyses were performed using Empower Stats and R software. Results: Overall, 339 patients with a mean follow-up period of 34.17 months were included in this study. Ninety-nine patients (29.20%) died due to all-cause mortality. Linear multivariate Cox regression models showed that LDL levels were associated with mortality (HR = 0.69, 95%CI: 0.53, 0.91, p = 0.0085) after adjusting for confounding factors. However, the linear association was unstable, and nonlinearity was identified. An LDL concentration of 2.31 mmol/L was defined as the inflection point for prediction. A LDL level < 2.31 mmol/L was associated with mortality (HR = 0.42, 95%CI: 0.25, 0.69, p = 0.0006), whereas LDL > 2.31 mmol/L was not a risk factor for mortality (HR = 1.06, 95%CI: 0.70, 1.63, p = 0.7722). Conclusions: The preoperative LDL level was nonlinearly associated with mortality in elderly patients with hip fractures, and the LDL level was a risk indicator of mortality. Furthermore, 2.31 mmol/L could be considered a predictor cut-off for risk. Full article
(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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Review

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14 pages, 459 KiB  
Review
Psychometric Properties of Suboptimal Health Status Instruments: A Systematic Review
by Mohamed Ali Alzain, Collins Otieno Asweto, Sehar-un-Nisa Hassan, Mohammed Elshiekh Saeed, Ahmed Kassar and Bandar Alsaif
J. Pers. Med. 2023, 13(2), 299; https://doi.org/10.3390/jpm13020299 - 8 Feb 2023
Cited by 5 | Viewed by 2654
Abstract
Background: Suboptimal health status (SHS) measurement has now been recognized as an essential construct in predictive, preventive, and personalized medicine. Currently, there are limited tools, and an ongoing debate about appropriate tools. Therefore, it is crucial to evaluate and generate conclusive evidence about [...] Read more.
Background: Suboptimal health status (SHS) measurement has now been recognized as an essential construct in predictive, preventive, and personalized medicine. Currently, there are limited tools, and an ongoing debate about appropriate tools. Therefore, it is crucial to evaluate and generate conclusive evidence about the psychometric properties of available SHS tools. Objective: This research aimed to identify and critically assess the psychometric properties of available SHS instruments and provide recommendations for their future use. Methods: Articles were retrieved by following the guidelines of the PRISMA checklist, and the robustness of methods and evidence about the measurement properties was assessed using the adapted COSMIN checklist. The review was registered in PROSPERO. Results: The systematic review identified 14 publications describing four subjective SHS measures with established psychometric properties; these included the Suboptimal Health Status Questionnaire-25 (SHSQ-25), Sub-health Measurement Scale Version 1.0 (SHMS V1.0), Multidimensional Sub-health Questionnaire of Adolescents (MSQA), and the Sub-Health Self-Rating Scale (SSS). Most studies were conducted in China and reported three reliability indices: (1) the internal consistency measured by Cronbach’s α value ranged between 0.70 and 0.96; (2) the test–retest reliability; and (3) the split-half reliability coefficient values ranged between 0.64 and 0.98, and between 0.83 and 0.96, respectively. For the values of validity coefficients in the case of SHSQ-25 > 0.71, the SHMS-1.0 ranged from 0.64 to 0.87, and the SSS ranged from 0.74 to 0.96. Using these existing and well-characterized tools rather than constructing original tools is beneficial, given that the existing choice demonstrated sound psychometric properties and established norms. Conclusions: The SHSQ-25 stood out as being more suitable for the general population and routine health surveys, because it is short and easy to complete. Therefore, there is a need to adapt this tool by translating it into other languages, including Arabic, and establishing norms based on populations from other regions of the world. Full article
(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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16 pages, 662 KiB  
Review
How Wearable Sensors Can Support the Research on Foetal and Pregnancy Outcomes: A Scoping Review
by Andrea Maugeri, Martina Barchitta and Antonella Agodi
J. Pers. Med. 2023, 13(2), 218; https://doi.org/10.3390/jpm13020218 - 26 Jan 2023
Cited by 9 | Viewed by 3100
Abstract
The application of innovative technologies, and in particular of wearable devices, can potentially transform the field of antenatal care with the aim of improving maternal and new-born health through a personalized approach. The present study undertakes a scoping review to systematically map the [...] Read more.
The application of innovative technologies, and in particular of wearable devices, can potentially transform the field of antenatal care with the aim of improving maternal and new-born health through a personalized approach. The present study undertakes a scoping review to systematically map the literature about the use wearable sensors in the research of foetal and pregnancy outcomes. Online databases were used to identify papers published between 2000–2022, from which we selected 30 studies: 9 on foetal outcomes and 21 on maternal outcomes. Included studies focused primarily on the use of wearable devices for monitoring foetal vital signs (e.g., foetal heart rate and movements) and maternal activity during pregnancy (e.g., sleep patterns and physical activity levels). There were many studies that focused on development and/or validation of wearable devices, even if often they included a limited number of pregnant women without pregnancy complications. Although their findings support the potential adoption of wearable devices for both antenatal care and research, there is still insufficient evidence to design effective interventions. Therefore, high quality research is needed to determine which and how wearable devices could support antenatal care. Full article
(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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Other

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11 pages, 259 KiB  
Opinion
Advancing Precision Medicine in South Tyrol, Italy: A Public Health Development Proposal for a Bilingual, Autonomous Province
by Christian J. Wiedermann
J. Pers. Med. 2023, 13(6), 972; https://doi.org/10.3390/jpm13060972 - 9 Jun 2023
Cited by 2 | Viewed by 1660
Abstract
This paper presents a comprehensive development plan for advancing precision medicine in the autonomous province of South Tyrol, Italy, a region characterized by its bilingual population and unique healthcare challenges. This study highlights the need to address the shortage of healthcare professionals proficient [...] Read more.
This paper presents a comprehensive development plan for advancing precision medicine in the autonomous province of South Tyrol, Italy, a region characterized by its bilingual population and unique healthcare challenges. This study highlights the need to address the shortage of healthcare professionals proficient in language for person-centered medicine, the lag in healthcare sector digitalization, and the absence of a local medical university, all within the context of an initiated pharmacogenomics program and a population-based precision medicine study known as the “Cooperative Health Research in South Tyrol” (CHRIS) study. The key strategies for addressing these challenges and integrating CHRIS study findings into a broader precision medicine development plan are discussed, including workforce development and training, investment in digital infrastructure, enhanced data management and analytic capabilities, collaboration with external academic and research institutions, education and capacity building, securing funding and resources, and promoting a patient-centered approach. This study emphasizes the potential benefits of implementing such a comprehensive development plan, including improved early detection, personal ized treatment, and prevention of chronic diseases, ultimately leading to better healthcare outcomes and overall well-being in the South Tyrolean population. Full article
(This article belongs to the Special Issue Precision Medicine for Epidemiology and Public Health)
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