Application of Next-Generation Sequencing in the Era of Precision Medicine

Next-generation sequencing (NGS) technologies represented the next step in the evolution of DNA sequencing, through the generation of thousands to millions of DNA sequences in a short time. The relatively fast emergence and success of NGS in research revolutionized the field of genomics and medical diagnosis. The traditional medicine model of diagnosis has changed to one precision medicine model, leading to a more accurate diagnosis of human diseases and allowing the selection of molecular target drugs for individual treatment. This chapter attempts to review the main features of NGS technique (concepts, data analysis, applications, advances and challenges), starting with a brief history of DNA sequencing followed by a comprehensive description of most used NGS platforms. Further topics will highlight the application of NGS towards routine practice, including variant detection, whole-exome sequencing (WES), whole-genome sequencing (WGS), custom panels (multi-gene), RNA-seq and epigenetic. The potential use of NGS in precision medicine is vast and a better knowledge of this technique is necessary for an efficacious implementation in the clinical workplace. A centralized chapter describing the main NGS aspects in the clinic could help beginners, scientists, researchers and health care professionals, as they will be responsible for translating genomic data into genomic medicine

LABRAD : Vol 46, Issue 4 - October 2021

Role of Barcoding in a Clinical Laboratory to Reduce Pre-Analytical Errors Congenital Dyserythropoietic Anemia: The Morphological Diagnosis Digital Imaging in Hematology: A New Beginning Metabolomics: Identification of Fatty Acid Oxidation (FAO) Disorders Next-Generation Sequencing for HLA Genotyping Urine Metabolomics to identify Organic Academia Next-Generation Sequencing (NGS) of Solid Tumor Importance of using Genomic Tool in Microbial Identification Radiology Practice in 21st Century: Role of Artificial Intelligence Case Quiz Best of the Recent Past Polaroidhttps://ecommons.aku.edu/labrad/1036/thumbnail.jp

Design Thinking In Pharmacy Education: Inspiring Creative Problem Solving in the Next Generation of Pharmacists

Born from the world of product and service innovation, design thinking is gaining popularity as a method for introducing creative problem solving into the education of health professionals. Mindsets developed through practicing design thinking can help learners and educators address complex healthcare issues in a whole new way. This article aims to introduce the concepts of design thinking to the pharmacy educator, give examples of its use in pharmacy education, and discuss the value of including it in pharmacy education from both an educator and a student’s perspective.   Topic: Commentary &nbsp

Digital Health in Canadian Schools of Nursing—Part B: Academic Nurse Administrators’ Perspectives

While much progress has been achieved in advancing nursing informatics capacity in Canada, more work is needed to keep pace with the 21st century technological revolution. Nursing programs and educators are at the forefront of this change, and are key to ensuring successful integration of digital health and informatics in nursing education and practice. In 2018, a mixed methods study was conducted including a survey of nursing school administrators and nurse educators, telephone interviews, and one focus group meeting. The purpose of this research was to understand the current state of digital health and informatics content integration in nursing curricula within Canadian Schools of Nursing. In this paper, we report on findings representing the academic nurse administrators’ perspectives; nurse educator findings have been published separately (AUTHOR, 2020). Administrator respondents represented fewer than a third of Canadian schools of nursing, however findings indicate an appreciation of the importance of including digital health and informatics content in undergraduate curricula. There is some awareness of both CASN’s entry to practice informatics competencies and other related resources. Findings also suggest a willingness to provide the support needed for nurse educators to effectively address curricular integration. There was some difference of opinion when comparing educator and administrator perspectives. Variation was most evident when considering progress achieved to date. Findings also suggest administrators play a key role in assisting educators in overcoming barriers and advancing their informatics capacity to teach core digital health content. Digital heath integration is largely incumbent upon the leadership within schools of nursing as they are ideally positioned to provide the necessary vision and support. Some recommended tactics to address curricular integration are provided. Bien que de nombreux progrès aient été réalisés au niveau des aptitudes des infirmières en informatique au Canada, il reste encore du travail à faire pour suivre le rythme de la révolution technologique du 21e siècle. Les programmes de formation en sciences infirmières et les infirmières enseignantes se trouvent au premier plan de ce changement et sont essentiels pour assurer une intégration réussie de la santé numérique et de l’informatique dans la formation et la pratique infirmières. En 2018, une étude à devis mixte a été menée, comprenant un sondage auprès des gestionnaires académiques d’écoles de sciences infirmières et des infirmières enseignantes, des entrevues téléphoniques et une rencontre de groupe de discussion. Le but de cette recherche était de comprendre l’état actuel de l’intégration du contenu de la santé numérique et de l’informatique dans les programmes de formation des écoles canadiennes de sciences infirmières. Dans cet article, nous rendons compte des résultats représentant les points de vue des infirmières gestionnaires universitaires; les résultats des infirmières enseignantes ont été publiés séparément (AUTEUR, 2020). Les gestionnaires académiques répondantes représentaient moins du tiers des écoles canadiennes de sciences infirmières. Par ailleurs les résultats indiquent que ces répondantes jugent important d’inclure du contenu traitant de la santé numérique et de l’informatique dans les programmes d’études de premier cycle. I Les compétences en informatique pour accéder à la pratique et d’autres ressources connexes de l’ACESI étaient connues jusqu’à un certain point. Les résultats suggèrent également une volonté de fournir le soutien nécessaire aux infirmières enseignantes pour une intégration efficace dans les programmes d’études. Les points de vue des enseignantes et des gestionnaires académiques varient; la divergence la plus évidente concerne les progrès réalisés à ce jour. Les résultats suggèrent également que les gestionnaires jouent un rôle clé en aidant les enseignantes à surmonter les obstacles et à faire progresser leur capacité informatique à enseigner le contenu essentiel sur la santé numérique. L’intégration de la santé numérique dans les programmes incombe en grande partie aux directions des écoles de sciences infirmières, car ces dernières sont très bien placées pour fournir la vision et le soutien nécessaires. Certaines stratégies recommandées pour aborder l’intégration dans les programmes d’études sont proposées

Exploring large language model for next generation of artificial intelligence in ophthalmology

In recent years, ophthalmology has advanced significantly, thanks to rapid progress in artificial intelligence (AI) technologies. Large language models (LLMs) like ChatGPT have emerged as powerful tools for natural language processing. This paper finally includes 108 studies, and explores LLMs’ potential in the next generation of AI in ophthalmology. The results encompass a diverse range of studies in the field of ophthalmology, highlighting the versatile applications of LLMs. Subfields encompass general ophthalmology, retinal diseases, anterior segment diseases, glaucoma, and ophthalmic plastics. Results show LLMs’ competence in generating informative and contextually relevant responses, potentially reducing diagnostic errors and improving patient outcomes. Overall, this study highlights LLMs’ promising role in shaping AI’s future in ophthalmology. By leveraging AI, ophthalmologists can access a wealth of information, enhance diagnostic accuracy, and provide better patient care. Despite challenges, continued AI advancements and ongoing research will pave the way for the next generation of AI-assisted ophthalmic practices

Advancing Ehealth Education for the Clinical Health Professions

This is the final report of a project that aimed to encourage and support program coordinators and directors of Australian undergraduate and postgraduate coursework programs in all allied health, nursing and medical professions to address the need for Ehealth education for entry-level clinical health professionals