Public Health Genetics and Genomics

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (14 December 2022) | Viewed by 27395

Special Issue Editors


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Guest Editor
1. Department of Woman and Child Health and Public Health—Public Health Area, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
2. Section of Hygiene, University Department of Life Sciences and Public Health—Università Cattolica del Sacro Cuore, 00168 Rome, Italy
Interests: epidemiology of cancer; genetic epidemiology of cancer; epidemiological methods; public health; public health genomics

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Guest Editor
Basque Foundation for Health Innovation and Research-BIOEF, Ronda de Azkue 1, E-48902 Barakaldo, Spain
Interests: public health; genomics; genetics; proteomics; metabolomics; health technology assessment; epidemiology; systematic reviews; clinical practice guidelines

Special Issue Information

Dear Colleagues,

The field of Public Health Genomics (PHG) integrates genome-based knowledge and technologies into public policy and health services provision. Health services are expecting that human genetics will develop from a specialist health care field pertaining mainly to those small groups of patients with a risk of developing an inherited (and mainly monogenetic) disease into a significant area of mainstream medicine.

Combinations of biomarkers, predictive testing for susceptibilities, algorithms or big data and artificial intelligence analysis to develop “non-inherited” common diseases or conditions (e.g., diabetes mellitus and cancer) are regarded as falling within the field of Public Health Genomics.

The debate on “Public Health Genomics” (including frameworks and concepts such as genetic population screening through whole-genome sequencing or next-generation sequencing, metabolomics, pharmacogenetics, nutrigenetics, personalized medicine) is a hot topic in many countries around the world. The expansion of the reach of human genetics is promoted by some human geneticists and public health authority representatives, as well as scientific societies and alliances (e.g., the Public Health Genomics Foundation; the European Public Health Association; the HTAi IG on Public Health or the European Alliance of Personalised Medicine).

Genome-based knowledge needs to be properly communicated to health care professionals, the general public, and other stakeholders involved in the various tasks of public health. Different stakeholders’ literacy should be recognized in order to develop informed training or education initiatives based on their needs. Considering the increased availability of genomics technologies, the assessment of their value for the health system requires the enhancement of the HTA literacy and capability of health care professionals.

Public Health Genomics (PHG) may imply major but contested improvements for patients, large effects on the structure and financing of the public health system, and major ethical and privacy issues.

We are calling for the submission of manuscripts that report experiences, analysis, frameworks, stakeholder literacy, and HTA reports on technologies applied to PHG, including systematic reviews, observational studies, and results on national registries in the field of Public Health Genomics. Manuscripts will be peer reviewed by a set of outstanding specialists in this field of knowledge. 

Prof. Dr. Stefania Boccia
Dr. Iñaki Gutiérrez-Ibarluzea
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Published Papers (10 papers)

