scholarly journals Genomic Research with the Newly Dead: A Crossroads for Ethics and Policy

2014 ◽  
Vol 42 (2) ◽  
pp. 220-231 ◽  
Author(s):  
Rebecca L. Walker ◽  
Eric T. Juengst ◽  
Warren Whipple ◽  
Arlene M. Davis
Keyword(s):  
Genomic Medicine ◽  
Tissue Expression ◽  
National Institutes Of Health ◽  
Genomic Research ◽  
Genomic Sequencing ◽  
Human Tissues ◽  
Large Numbers ◽  
Heart Beating ◽  
Interest In Research ◽  
The Relationship

Research uses of human bodies maintained by mechanical ventilation after being declared dead by neurological criteria (“heart-beating cadavers”), were first published in the early 1980s with a renewed interest in research on the newly or nearly dead occurring in about last decade. While this type of research may take many different forms, recent technologic advances in genomic sequencing along with high hopes for genomic medicine, have inspired interest in genomic research with the newly dead. For example, the Genotype-Tissue Expression (GTEx) program through the National Institutes of Health aims to collect large numbers of diverse human tissues with the eventual goal of elucidating the genetic bases of common diseases through a better understanding of the relationship between genetic variation and gene expression.

scholarly journals Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study

2018 ◽  
Vol 56 (5) ◽  
pp. 317-324 ◽  
Author(s):  
Joel E Pacyna ◽  
Carmen Radecki Breitkopf ◽  
Sarah M Jenkins ◽  
Erica J Sutton ◽  
Caroline Horrow ◽  
...  
Keyword(s):  
Genetic Counselling ◽  
Genomic Medicine ◽  
Decisional Conflict ◽  
National Institutes Of Health ◽  
Genomic Sequencing ◽  
Implementation Study ◽  
Lower Health ◽  
Lower Education ◽  
Time Required ◽  
Actionable Variants

PurposeWe assessed the decision-making of individuals pursuing genomic sequencing without a requirement for pretest genetic counselling. We sought to describe the extent to which individuals who decline genetic counselling reported decisional conflict or struggled to make a decision to pursue genomic testing.MethodsWe administered a 100-item survey to 3037 individuals who consented to the Return of Actionable Variants Empirical study, a genomic medicine implementation study supported by the National Institutes of Health (USA) eMERGE consortium. The primary outcomes of interest were self-reported decisional conflict about the decision to participate in the study and time required to reach a decision.ResultsWe received 2895 completed surveys (response rate=95.3%), and of these respondents 97.8% completed the decisional conflict scale in its entirety. A majority of individuals (63%) had minimal or no decisional conflict about the pursuit of genomic sequencing and were able to reach a decision quickly (78%). Multivariable logistic regression analyses identified several characteristics associated with decisional conflict, including lower education, lower health literacy, lower self-efficacy in coping, lack of prior experience with genetic testing, not discussing study participation with a family member or friend, and being male.ConclusionAs genomic sequencing is used more widely, genetic counselling resources may not be sufficient to meet demand. Our results challenge the notion that all individuals need genetic counselling in order to make an informed decision about genomic sequencing.

scholarly journals ‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research

2021 ◽  
Author(s):  
Matilda A. Haas ◽  
Harriet Teare ◽  
Megan Prictor ◽  
Gabi Ceregra ◽  
Miranda E. Vidgen ◽  
...  
Keyword(s):  
Large Scale ◽  
Genomic Medicine ◽  
International Standards ◽  
Security And Privacy ◽  
Genomic Research ◽  
Return Of Results ◽  
Future Research ◽  
Design And Development ◽  
Participant Engagement ◽  
Dynamic Consent

