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Applied genomics and public health / George P. Patrinos -- From genetic epidemiology to exposome and systems epidemiology / Nicole Probst-Hensch -- Rare diseases: genomics and public health / Gabriela M. Repetto and Boris Rebolledo-Jaramillo -- Applied genomics and public health cancer genomics / Pierluigi Porcu, Gaurav Kumar, Nitin Chakravarti, Neeraj Arora, Anjali Mishra, Adam Binder, Adam Ertel and Paolo Fortina -- Genomic basis of psychiatric illnesses and response to psychiatric drug treatment modalities / Evangelia-Eirini Tsermpini, Maria Skokou, Zoe Kordou and George P. Patrinos -- Pharmacogenomics in clinical care: implications for public health / George P. Patrinos, Asimina Andritsou, Konstantina Chalikiopoulou, Effrosyni Mendrinou and Evangelia-Eirini Tsermpini -- Microbial genomics in public health: a translational risk-response aspect / Manousos E. Kambouris, Yiannis Manoussopoulos, George P. Patrinos and Aristea Velegraki -- Genome informatics pipelines and genome browsers / Evaggelia Barba, Evangelia-Eirini Tsermpini, George P. Patrinos and Maria Koromina -- Translational tools and databases in genomic medicine / Evaggelia Barba, Maria Koromina, Evangelia-Eirini Tsermpini and George P. Patrinos -- Genetic testing / Kariofyllis Karamperis, Sam Wadge, Maria Koromina and George P. Patrinos -- Assessing the stakeholder landscape and stance point on genomic and personalized medicine / Christina Mitropoulou, Konstantina Politopoulou, Athanassios Vozikis and George P. Patrinos -- Health-care professionals' awareness and understanding of genomics / Konstantina Papaioannou and Kostas Kampourakis -- "Genetics" and public health genomics / Emilia Niemiec and Heidi Carmen Howard -- Legal aspects of genomic and personalized medicine / Zoe Kordou, Stavroula Siamoglou and George P. Patrinos -- Genomics, the internet of things, artificial intelligence, and society / Vural Özdemir -- Economic evaluation of genomic and personalized medicine interventions: implications in public health / Vassileios Fragoulakis, George P. Patrinos and Christina Mitropoulou -- Pricing, budget allocation, and reimbursement of personalized medicine interventions / Christina Mitropoulou, Vassileios Fragoulakis, Athanassios Vozikis and George P. Patrinos -- Genetic counseling / Janet L. Williams -- Defining genetic-testing delivery and promotional strategies for personalized medicine / Christina Mitropoulou, Despina Giannouri, Kariofyllis Karamperis, Sam Wadge and George P. Patrinos -- Regulatory aspects of genomic medicine and pharmacogenomics / Konstantinos Ghirtis -- Genomic medicine in emerging economies / Catalina Lopez Correa.

Intro -- Economic Evaluation in Genomic and Precision Medicine -- Copyright -- Contents -- Contributors -- Preface -- Chapter 1: Introduction to economic evaluation in health sciences -- 1.1. Introduction -- 1.2. Key economic concepts and terminology used in health economics -- 1.2.1. Budget constraints and demand -- 1.2.2. Utility -- 1.2.3. Indifference curves -- 1.2.4. Social welfare -- 1.3. Economic evaluation -- 1.3.1. Rationale for economic evaluation -- 1.3.2. Types of economic evaluation -- 1.3.2.1. The extra-welfarist approach to economic evaluation -- 1.3.2.2. The welfarist approach to economic evaluation -- 1.3.2.3. Welfarism versus extra-welfarism: Which approach should be used? -- 1.4. Concluding remarks -- References -- Chapter 2: Foundations of pharmacogenomics and personalized medicine -- 2.1. Introduction -- 2.2. Implementing pharmacogenomics into clinical care -- 2.2.1. Pharmacogenomics for cancer therapeutics -- 2.2.2. Pharmacogenomics for drug treatment of cardiovascular diseases -- 2.2.3. Pharmacogenomics for psychiatric diseases -- 2.3. Electronic tools for translating genomic findings into a clinically meaningful format -- 2.4. Assessing the ethical, societal, and financial aspects of personalized medicine -- 2.4.1. Ethical and legal issues -- 2.4.2. Raising genomics awareness among healthcare professionals and the general public -- 2.4.3. Economic evaluation of personalized medicine interventions -- 2.5. Large-scale personalized medicine implementation efforts worldwide -- 2.6. Conclusions and future perspectives -- Acknowledgments -- References -- Chapter 3: Economic evaluation of genome-guided treatment in oncology -- 3.1. Introduction -- 3.2. Methodological challenges -- 3.3. The inseparability of test and treatment -- 3.4. Value of testing -- 3.5. Cost-effectiveness comparator -- 3.6. Pricing and reimbursement.