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Research

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16 pages, 2199 KiB  
Article
Risk-Stratified Breast Cancer Screening Incorporating a Polygenic Risk Score: A Survey of UK General Practitioners’ Knowledge and Attitudes
by Aya Ayoub, Julie Lapointe, Hermann Nabi and Nora Pashayan
Genes 2023, 14(3), 732; https://doi.org/10.3390/genes14030732 - 16 Mar 2023
Cited by 3 | Viewed by 2645
Abstract
A polygenic risk score (PRS) quantifies the aggregated effects of common genetic variants in an individual. A ‘personalised breast cancer risk assessment’ combines PRS with other genetic and nongenetic risk factors to offer risk-stratified screening and interventions. Large-scale studies are evaluating the clinical [...] Read more.
A polygenic risk score (PRS) quantifies the aggregated effects of common genetic variants in an individual. A ‘personalised breast cancer risk assessment’ combines PRS with other genetic and nongenetic risk factors to offer risk-stratified screening and interventions. Large-scale studies are evaluating the clinical utility and feasibility of implementing risk-stratified screening; however, General Practitioners’ (GPs) views remain largely unknown. This study aimed to explore GPs’: (i) knowledge of risk-stratified screening; (ii) attitudes towards risk-stratified screening; and (iii) preferences for continuing professional development. A cross-sectional online survey of UK GPs was conducted between July–August 2022. The survey was distributed by the Royal College of General Practitioners and via other mailing lists and social media. In total, 109 GPs completed the survey; 49% were not familiar with the concept of PRS. Regarding risk-stratified screening pathways, 75% agreed with earlier and more frequent screening for women at high risk, 43% neither agreed nor disagreed with later and less screening for women at lower-than-average risk, and 55% disagreed with completely removing screening for women at much lower risk. In total, 81% felt positive about the potential impact of risk-stratified screening towards patients and 62% felt positive about the potential impact on their practice. GPs selected training of healthcare professionals as the priority for future risk-stratified screening implementation, preferring online formats for learning. The results suggest limited knowledge of PRS and risk-stratified screening amongst GPs. Training—preferably using online learning formats—was identified as the top priority for future implementation. GPs felt positive about the potential impact of risk-stratified screening; however, there was hesitance and disagreement towards a low-risk screening pathway. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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14 pages, 562 KiB  
Article
Public Health Genetics: Surveying Preparedness for the Next Generation of Public Health Professionals
by Anastasia M. Jacko, Andrea L. Durst, Karen L. Niemchick, Stephen M. Modell and Amy H. Ponte
Genes 2023, 14(2), 317; https://doi.org/10.3390/genes14020317 - 26 Jan 2023
Cited by 1 | Viewed by 1470
Abstract
Since the Human Genome Project’s completion in 2003, the need for increased population genetic literacy has grown exponentially. To address this need, public health professionals must be educated appropriately to serve the public best. This study examines the current state of public health [...] Read more.
Since the Human Genome Project’s completion in 2003, the need for increased population genetic literacy has grown exponentially. To address this need, public health professionals must be educated appropriately to serve the public best. This study examines the current state of public health genetics education within existing master of public health (MPH) programs. A total of 171 MPH Council on Education for Public Health Accreditation (CEPH)-accredited programs across the nation were identified via a preliminary internet search. The American Public Health Association (APHA) Genomics Forum Policy Committee created 14 survey questions to assess the current status of incorporating genetics/genomics education within MPH programs. Using the Qualtrics survey system through the University of Pittsburgh, a link to the anonymous survey was sent to each director’s email address obtained from their program’s website. There were 41 survey responses, with 37 finished to completion, for a response rate of 21.6% (37/171). A total of 75.7% (28/37) of respondents reported having courses containing genetics/genomics information in their programs’ coursework. Only 12.6% reported such coursework to be required for program completion. Commonly listed barriers to incorporating genetics/genomics include limited faculty knowledge and lack of space in existing courses and programs. Survey results revealed the incongruous and limited incorporation of genetics/genomics within the context of graduate-level public health education. While most recorded programs report offering public health genetics coursework, the extent and requirement of such instruction are not considered necessary for program completion, thereby potentially limiting the genetic literacy of the current pool of public health professionals. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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22 pages, 3716 KiB  
Article
A Comparative Cross-Platform Analysis to Identify Potential Biomarker Genes for Evaluation of Teratozoospermia and Azoospermia
by Suchismita Das, Pokhraj Guha, Monika Nath, Sandipan Das, Surojit Sen, Jagajjit Sahu, Marta Kopanska, Sulagna Dutta, Qazi Mohammad Sajid Jamal, Kavindra Kumar Kesari, Pallav Sengupta, Petr Slama and Shubhadeep Roychoudhury
Genes 2022, 13(10), 1721; https://doi.org/10.3390/genes13101721 - 25 Sep 2022
Cited by 1 | Viewed by 2524
Abstract
Male infertility is a global public health concern. Teratozoospermia is a qualitative anomaly of spermatozoa morphology, contributing significantly to male infertility, whereas azoospermia is the complete absence of spermatozoa in the ejaculate. Thus, there is a serious need for unveiling the common origin [...] Read more.
