Communication in medical genetics and patient autonomy

2020 ◽  
pp. 17-18
Author(s):  
С.В. Шевченко ◽  
С.В. Лаврентьева
Keyword(s):  
Patient Autonomy ◽  
Medical Genetics ◽  
Legal Problems

В свете коммуникативных особенностей медико-генетической консультации рассматривается два типа этико-правовых проблем, касающихся автономии пациента. Показана роль первичной консультации в их решении. In this paper we considered two types of ethical and legal problems regarding patient autonomy in perspective of the communicative features of the medical genetics. Also, this paper shows the role of the primary consultation in solution of this problems.

Phylogenetic approach in medical genetics. Evidence for deleterious role of ND5 gene defect in Leigh patients

Mitochondrion ◽  
2006 ◽  
Vol 6 (5) ◽  
pp. 19-20
Author(s):  
S. Zhadanov ◽  
E. Grechanina ◽  
Yu. Grechanina ◽  
V. Gusar ◽  
N. Fedoseeva ◽  
...  
Keyword(s):  
Medical Genetics ◽  
Gene Defect ◽  
Nd5 Gene

scholarly journals State of the art paper Contemporary role of medical genetics in internal medicine

2013 ◽  
Vol 4 ◽  
pp. 594-600 ◽  
Author(s):  
Marek Saracyn ◽  
Rafał Płoski ◽  
Stanisław Niemczyk
Keyword(s):  
Internal Medicine ◽  
State Of The Art ◽  
Medical Genetics

scholarly journals Variant Selection and Interpretation: An Example of Modified VarSome Classifier of ACMG Guidelines in the Diagnostic Setting

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1885
Author(s):  
Francesca Cristofoli ◽  
Elisa Sorrentino ◽  
Giulia Guerri ◽  
Roberta Miotto ◽  
Roberta Romanelli ◽  
...  
Keyword(s):  
Medical Genetics ◽  
Patient Specific ◽  
Specific Information ◽  
Variant Selection ◽  
Variant Classification ◽  
Variant Interpretation ◽  
Bioinformatics Pipeline ◽  
Different Levels ◽  
Diagnostic Setting

Variant interpretation is challenging as it involves combining different levels of evidence in order to evaluate the role of a specific variant in the context of a patient’s disease. Many in-depth refinements followed the original 2015 American College of Medical Genetics (ACMG) guidelines to overcome subjective interpretation of criteria and classification inconsistencies. Here, we developed an ACMG-based classifier that retrieves information for variant interpretation from the VarSome Stable-API environment and allows molecular geneticists involved in clinical reporting to introduce the necessary changes to criterion strength and to add or exclude criteria assigned automatically, ultimately leading to the final variant classification. We also developed a modified ACMG checklist to assist molecular geneticists in adjusting criterion strength and in adding literature-retrieved or patient-specific information, when available. The proposed classifier is an example of integration of automation and human expertise in variant curation, while maintaining the laboratory analytical workflow and the established bioinformatics pipeline.

Respect for Autonomy: Seeking the Roles of Healthcare Design From the Principle of Biomedical Ethics

2020 ◽  
Vol 13 (3) ◽  
pp. 230-244
Author(s):  
Liwei Zhu ◽  
Shanshan Zhang ◽  
Zhipeng Lu
Keyword(s):  
Patient Autonomy ◽  
Modern Society ◽  
Biomedical Ethics ◽  
Environment Design ◽  
Design Strategies ◽  
Respect For Autonomy ◽  
Healthcare Environment ◽  
Patient’S Autonomy ◽  
Definition Of