In the post-genomic era, there is an increasing and urgent need for managing and visualizing big data. Data complexity and size will turn information growth into knowledge growth only if presented in a comprehensive and user-friendly way. In such a context, the information technology community collaborates in a multidisciplinary manner with other scientific fields searching for and/or developing tools and services for data management and visualization. We have previously developed DruGeVar, a comprehensive database that triangulates drugs with genes and pharmacogenomic biomarkers to serve clinical pharmacogenomics. To empower its functionality, we explored and implemented new visualization tools, such as POWER-BI (Microsoft), which allows for interactive visualization. Herein, we describe the synergy of POWER-BI and DruGeVar, focusing on cancer genomics data in light of translational pharmacogenomics.

Beginning in 2009, the advent of exome sequencing has contributed significantly towards new discoveries of heritable germline mutations and de novo mutations for rare Mendelian disorders with hitherto unknown genetic aetiologies. Exome sequencing is an efficient tool to identify disease mutations without the need of a multi-generational pedigree. Sequencing a single proband or multiple affected individuals has been shown to be successful in identifying disease mutations, but parents would be required in the case of de novo mutations. In addition to heritable germline and de novo mutations, exome sequencing has also succeeded in unravelling somatic driver mutations for a wide range of cancers through individual studies or international collaborative effort such as the Cancer Genome International Consortium. By contrast, the application of exome sequencing in complex diseases is relatively limited; probably it would be too expensive were it applied to thousands of samples to achieve the statistical power for rare or low frequency variants (<1%). On top of research discoveries, the application of exome sequencing as a diagnostic tool is also increasingly evident. In this article, we summarize and discuss the progress that has been made in these areas during almost a decade.

Economic evaluation in health care: evidence-based medicine and evidence-based health economics -- Genomic medicine today: an introduction for health economists -- Economic evaluation and genomic medicine: what can they learn from each other? -- Introduction to the technical issues of economic evaluation -- Advanced methodological aspects in the economic evaluation -- Economic evaluation in the genomic era: some examples from the field -- Special requirements for economic evaluation and health technology assessment in genomic medicine -- A new methodological approach for cost-effectiveness analysis in genomic medicine -- Conclusions and future perspectives

BACKGROUND: There is an increasing interest worldwide in investigating healthcare stakeholders' perceptions and intentions to adopt pharmacogenomics (PGx) into clinical practice. However, the existing inquiries based on well-established theories and models that interpret their intentions to implement PGx are scarce. This study is the first that examines the impact of selected factors on health science students' intention to adopt genetic testing applications using the technology acceptance model while it compares two different cultural groups: Greeks (Europe; Christian) and Malays (Asia; Muslim). RESULTS: Malay students were more persuaded about benefits of genomics for drug management compared to their Greek counterparts. However, participants from both countries appear to be particularly convinced about the benefits of genomics on disease management. Moreover, students from both countries considered the potential misuse of genetic information by corporate or government bodies as their most important concern; Greek students appeared to be considerably less worried than Malay about other probable hazards such as the deficient protection of privacy and confidentiality, which could be attributed to their religious background. Participants from both samples expressed very positive attitudes towards genetic research and testing and their favourable intentions to adopt genetic testing for personal use. Exploratory factors analysis and path analysis yielded quite similar results for both samples. Path analysis revealed that the factors of attitudes, concerns, drug management benefits and disease management benefits significantly influenced students' intentions to adopt genetic testing for personal use, with attitudes being the most inspirational factor with rather high impact, while training did not seem to affect participant's intentions. The squared multiple correlation of both models was quite satisfactory reaching to 0.55 for the Malaysian sample. CONCLUSION: Similarities in the results of the two groups along ...

Nutrigenomics is an important strand of precision medicine that examines the bidirectional interactions of the genome and nutritional exposures, and attendant health and disease outcomes. This perspectives article presents the new concept of "Nutrigenomics 2.0," so as to cultivate and catalyze the next generation research and funding priorities for responsible and sustainable knowledge-based innovations. We further contextualize our recent study of the 38 genes included in commercially available nutrigenomics tests, and offer additional context in relation to the 2014 American Academy of Nutrition and Dietetics position. Finally, we make a call in the best interest of the nutrigenomics science community, governments, global society, and commercial nutrigenomics test providers that new evidence evaluation and synthesis platforms are created concerning nutrigenomics tests before they become commercially available. The proposed assessment and synthesis of nutrigenomics data should be carried out on an ongoing dynamic basis with periodic intervals and/or when there is a specific demand for evidence synthesis, and importantly, in ways that are transparent where conflict of interests are disclosed fully by the involved parties, be they scientists, industry, governments, citizens, social scientists, or ethicists. We submit that this will cultivate responsible innovation, and business models that are sustainable, robust, and stand the test of time and context.

