scholarly journals Improving interpretation of genetic testing for hereditary hemorrhagic, thrombotic, and platelet disorders

Hematology ◽  
2020 ◽  
Vol 2020 (1) ◽  
pp. 76-81
Author(s):  
Michele P Lambert
Keyword(s):  
Genetic Testing ◽  
Conflicting Information ◽  
New Information ◽  
National Human ◽  
Disease Associations ◽  
Uncertain Significance ◽  
Platelet Disorders ◽  
American Society ◽  
Serious Disease

Abstract The last 10 years have seen an explosion in the amount of data available through next-generation sequencing. These data are advancing quickly, and this pace makes it difficult for most practitioners to easily keep up with all of the new information. Complicating this understanding is sometimes conflicting information about variant pathogenicity or even about the role of some genes in the pathogenesis of disease. The more widespread clinical use of sequencing has expanded phenotypes, including the identification of mild phenotypes associated with previously serious disease, such as with some variants in RUNX1, MYH9, ITG2A, and others. Several organizations have taken up the task of cataloging and systematically evaluating genes and variants using a standardized approach and making the data publicly available so that others can benefit from their gene/variant curation. The efforts in testing for hereditary hemorrhagic, thrombotic, and platelet disorders have been led by the International Society on Thrombosis and Haemostasis Scientific Standardization Committee on Genomics in Thrombosis and Hemostasis, the American Society of Hematology, and the National Institutes of Health National Human Genome Research Institute Clinical Genome Resource. This article outlines current efforts to improve the interpretation of genetic testing and the role of standardizing and disseminating information. By assessing the strength of gene–disease associations, standardizing variant curation guidelines, sharing genomic data among expert members, and incorporating data from existing disease databases, the number of variants of uncertain significance will decrease, thereby improving the value of genetic testing as a diagnostic tool.

Resource document for curriculum development in cancer genetics education. American Society of Clinical Oncology.

1997 ◽  
Vol 15 (5) ◽  
pp. 2157-2169 ◽  
Keyword(s):  
Genetic Testing ◽  
Clinical Oncology ◽  
Social Issues ◽  
Cancer Genetics ◽  
Cancer Predisposition ◽  
Genetics Education ◽  
Formal Instruction ◽  
Curriculum Guidelines ◽  
American Society

PURPOSE The rapid growth in the use of genetic testing for heritable cancers and other diseases has led to the establishment of many committees to assess the status and future implications of such testing. The American Society of Clinical Oncology (ASCO) published a statement on genetic testing for cancer susceptibility in May 1996. In that statement, ASCO recognized the need for a major initiative to develop courses and other educational materials for ASCO members and other health care professionals that were pertinent to cancer genetics and the role of cancer predisposition testing in clinical oncology. These curriculum guidelines represent an effort to promote formal instruction on the assessment and management of familial cancer risks in training programs and continuing education courses. DESIGN AND RESULTS An Ad hoc Task Force was created from the ASCO membership and other professional organizations. Goals of ASCO's cancer genetics education initiative, curriculum guidelines, and plans for implementation of the curriculum have been developed. To gain understanding and competency in cancer genetics and cancer predisposition testing, the curriculum emphasizes formal instruction in: (1) basic concepts and principles of genetics; (2) an understanding of the role of genetics in the etiology, diagnosis, and management of different malignancies; (3) an understanding of the ethical, legal, and social issues that surround predisposition testing; and (4) long-term management plans for individuals at high risk for cancer. This document is broad in scope and applicable to all types of malignancies. It should be considered as the framework around which cancer genetics education is developed. It is expected that implementation of training activities over the next few years will allow ASCO to fulfill its obligations to the membership. CONCLUSION This curriculum should prove a valuable guide to those who wish further education on cancer genetics and the appropriate use of cancer predisposition testing.

The Kenya National Commission on Human Rights under the 2010 Constitutional Dispensation

2018 ◽  
Vol 26 (2) ◽  
pp. 205-226
Author(s):  
Bonolo Ramadi Dinokopila ◽  
Rhoda Igweta Murangiri
Keyword(s):  
Human Rights ◽  
Transitional Justice ◽  
National Commission ◽  
Bill Of Rights ◽  
Institutional Perspective ◽  
Post Conflict ◽  
National Human ◽  
The Status ◽  
Protection Of Human Rights

This article examines the transformation of the Kenya National Commission on Human Rights (KNCHR) and discusses the implications of such transformation on the promotion and protection of human rights in Kenya. The article is an exposition of the powers of the Commission and their importance to the realisation of the Bill of Rights under the 2010 Kenyan Constitution. This is done from a normative and institutional perspective with particular emphasis on the extent to which the UN Principles Relating to the Status of National Institutions for the promotion and protection of human rights (the Paris Principles, 1993) have been complied with. The article highlights the role of national human rights commissions in transformative and/or transitional justice in post-conflict Kenya. It also explores the possible complementary relationship(s) between the KNCHR and other Article 59 Commissions for the better enforcement of the bill of rights.