Objective: This article aims to discuss the role of the healthcare environment on patient’s autonomy. Referring to biomedical ethics will provide a research logic and form a theoretical framework for healthcare designers to define patient autonomy, to master the conditions for promoting it, and to discover the potential of the environment. Background: In modern society, it becomes the responsibility of healthcare architects to realize the design of “benefit for patients.” The goal of healthcare environment design and research is also gradually from a basic level of ensuring the physiological safety of patients to achieving a higher level of respecting patients and helping realize their self-realization. However, how to express respect to patients in the healthcare environment is ambiguous. In order to break through the limitation of architectural specialty, we propose to introduce biomedical ethics. Under this major premise, this article will discuss from the perspective of respect for autonomy (RA). Method: This article combines the definition of autonomy and the discussion of the medical and nursing practice to summarize and propose the themes about RA. It draws on the top-down deductive logic of biomedical ethics from theory to application and applies the three-condition theory of Beauchamp and Childress to deduce the role of the healthcare environment on patient autonomy in each theme. Conclusion: Introducing biomedical ethics into the study of environmental design provides a more theoretical and systematic way of thinking about the role of the healthcare environment. Some autonomy-supportive design strategies are collected and proposed.

scholarly journals Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Hannah Gelman ◽  
◽  
Jennifer N. Dines ◽  
Jonathan Berg ◽  
Alice H. Berger ◽  
...  
Keyword(s):  
Functional Data ◽  
Clinical Utility ◽  
Medical Genetics ◽  
Variant Interpretation ◽  
Variants Of Uncertain Significance ◽  
Uncertain Significance ◽  
Genetics And Genomics ◽  
New Guidelines

AbstractVariants of uncertain significance represent a massive challenge to medical genetics. Multiplexed functional assays, in which the functional effects of thousands of genomic variants are assessed simultaneously, are increasingly generating data that can be used as additional evidence for or against variant pathogenicity. Such assays have the potential to resolve variants of uncertain significance, thereby increasing the clinical utility of genomic testing. Existing standards from the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) and new guidelines from the Clinical Genome Resource (ClinGen) establish the role of functional data in variant interpretation, but do not address the specific challenges or advantages of using functional data derived from multiplexed assays. Here, we build on these existing guidelines to provide recommendations to experimentalists for the production and reporting of multiplexed functional data and to clinicians for the evaluation and use of such data. By following these recommendations, experimentalists can produce transparent, complete, and well-validated datasets that are primed for clinical uptake. Our recommendations to clinicians and diagnostic labs on how to evaluate the quality of multiplexed functional datasets, and how different datasets could be incorporated into the ACMG/AMP variant-interpretation framework, will hopefully clarify whether and how such data should be used. The recommendations that we provide are designed to enhance the quality and utility of multiplexed functional data, and to promote their judicious use.

An Exploration of the Relationship Between Patient Autonomy and Patient Advocacy: implications for nursing practice

2002 ◽  
Vol 9 (5) ◽  
pp. 472-482 ◽  
Author(s):  
Deirdre Hyland
Keyword(s):  
Health Care ◽  
Health Care Professionals ◽  
Patient Autonomy ◽  
Positive Outcome ◽  
Care Provision ◽  
Patient Advocates ◽  
The Right ◽  
The Relationship ◽  
Paternalistic Approach

The purpose of this article is to examine whether patient/client autonomy is always compatible with the nurse’s role of advocacy. The author looks separately at the concepts of autonomy and advocacy, and considers them in relation to the reality of clinical practice from professional, ethical and legal perspectives. Considerable ambiguity is found regarding the legitimacy of claims of a unique function for nurses to act as patient advocates. To act as an advocate may put nurses at personal and professional risk. It may also be deemed arrogant and insulting to other health care professionals. Patient autonomy can be seen as a subcategory of the right of every individual to self-determination, and as such is protected by law. However, it is questionable whether the traditionally paternalistic approach to health care provision truly respects the autonomous rights of each patient. The author considers examples and cases from the literature that resulted in professional and/or personal difficulties for the nurses involved, and also reflects on an incident from her own practice where a positive outcome was achieved that demonstrated compatibility between the concepts under consideration.

Overriding Patient Autonomy to Enhance It: Not the Role of a Consultation Team

2016 ◽  
Vol 16 (8) ◽  
pp. 11-13 ◽  
Author(s):  
John J. Paris ◽  
Robert L. Fogerty ◽  
Brian M. Cummings ◽  
M. Patrick Moore,
Keyword(s):  
Patient Autonomy ◽  
Consultation Team
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