AbstractThe complexities of the informed consent process for participating in research in genomic medicine are well-documented. Inspired by the potential for Dynamic Consent to increase participant choice and autonomy in decision-making, as well as the opportunities for ongoing participant engagement it affords, we wanted to trial Dynamic Consent and to do so developed our own web-based application (web app) called CTRL (control). This paper documents the design and development of CTRL, for use in the Australian Genomics study: a health services research project building evidence to inform the integration of genomic medicine into mainstream healthcare. Australian Genomics brought together a multi-disciplinary team to develop CTRL. The design and development process considered user experience; security and privacy; the application of international standards in data sharing; IT, operational and ethical issues. The CTRL tool is now being offered to participants in the study, who can use CTRL to keep personal and contact details up to date; make consent choices (including indicate preferences for return of results and future research use of biological samples, genomic and health data); follow their progress through the study; complete surveys, contact the researchers and access study news and information. While there are remaining challenges to implementing Dynamic Consent in genomic research, this study demonstrates the feasibility of building such a tool, and its ongoing use will provide evidence about the value of Dynamic Consent in large-scale genomic research programs.

scholarly journals An Investigation of the Relationship between Cyniclomyces guttulatus and Rabbit Diarrhoea

Pathogens ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 880
Author(s):  
Tuanyuan Shi ◽  
Xinlei Yan ◽  
Hongchao Sun ◽  
Yuan Fu ◽  
Lili Hao ◽  
...  
Keyword(s):  
New Zealand ◽  
Body Weight Gain ◽  
Animal Experiments ◽  
Zealand White Rabbit ◽  
Opportunistic Pathogen ◽  
Large Numbers ◽  
New Zealand White Rabbits ◽  
Positive Rate ◽  
Relationship Of ◽  
The Relationship

Cyniclomyces guttulatus is usually recognised as an inhabitant of the gastrointestinal (GI) tract in rabbits. However, large numbers of C. guttulatus are often detected in the faeces of diarrhoeic rabbits. The relationship of C. guttulatus with rabbit diarrhoea needs to be clearly identified. In this study, a C. guttulatus Zhejiang strain was isolated from a New Zealand White rabbit with severe diarrhoea and then inoculated into SPF New Zealand white rabbits alone or co-inoculated with Eimeriaintestinalis, another kind of pathogen in rabbits. Our results showed that the optimal culture medium pH and temperature for this yeast were pH 4.5 and 40–42 °C, respectively. The sequence lengths of the 18S and 26S ribosomal DNA fragments were 1559 bp and 632 bp, respectively, and showed 99.8% homology with the 18S ribosomal sequence of the NRRL Y-17561 isolate from dogs and 100% homology with the 26S ribosomal sequence of DPA-CGR1 and CGDPA-GP1 isolates from rabbits and guinea pigs, respectively. In animal experiments, the C. guttulatus Zhejiang strain was not pathogenic to healthy rabbits, even when 1 × 108 vegetative cells were used per rabbit. Surprisingly, rabbits inoculated with yeast showed a slightly better body weight gain and higher food intake. However, SPF rabbits co-inoculated with C. guttulatus and E. intestinalis developed more severe coccidiosis than rabbits inoculated with C. guttulatus or E. intestinalis alone. In addition, we surveyed the prevalence of C. guttulatus in rabbits and found that the positive rate was 83% in Zhejiang Province. In summary, the results indicated that C. guttulatus alone is not pathogenic to healthy rabbits, although might be an opportunistic pathogen when the digestive tract is damaged by other pathogens, such as coccidia.

Pre-Admission CHADS2 and CHA2DS2-VASc Scores on Early Neurological Worsening

2021 ◽  
pp. 1-8
Author(s):  
Ki-Woong Nam ◽  
Chi Kyung Kim ◽  
Sungwook Yu ◽  
Jong-Won Chung ◽  
Oh Young Bang ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Stroke Risk ◽  
Multivariable Analysis ◽  
National Institutes Of Health ◽  
Risk Scores ◽  
Stroke Patients ◽  
Nihss Score ◽  
Early Neurological Deterioration ◽  
Close Relationship ◽  
The Relationship