Male infertility is a global public health concern. Teratozoospermia is a qualitative anomaly of spermatozoa morphology, contributing significantly to male infertility, whereas azoospermia is the complete absence of spermatozoa in the ejaculate. Thus, there is a serious need for unveiling the common origin and/or connection between both of these diseases, if any. This study aims to identify common potential biomarker genes of these two diseases via an in silico approach using a meta-analysis of microarray data. In this study, a differential expression analysis of genes was performed on four publicly available RNA microarray datasets, two each from teratozoospermia (GSE6872 and GSE6967) and azoospermia (GSE145467 and GSE25518). From the analysis, 118 DEGs were found to be common to teratozoospermia and azoospermia, and, interestingly, sperm autoantigenic protein 17 (SPA17) was found to possess the highest fold change value among all the DEGs (9.471), while coiled-coil domain-containing 90B (CCDC90B) and coiled-coil domain-containing 91 (CCDC91) genes were found to be common among three of analyses, i.e., Network Analyst, ExAtlas, and GEO2R. This observation indicates that SPA17, CCDC90B, and CCDC91 genes might have significant roles to play as potential biomarkers for teratozoospermia and azoospermia. Thus, our study opens a new window of research in this area and can provide an important theoretical basis for the diagnosis and treatment of both these diseases. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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11 pages, 640 KiB  
Article
Factors Influencing Family Health History Collection among Young Adults: A Structural Equation Modeling
by Ming Li, Shixi Zhao, Yu-Yu Hsiao, Oi-Man Kwok, Tung-Sung Tseng and Lei-Shih Chen
Genes 2022, 13(4), 612; https://doi.org/10.3390/genes13040612 - 29 Mar 2022
Cited by 2 | Viewed by 3365
Abstract
Family health history (FHH) can serve as an entry point for preventive medicine by providing risk estimations for many common health conditions. College is a critical time for young adults to begin to understand the value of FHH collection, and to establish healthy [...] Read more.
Family health history (FHH) can serve as an entry point for preventive medicine by providing risk estimations for many common health conditions. College is a critical time for young adults to begin to understand the value of FHH collection, and to establish healthy behaviors to prevent FHH-related diseases. This study seeks to develop an integrated theoretical framework to examine FHH collection behavior and associated factors among college students. A sample of 2670 college students with an average age of 21.1 years completed a web-based survey. Less than half (49.8%) reported actively seeking FHH information from their family members. Respondents’ knowledge about FHH were generally low. Structural equation modeling findings suggested an adequate model fit between our survey data and the proposed integrated theoretical framework. Respondents who were members of racial/ethnic minority groups exhibited higher levels of anxiety and intention to obtain FHH information but had lower confidence in their ability to gather FHH information than non-Hispanic White respondents. Therefore, educational programs designed to enhance the level of young adults’ FHH knowledge, efficacy, and behavior in FHH collection, and change subjective norms are critically needed in the future, especially for these who are members of racial/ethnic minority groups. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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14 pages, 3171 KiB  
Article
Expression of HK2, PKM2, and PFKM Is Associated with Metastasis and Late Disease Onset in Breast Cancer Patients
by Mehreen Ishfaq, Nabiha Bashir, Syeda Kiran Riaz, Shumaila Manzoor, Jahangir Sarwar Khan, Yamin Bibi, Rokayya Sami, Amani H. Aljahani, Saif A. Alharthy and Ramla Shahid
Genes 2022, 13(3), 549; https://doi.org/10.3390/genes13030549 - 20 Mar 2022
Cited by 13 | Viewed by 3268
Abstract
The reprogramming of energy metabolism is one of the hallmarks of cancer and is crucial for tumor progression. Altered aerobic glycolysis is a well-known characteristic of cancer cell metabolism. In the present study, the expression profiles of key metabolic genes (HK2, [...] Read more.
The reprogramming of energy metabolism is one of the hallmarks of cancer and is crucial for tumor progression. Altered aerobic glycolysis is a well-known characteristic of cancer cell metabolism. In the present study, the expression profiles of key metabolic genes (HK2, PFKM, and PKM2) were assessed in the breast cancer cohort of Pakistan using quantitative polymerase chain reaction (qPCR) and IHC. Expression patterns were correlated with molecular subtypes and clinical parameters in the patients. A significant upregulation of key glycolytic genes was observed in tumor samples in comparison to their adjacent controls (p < 0.0001). The expression of the studied glycolytic genes was significantly increased in late clinical stages, positive nodal involvement, and distant metastasis (p < 0.05). HK2 and PKM2 were found to be upregulated in luminal B, whereas PFKM was overexpressed in the luminal A subtype of breast cancer. The genes were positively correlated with the proliferation marker Ki67 (p < 0.001). Moreover, moderate positive linear correlations between HK2 and PKM2 (r = 0.476), HK2 and PFKM (r = 0.473), and PKM2 and PFKM (r = 0.501) were also observed (p < 0.01). These findings validate that the key regulatory genes in glycolysis can serve as potential biomarkers and/or molecular targets for breast cancer management. However, the clinical significance of these molecules needs to be further validated through in vitro and in vivo experiments. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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12 pages, 943 KiB  
Article
Citizens’ Literacy in Genomics: A Delphi Survey of Multidisciplinary Experts in the Field
by Giovanna Elisa Calabrò, Michele Sassano and Stefania Boccia
Genes 2022, 13(3), 498; https://doi.org/10.3390/genes13030498 - 11 Mar 2022