BOOK PUBLISHING IN UKRAINE: THE FACTORS OF EVELOP

2016 ◽  
Author(s):  
Victor Shpak
Keyword(s):  
Information Society ◽  
Publishing Industry ◽  
Book Industry ◽  
Book Publishing ◽  
Advanced Technology ◽  
Information Space ◽  
New Information ◽  
Information And Communication ◽  
National Information

This article is devoted to analysis of the modern problems of book publishing in the context of national information space. Development of the Ukrainian state is impossible without development of national book publishing, which is a part of its information space. In Ukraine, as one of the post-Soviet states, the formation of new information and communication system is based on its own information tradition, mentality and features of spiritual culture of the Ukrainians. It plays an important role in shaping culture, spirituality, comprehensive vision and consciousness of the nation. They were and they are a source of knowledge and the most effective way of its transfer. The transience of processes occurring the era of information society, radical socio-economic reforms, sectoral technological revolution requires the continuous scientific researches and analysis, identifying the trends in publishing industry as one of the most important factors in the state’s democratic progress. The author summarizes the development of book publishing of Ukraine and shows its role and place in the modern information society. The study of the modern book publishing is impossible without digression into the past, without finding out the roots of studying of the analysis object. The specific problems of the book industry are identified. It is concluded that in the modern Ukraine the publishing business has intensified, although the positive changes are taking place very slowly: the appropriate economic conditions for development of the publishing industry have not been created, the equipment are outdated; editorial, publishing and printing equipment of domestic manufacture are nonavailable; introduction of advanced technology are low; purchasing ability of the population is low; the sales network of printed products has been destroyed and so on. The businesses are becoming increasingly uneconomical. We propose some measures to improve this situation, strengthening the role of industry in the national information space. The key to improve the situation may be systematic and persistent efforts of the Ukrainian government to support the industry.The reason is that a comprehensive study requires from the performers not only historical knowledge, but also economic, managerial, psychological, political efforts and so on. The most important thing that the society and the state should need is the component of doctrine of information security in the context of the national security

scholarly journals Secondary Data Usage in Direct-to-Consumer Genetic Testing: To What Extent Are Customers Aware and Concerned?

2021 ◽  
pp. 1-8
Author(s):  
Janessa Mladucky ◽  
Bonnie Baty ◽  
Jeffrey Botkin ◽  
Rebecca Anderson
Keyword(s):  
Genetic Testing ◽  
Secondary Data ◽  
Structured Interviews ◽  
Customer Data ◽  
Secondary Use ◽  
Data Usage ◽  
Direct To Consumer ◽  
New Information ◽  
Opt Out ◽  
Potential Risks

Introduction: Customer data from direct-to-consumer genetic testing (DTC GT) are often used for secondary purposes beyond providing the customer with test results. Objective: The goals of this study were to determine customer knowledge of secondary uses of data, to understand their perception of risks associated with these uses, and to determine the extent of customer concerns about privacy. Methods: Twenty DTC GT customers were interviewed about their experiences. The semi-structured interviews were transcribed, coded, and analyzed for common themes. Results: Most participants were aware of some secondary uses of data. All participants felt that data usage for research was acceptable, but acceptability for non-research purposes varied across participants. The majority of participants were aware of the existence of a privacy policy, but few read the majority of the privacy statement. When previously unconsidered uses of data were discussed, some participants expressed concern over privacy protections for their data. Conclusion: When exposed to new information on secondary uses of data, customers express concerns and a desire to improve consent with transparency, more opt-out options, improved readability, and more information on future uses and potential risks from direct-to-consumer companies. Effective ways to improve readership about the secondary use, risk of use, and protection of customer data should be investigated and the findings implemented by DTC companies to protect public trust in these practices.

scholarly journals Contribution of the CK2 Catalytic Isoforms α and α’ to the Glycolytic Phenotype of Tumor Cells

Cells ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 181
Author(s):  
Francesca Zonta ◽  
Christian Borgo ◽  
Camila Paz Quezada Meza ◽  
Ionica Masgras ◽  
Andrea Rasola ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Protein Kinase ◽  
Cancer Cells ◽  
Tumor Cells ◽  
Therapeutic Strategies ◽  
The Other ◽  
Osteosarcoma Cell ◽  
Monomeric Form ◽  
New Information