<b><i>Background:</i></b> Stroke risk scores (CHADS<sub>2</sub> and CHA<sub>2</sub>DS<sub>2</sub>-VASc) not only predict the risk of stroke in atrial fibrillation (AF) patients, but have also been associated with prognosis after stroke. <b><i>Objective:</i></b> The aim of this study was to evaluate the relationship between stroke risk scores and early neurological deterioration (END) in ischemic stroke patients with AF. <b><i>Methods:</i></b> We included consecutive ischemic stroke patients with AF admitted between January 2013 and December 2015. CHADS<sub>2</sub> and CHA<sub>2</sub>DS<sub>2</sub>-VASc scores were calculated using the established scoring system. END was defined as an increase ≥2 on the total National Institutes of Health Stroke Scale (NIHSS) score or ≥1 on the motor NIHSS score within the first 72 h of admission. <b><i>Results:</i></b> A total of 2,099 ischemic stroke patients with AF were included. In multivariable analysis, CHA<sub>2</sub>DS<sub>2</sub>-VASc score (adjusted odds ratio [aOR] = 1.17, 95% confidence interval [CI] = 1.04–1.31) was significantly associated with END after adjusting for confounders. Initial NIHSS score, use of anticoagulants, and intracranial atherosclerosis (ICAS) were also found to be closely associated with END, independent of the CHA<sub>2</sub>DS<sub>2</sub>-VASc score. Multivariable analysis stratified by the presence of ICAS demonstrated that both CHA<sub>2</sub>DS<sub>2</sub>-VASc (aOR = 1.20, 95% CI = 1.04–1.38) and CHADS<sub>2</sub> scores (aOR = 1.24, 95% CI = 1.01–1.52) were closely related to END in only patients with ICAS. In patients without ICAS, neither of the risk scores were associated with END. <b><i>Conclusions:</i></b> High CHA<sub>2</sub>DS<sub>2</sub>-VASc score was associated with END in ischemic stroke patients with AF. This close relationship is more pronounced in patients with ICAS.

scholarly journals Indispensability of Clinical Bioinformatics for Effective Implementation of Genomic Medicine in Pathology Laboratories

ACI Open ◽  
2020 ◽  
Vol 04 (02) ◽  
pp. e167-e172
Author(s):  
Srikar Chamala ◽  
Siddardha Majety ◽  
Shesh Nath Mishra ◽  
Kimberly J. Newsom ◽  
Shaileshbhai Revabhai Gothi ◽  
...  
Keyword(s):  
Patient Care ◽  
Clinical Laboratory ◽  
Clinical Care ◽  
Genomic Medicine ◽  
Clinical Pathology ◽  
Genetic Mutation ◽  
Genomic Research ◽  
Pathology Laboratory ◽  
Clinical Bioinformatics ◽  
Effective Implementation

AbstractPatient care is rapidly evolving toward the inclusion of precision genomic medicine when genomic tests are used by clinicians to determine disease predisposition, prognosis, diagnosis, and improve therapeutic decision-making. However, unlike other clinical pathology laboratory tests, the development, deployment, and delivery of genomic tests and results are an intricate process. Genomic technologies are diverse, fast changing, and generate massive data. Implementation of these technologies in a Clinical Laboratory Improvement Amendments-certified and College of American Pathologists-accredited pathology laboratory often require custom clinical grade computational data analysis and management workflows. Additionally, accurate classification and reporting of clinically actionable genetic mutation requires well-curated disease/application-specific knowledgebases and expertise. Moreover, lack of “out of the box” technical features in electronic health record systems necessitates custom solutions for communicating genetic information to clinicians and patients. Genomic data generated as part of clinical care easily adds great value for translational research. In this article, we discuss current and future innovative clinical bioinformatics solutions and workflows developed at our institution for effective implementation of precision genomic medicine across molecular pathology, patient care, and translational genomic research.