Cited by 3 | Viewed by 1874
Abstract
Introduction: Citizens’ literacy in the field of genomics represents one of the cornerstones of proper implementation of genomics in healthcare services. In order to identify the most effective tools by which to elevate citizens’ literacy in genomics, we conducted a survey among the [...] Read more.
Introduction: Citizens’ literacy in the field of genomics represents one of the cornerstones of proper implementation of genomics in healthcare services. In order to identify the most effective tools by which to elevate citizens’ literacy in genomics, we conducted a survey among the group of multidisciplinary experts within the Italian Network of Genomics in Public Health (GENISAP). Methods. Two rounds of Delphi surveys were carried out in order to identify the main topics, tools, settings, and healthcare professionals’ backgrounds that might usefully be included in citizens’ training initiatives in genomics. To this end, we distributed a questionnaire with 39 items that are scored on a 5-point scale. Results. By the end of the Delphi process, 43 items were selected (19 for the topics, 6 for the tools, 9 for settings, and 9 for the healthcare professionals’ backgrounds). Genomic tests and counseling were among the main topics included, while in terms of tools, face-to-face discussion with healthcare professionals was prioritized by the experts. Among the most appropriate platforms, the group suggested internet/social media and healthcare settings. The healthcare professional considered to have the most relevant role in terms of citizens’ education was a medical doctor with a specialism in clinical genetics. Discussion. Our study attempted to identify the main characteristics that could guide the design of interventions to promote public literacy regarding the field of genomics. Specifically, we have identified the main topics to be included in an educational program for citizens, the tools and settings to consider when providing educational initiatives on genomics, and the healthcare professionals who need to be involved in these initiatives. Therefore, the results of our study provide the necessary basis for the realization of new training initiatives on genomics to be proposed and offered to citizens, these initiatives to be implemented at a national and international level for achieving the transformational change in health systems that is required by the precision health approach. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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21 pages, 511 KiB  
Article
A Web Screening on Training Initiatives in Cancer Genomics for Healthcare Professionals
by Ilda Hoxhaj, Flavia Beccia, Giovanna Elisa Calabrò and Stefania Boccia
Genes 2022, 13(3), 430; https://doi.org/10.3390/genes13030430 - 26 Feb 2022
Cited by 3 | Viewed by 2194
Abstract
The disruptive advances in genomics contributed to achieve higher levels of precision in the diagnosis and treatment of cancer. This scientific advance entails the need for greater literacy for all healthcare professionals. Our study summarizes the training initiatives conducted worldwide in cancer genomics [...] Read more.
The disruptive advances in genomics contributed to achieve higher levels of precision in the diagnosis and treatment of cancer. This scientific advance entails the need for greater literacy for all healthcare professionals. Our study summarizes the training initiatives conducted worldwide in cancer genomics field for healthcare professionals. We conducted a web search of the training initiatives aimed at improving healthcare professionals’ literacy in cancer genomics undertaken worldwide by using two search engines (Google and Bing) in English language and conducted from 2003 to 2021. A total of 85,649 initiatives were identified. After the screening process, 36 items were included. The majority of training programs were organized in the United States (47%) and in the United Kingdom (28%). Most of the initiatives were conducted in the last five years (83%) by universities (30%) and as web-based modalities (80%). In front of the technological advances in genomics, education in cancer genomics remains fundamental. Our results may contribute to provide an update on the development of educational programs to build a skilled and appropriately trained genomics health workforce in the future. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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11 pages, 283 KiB  
Article
Knowledge and Attitudes toward Genetic Testing for Autism Spectrum Disorders among Parents of Affected Children in Taiwan
by Ming Li, Shi-Xi Zhao, Wei-Ju Chen, Tse-Yang Huang and Lei-Shih Chen
Genes 2022, 13(2), 239; https://doi.org/10.3390/genes13020239 - 27 Jan 2022
Cited by 6 | Viewed by 3981
Abstract
The prevalence of autism spectrum disorders (ASD) in Taiwan has been increasing, and genetic testing for ASD has been available and provided to parents of children diagnosed with ASD in Taiwan. However, there is still limited understanding of Taiwanese parents’ knowledge of and [...] Read more.
The prevalence of autism spectrum disorders (ASD) in Taiwan has been increasing, and genetic testing for ASD has been available and provided to parents of children diagnosed with ASD in Taiwan. However, there is still limited understanding of Taiwanese parents’ knowledge of and attitudes toward such testing. Therefore, the present study addressed this gap by assessing the attitudes toward as well as actual and perceived knowledge of ASD genetic testing among Taiwanese parents of children diagnosed with ASD. A sample of 443 parents of children with ASD recruited from 236 public schools in Taiwan completed a paper-and-pencil survey. Although parents generally held favorable attitudes toward ASD genetic testing, they had deficient knowledge of such test (with only a 31.4% average correct rate on the actual knowledge scale). Tailored health education materials should be developed to improve the knowledge of ASD genetic testing among parents with affected children in Taiwan. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)

