Genetics and Genomics Education: The Path from Helix to Health

2014 ◽  
pp. 242-249
Author(s):  
Reed E. Pyeritz
Keyword(s):  
Genetics And Genomics ◽  
Genomics Education

scholarly journals Nursing Genetics and Genomics Education in Indonesia: Philosophy and Ethics Study (a Hermeneutics Approach)

2021 ◽  
pp. 857-869
Author(s):  
Karolus Yosef Woitila Wangi ◽  
Innama Sakinah ◽  
Dewi Andariya Ningsih ◽  
Noviana Vanawati ◽  
Dian Adiningsih ◽  
...  
Keyword(s):  
Nursing Education ◽  
Secondary Data ◽  
Health Issues ◽  
Higher Education Curriculum ◽  
Nursing Science ◽  
Heideggerian Hermeneutics ◽  
Genetics And Genomics ◽  
Scientific Truth ◽  
Keywords Education ◽  
Genomics Education

This study was conducted to provide a philosophical and ethical description of the development of genetics and genomics nursing science and the importance of its incorporation into nursing education in Indonesia. Researchers have adopted five of the seven steps of the Heideggerian hermeneutics. All data has been obtained from literature research. The qualitative analysis of secondary data has applied the data analysis. The Coherence theory of truth criteria has been applied to maintain the consistency of scientific truth. The consistent statement system has used the principle of logic as a guide to interpreting the facts and opinions of others adequately. Nursing genetics and genomics is an ethical, philosophical product of nursing science development and a new scope of science as an adaptation to global health issues. The areas of science in nursing need to be developed further by placing genetics and genomics issues that can be adapted into the curriculum of the nursing higher education curriculum in Indonesia.   Keywords: Education; Ethics; Genetics; Genomics; Philosophy

Genomics Education in Nursing in the United States

2011 ◽  
Vol 29 (1) ◽  
pp. 151-172 ◽  
Author(s):  
Kathleen A. Calzone ◽  
Jean Jenkins
Keyword(s):  
United States ◽  
Health Care ◽  
Nursing Education ◽  
The United States ◽  
Current Evidence ◽  
Outcome Indicators ◽  
Genetics And Genomics ◽  
Therapeutic Decision Making ◽  
Genomics Education ◽  
Science Information

Discovery of the genetics/genomics underpinnings of health, risk for disease, sickness, and treatment response have the prospects of improving recognition and management of at risk individuals; improving screening, prognostics, and therapeutic decision-making; expanding targeted therapies; and improving the accuracy of medication dosing and selection based on drug metabolism genetic variation. Thus, genetics/genomics science, information, and technologies infl uence the entire health care continuum and are fundamental to the nursing profession. Translating the benefi ts of genetics and genomics into health care requires that nurses are knowledgeable about and able to integrate this information and technology into their practice. This chapter explores the development of essential nursing competences in genetics and genomics and outcome indicators. Included is an overview of projects aimed at measuring and/or supporting adoption and integration of such competencies. Included as well is an update reviewing current evidence of the state of genomics nursing education in the United States and recommendations for next steps.

scholarly journals Medical genetics and genomics education: how do we define success? Where do we focus our resources?

2017 ◽  
Vol 19 (7) ◽  
pp. 751-753 ◽  
Author(s):  
Robin L Bennett ◽  
Darrel Waggoner ◽  
Miriam G Blitzer
Keyword(s):  
Medical Genetics ◽  
Genetics And Genomics ◽  
Genomics Education

Kindler's Syndrome with Recurrent Neutropenia: Report of Two Cases from Saudi Arabia

2020 ◽  
Author(s):  
Yousef Binamer ◽  
Muzamil A. Chisti
Keyword(s):  
Autosomal Recessive ◽  
Common Mechanism ◽  
Sequencing Analysis ◽  
Loss Of Function ◽  
Skin Atrophy ◽  
Whole Exome ◽  
Infancy And Childhood ◽  
Genetics And Genomics ◽  
New Feature ◽  
Generation Sequencing

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.

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