Acknowledgments: this work has been supported by institutional funding of the University of Malta, and the Malta Department of Health (AEF and JB), a fellowship of the Malta Government Scholarship Scheme (JB), European Commission grants(GEN2PHEN; FP7-200754 and ITHANET; FP6-026539) to GPP, and the Netherlands Genomics Initiative (NGI), Erasmus MC (MRace; 296088), the Landsteiner Foundation for Blood Transfusion Research (LSBR; 1040), and the Dutch organization for scientific research (NWO; DN 82-301 and 40-00812-98- 08032) to SP. We apologize to our colleagues whose work could not be cited due to space constraints. ; Erythroid Kruppel-Like Factor (KLF1; previously known as EKLF) is an essential erythroid-specific transcription factor that was first identified by Miller and Bieker in 1993. 1 It binds the CACCC motif, an important DNA binding site in the regulatory elements of many erythroid genes including the HBB (β-globin) gene. Mutations in the β-globin CACC box which prevent KLF1 binding are a cause of β-thalassemia. 2 KLF1 has three zinc finger domains, which mediate sequence specific binding to DNA and are, therefore, essential for activation of KLF1 target genes (Figure 1). ; peer-reviewed

<b><i>Background:</i></b> This article provides an overview of direct-to-consumer (DTC) genomic services that are currently available in Greece and the legal framework within which they operate. <b><i>Methods:</i></b> Here, we describe the landscape of the DTC genomic testing companies and laboratories by conducting a systematic &#x0399;nternet search for relevant websites. We examine the existing legal framework regarding genetic testing in Greece by a review of present regulation. Although Greece does not have explicit legal provisions for DTC genomics, several other laws, including soft law mechanisms, create the broader legal framework within which DTC genomic services may exist. <b><i>Results/Conclusions:</i></b> While the current legal framework creates a flexible environment that is conducive to DTC genomic operations, it is also ambiguous about the legality of some specific services. Given the growing DTC activity in Greece, we argue that it is important to both enforce compliance with existing law and clarify legal ambiguities that may risk limiting the power of legal protections that ought to be afforded to consumers.

Evidence of the value of pharmacogenomic testing is needed to inform policymakers and clinicians for decision making related to adoption and coverage, and to facilitate prioritization for research and development. Pharmacogenomics has an important role in creating a more efficient healthcare system, and this article addresses how economic evaluation can strategically target evidence gaps for public health priorities with examples from pharmacogenomic medicine. This article begins with a review of the need for and use of economic evaluations in value-based decision making for pharmacogenomic testing. Three important gaps are described with examples demonstrating how they can be addressed: (1) projected impact of hypothetical new technology, (2) pre-implementation assessment of a specific technology, and (3) post-implementation assessment from relevant analytical stakeholder perspectives. Additional needs, challenges and approaches specific to pharmacogenomic economic evaluation in the developing world are also identified. These pragmatic approaches can provide much needed evidence to support real-world value-based decision making for pharmacogenomic-based screening and treatment strategies.

Interindividual variability is yet to be fully characterized, and for this, optimum patient stratification and companion diagnostics are still lacking. Especially when complex disease phenotypes and/or polygenic diseases are considered, patient monitoring and disease management become rather challenging, while acquired resistance to therapy and/or toxicity events are among the unmet needs in the clinic. No doubt, biomarkers are of great importance to disease management and tailor-made theranostics. Microfluidics has gathered great attention lately, mostly due to its low-invasive nature compared to tissue biopsies. Low invasiveness becomes greatly advantageous for microfluidics practices as the latter mirror cell biology revolutionizing cancer diagnostics and management. Recent advances in microfluidics hold the promise of robust clinical diagnostics after they have demonstrated effective exosome separation. We feel that microfluidics-based exosome isolation techniques, if cost-effective, could be implemented in the clinic and/or resource-scarce settings. This article (a) discusses exosomes, (b) comments on the first microfluidic advances in the field of cancer theranostics, (c) presents such advances in exosomes as complementary to liquid biopsies with an emphasis on circulating tumor cells, and (d) proposes a road map for future developments.

The big-data revolution is creating a challenge for the provision of services in the health sector to keep pace with the expectations of the general population. Utilization of crowdsourcing can impact positively on the quality, cost and speed of healthcare by involving large sections of professionals and the public and creating novel science within an ethical framework. In 2007, the DYSCERNE project was funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (submitting nodes), in 26 different European countries. DYSCERNE utilized the process of crowdsourcing international expertise for the clinical diagnosis of very rare genetic syndromes of multiple congenital anomalies. This is the first reported account of collaborative crowd sourcing in dysmorphology, as part of a clinical genetics service.