Memory as National Values

2021 ◽  
pp. 120-148
Author(s):  
Kathrin Bachleitner
Keyword(s):  
Collective Memory ◽  
Refugee Crisis ◽  
Collective Memories ◽  
Course Of Action ◽  
Long Run ◽  
Large Numbers ◽  
National Values ◽  
Conscious Choice ◽  
The Relationship

This chapter places collective memory at the source of a country’s values. In that regard, it enquires into the nature of normative obligations arising from memory. Based on moral-philosophical considerations, it finds normativity in the ‘processes surrounding memory’ described in the temporal security concept. Over time, the relationship between collective memory, identity, and behaviour generates a ‘duty to act’ for countries in the sense of ‘ought’. This last and most diffuse impact of collective memory unfolds and persists into the long run. Through it, collective memory, entirely outside the realm of conscious choice, channels behaviour towards one good course of action. To illustrate this, the empirical study picks up the case countries, Germany and Austria, at a late point in time. In 2015, large numbers of refugees arrived at their borders during what became known as the ‘European refugee crisis’. In this ‘critical situation’, both countries were required to react and thus position themselves vis-à-vis the highly normative issue of asylum. With the help of a content analysis of official speeches, the case study demonstrates how German and Austrian politicians came to identify different versions of what a good response entails based on their country’s diverse collective memories.

scholarly journals The GTEx Consortium atlas of genetic regulatory effects across human tissues

Science ◽  
2020 ◽  
Vol 369 (6509) ◽  
pp. 1318-1330 ◽  
Author(s):  
Keyword(s):  
Complex Traits ◽  
Molecular Mechanisms ◽  
Tissue Expression ◽  
Genetic Effects ◽  
Regulatory Mechanisms ◽  
Human Tissues ◽  
Genetic Associations ◽  
Key Factor ◽  
Regulatory Effects ◽  
Almost All

The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue specificity of genetic effects and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.

scholarly journals Defining and Achieving Health Equity in Genomic Medicine

2019 ◽  
Vol 29 (Suppl 1) ◽  
pp. 173-178 ◽  
Author(s):  
Sonya Jooma ◽  
Michael J. Hahn ◽  
Lucia A. Hindorff ◽  
Vence L. Bonham
Keyword(s):  
Health Care ◽  
Health Equity ◽  
Health Care Providers ◽  
Genomic Medicine ◽  
Genomic Research ◽  
Infrastructure Development ◽  
Care Providers ◽  
Health Care Settings ◽  
Traditional Research ◽  
Improve Health

The potential of genomics to improve health comes with the peril that the benefits will not be equitably available to all populations. Existing health disparities can be exacer­bated if the implementation of genomic medicine does not intentionally focus on health equity. Defining what health equity means in the context of genomics and outlining how it can be achieved is impor­tant for the future of the field. Strategies to improve health equity include addressing underrepresentation of diverse popula­tions in genomic research, investigating how genomic services can be deployed in diverse health care settings and underserved communities, increasing workforce diversity, supporting infrastructure development out­side traditional research centers, and engag­ing communities and health care providers. By employing these strategies, the genomic research community can advance health equity in genomic medicine. Ethn Dis. 2019;29(Suppl 1):173-178; doi:10.18865/ed.29.S1.173.

scholarly journals Einige Erfahrungen und Gedanken über Hochschuldidaktik an der Massenuniversität / Some remarks and observation on teaching methods at university with mass student attendence

1976 ◽  
Vol 5 (1) ◽  
Author(s):  
Carol Hagemann-White
Keyword(s):  
Teaching Methods ◽  
Final Section ◽  
University Teaching ◽  
Teaching Behavior ◽  
Large Numbers ◽  
University Of Berlin ◽  
Teachers And Students ◽  
Fruitful Cooperation ◽  
The University ◽  
The Relationship

AbstractThe author reports her experience of and observations on the teaching of sociology at the Free University of Berlin. She examines the teaching behavior of the instructors, the relationship between colleagues, and those between teachers and students. Certain tendencies in the practice of teaching are viewed as expressing a form of coping by projection with the failures experienced in trying to reform studies, failures that are in fact caused by the unfavorable real conditions at the university. A tendency to make university teaching more like schooling is observed; reasons for this are found in the effects of pressure towards professional competition, which prevents both fruitful cooperation between instructors and genuine communication with students. The additional difficulties experienced by women in teaching are described. In the final section conclusions are drawn in the form of practical suggestions which take account of the actual possibilities of a university with very large numbers of students.

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