CK2 is a Ser/Thr protein kinase overexpressed in many cancers. It is usually present in cells as a tetrameric enzyme, composed of two catalytic (α or α’) and two regulatory (β) subunits, but it is active also in its monomeric form, and the specific role of the different isoforms is largely unknown. CK2 phosphorylates several substrates related to the uncontrolled proliferation, motility, and survival of cancer cells. As a consequence, tumor cells are addicted to CK2, relying on its activity more than healthy cells for their life, and exploiting it for developing multiple oncological hallmarks. However, little is known about CK2 contribution to the metabolic rewiring of cancer cells. With this study we aimed at shedding some light on it, especially focusing on the CK2 role in the glycolytic onco-phenotype. By analyzing neuroblastoma and osteosarcoma cell lines depleted of either one (α) or the other (α’) CK2 catalytic subunit, we also aimed at disclosing possible pro-tumor functions which are specific of a CK2 isoform. Our results suggest that both CK2 α and α’ contribute to cell proliferation, survival and tumorigenicity. The analyzed metabolic features disclosed a role of CK2 in tumor metabolism, and suggest prominent functions for CK2 α isoform. Results were also confirmed by CK2 pharmacological inhibition. Overall, our study provides new information on the mechanism of cancer cells addiction to CK2 and on its isoform-specific functions, with fundamental implications for improving future therapeutic strategies based on CK2 targeting.

scholarly journals Spermine: Its Emerging Role in Regulating Drought Stress Responses in Plants

Cells ◽  
2021 ◽  
Vol 10 (2) ◽  
pp. 261
Author(s):  
Md. Mahadi Hasan ◽  
Milan Skalicky ◽  
Mohammad Shah Jahan ◽  
Md. Nazmul Hossain ◽  
Zunaira Anwar ◽  
...  
Keyword(s):  
Drought Stress ◽  
Drought Tolerance ◽  
Stress Responses ◽  
Abiotic Stresses ◽  
Defense Mechanisms ◽  
Antioxidant Defense ◽  
Severe Drought ◽  
New Information ◽  
Effects Of Drought

In recent years, research on spermine (Spm) has turned up a lot of new information about this essential polyamine, especially as it is able to counteract damage from abiotic stresses. Spm has been shown to protect plants from a variety of environmental insults, but whether it can prevent the adverse effects of drought has not yet been reported. Drought stress increases endogenous Spm in plants and exogenous application of Spm improves the plants’ ability to tolerate drought stress. Spm’s role in enhancing antioxidant defense mechanisms, glyoxalase systems, methylglyoxal (MG) detoxification, and creating tolerance for drought-induced oxidative stress is well documented in plants. However, the influences of enzyme activity and osmoregulation on Spm biosynthesis and metabolism are variable. Spm interacts with other molecules like nitric oxide (NO) and phytohormones such as abscisic acid, salicylic acid, brassinosteroids, and ethylene, to coordinate the reactions necessary for developing drought tolerance. This review focuses on the role of Spm in plants under severe drought stress. We have proposed models to explain how Spm interacts with existing defense mechanisms in plants to improve drought tolerance.

The role of the genetic testing industry in patient education of hereditary cancer: An observational study assessing the quality of pre-test patient education videos

2020 ◽  
Vol 159 (2) ◽  
pp. e22-e23
Author(s):  
Danielle Collins Greenberg ◽  
Daniella Kamara ◽  
Zina Tatsugawa ◽  
Marlene Mendoza ◽  
Elizabeth Pineda ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Patient Education ◽  
Observational Study ◽  
Hereditary Cancer ◽  
Test Patient

The Philosophy and Rhetoric of Auditor Independence Concepts

2004 ◽  
Vol 14 (3) ◽  
pp. 355-376 ◽  
Author(s):  
Sara Ann Reiter ◽  
Paul F. Williams
Keyword(s):  
Collective Responsibility ◽  
Auditor Independence ◽  
Early Years ◽  
Moral Foundation ◽  
Corporate Scandals ◽  
Economic Man ◽  
Accounting Scandals ◽  
Relational Concepts ◽  
American Society

Abstract:This paper analyzes the rhetoric surrounding the profession’s presentations of auditor independence. We trace the evolution of the character of the auditor from Professional Man in the early years of the twentieth century to the more public and abstract figures of Judicial Man and Economic Man. The changing character of the auditor in the profession’s narratives of legitimation reflects changes in the role of auditing, in the economic environment, and in the values of American society. Economic man is a self-interested and shallow character who offered the auditing profession little protection against involvement in corporate scandals. In the wake of recent accounting scandals, the profession is calling for a return to the character of Professional Man to restore trust in audits and the financial markets.We also analyze the philosophical bases of the metaphors surrounding auditor independence. These metaphors, particularly the metaphor of independence as separation, create problems in conceptualizing independence concepts. How can you discuss appropriate relationships when your basic concept is one of separation, or no relationship? On the other hand, relational concepts of independence are also flawed if they are not based on a firm moral foundation. We suggest how the profession can act to rebuild its moral foundation through recognition of collective responsibility.

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