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8 pages, 1422 KiB  
Opinion
Measuring Exercise-Induced Secreted Protein Acidic and Rich in Cysteine Expression as a Molecular Tool to Optimize Personalized Medicine
by Abdelaziz Ghanemi, Mayumi Yoshioka and Jonny St-Amand
Genes 2021, 12(11), 1832; https://doi.org/10.3390/genes12111832 - 20 Nov 2021
Cited by 11 | Viewed by 2001
Abstract
The numerous exercise benefits for health as well as applications for diseases has lead to exercise being prescribed in many pathological conditions. Secreted protein acidic and rich in cysteine (SPARC) gene expression is stimulated by exercise and SPARC has been suggested as a [...] Read more.
The numerous exercise benefits for health as well as applications for diseases has lead to exercise being prescribed in many pathological conditions. Secreted protein acidic and rich in cysteine (SPARC) gene expression is stimulated by exercise and SPARC has been suggested as a molecular mediator of exercise. Therefore, we suggest using this property for personalized medicine. This can be achieved by prescribing the exercise with a pattern (duration, intensity, etc.) that corresponds to the optimum SPARC/Sparc expression. We expect this approach to optimize the exercise therapy in both the preventive and curative contexts. In the research field, measuring exercise -dependent expression of Sparc would represent a molecular tool to further optimize the selection of exercise animal models as well. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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5 pages, 431 KiB  
Opinion
Trefoil Factor Family Member 2 Expression as an Indicator of the Severity of the High-Fat Diet-Induced Obesity
by Abdelaziz Ghanemi, Mayumi Yoshioka and Jonny St-Amand
Genes 2021, 12(10), 1505; https://doi.org/10.3390/genes12101505 - 26 Sep 2021
Cited by 5 | Viewed by 2243
Abstract
Trefoil Factor Family Member 2 (TFF2) belongs to TFF family peptides that includes TFF1, TFF2, TFF3. TFF2 is mainly known for its roles in the mucosal protection. In the context of obesity and high fat diet (HFD), Tff2 has been characterized as a [...] Read more.
Trefoil Factor Family Member 2 (TFF2) belongs to TFF family peptides that includes TFF1, TFF2, TFF3. TFF2 is mainly known for its roles in the mucosal protection. In the context of obesity and high fat diet (HFD), Tff2 has been characterized as a HFD-induced gene. The knock-out of Tff2 in mice lead to the protection from HFD-induced obesity with a metabolic profile towards a negative energy balance. Such HFD-specific expression gives Tff2 a pattern worth exploring in biomedical research. Indeed, measuring TFF2/TFF2/Tff2 expression in biological samples following the ingestion of high-fat diet reflects the biological “responsiveness” to the lipids ingestion and would reflect the severity of obesity establishment afterwards. Such property could be explored for instance to screen animal models, evaluate the predisposition to HFD-induced obesity as well as in biomedical and clinical applications. Results might advance obesity research especially in terms of understanding lipid-induced signals, appetite control and adiposity storage. Full article
(This article belongs to the Special Issue Public Health Genetics and Genomics)
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