Ethics and equity in rare disease research and healthcare

2021 ◽  
Author(s):  
Maria Koromina ◽  
Vasileios Fanaras ◽  
Gareth Baynam ◽  
Christina Mitropoulou ◽  
George P Patrinos
Keyword(s):  
Rare Diseases ◽  
Ethical Issues ◽  
Genetic Diseases ◽  
Ethical Framework ◽  
Middle Income ◽  
Next Generation Sequencing Technology ◽  
Ethical Frameworks ◽  
Rare Genetic Diseases ◽  
Conducting Research ◽  
Key Aspects

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. Moreover, we focus on addressing ethical issues surrounding research in low- and middle-income countries. Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks, when conducting research involving genomics data with a particular emphasis on rare diseases and genetics testing.

Pandemic Disease, Public Health, and Ethics

2019 ◽  
pp. 796-811 ◽  
Author(s):  
Maxwell Smith ◽  
Ross Upshur
Keyword(s):  
Public Health ◽  
Ethical Issues ◽  
Ethical Challenges ◽  
Pandemic Preparedness ◽  
Scarce Resources ◽  
Ethical Frameworks ◽  
Health Measures ◽  
Care Workers ◽  
The Face ◽  
Conducting Research

Infectious disease pandemics raise significant and novel ethical challenges to the organization and practice of public health. This chapter provides an overview of the salient ethical issues involved in preparing for and responding to pandemic disease, including those arising from deploying restrictive public health measures to contain and curb the spread of disease (e.g., isolation and quarantine), setting priorities for the allocation of scarce resources, health care workers’ duty to care in the face of heightened risk of infection, conducting research during pandemics, and the global governance of preventing and responding to pandemic disease. It also outlines ethical guidance from prominent ethical frameworks that have been developed to address these ethical issues and concludes by discussing some pressing challenges that must be addressed if ethical reflection is to make a meaningful difference in pandemic preparedness and response.

scholarly journals Reference exome data for a Northern Brazilian population

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Alexia L. Weeks ◽  
Richard W. Francis ◽  
Joao I. C. F. Neri ◽  
Nathaly M. C. Costa ◽  
Nivea M. R. Arrais ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Sequence Data ◽  
Genetic Diseases ◽  
Specific Reference ◽  
Single Nucleotide Variants ◽  
Data Set ◽  
Single Nucleotide ◽  
Rare Genetic Diseases ◽  
Genetics And Genomics ◽  
Brazilian Cohort

Abstract Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition. Here we provide a catalogue of variants called after sequencing the exomes of 45 babies from Rio Grande do Nord in Brazil. Sequence data were processed using an ‘intersect-then-combine’ (ITC) approach, using GATK and SAMtools to call variants. A total of 612,761 variants were identified in at least one individual in this Brazilian Cohort, including 559,448 single nucleotide variants (SNVs) and 53,313 insertion/deletions. Of these, 58,111 overlapped with nonsynonymous (nsSNVs) or splice site (ssSNVs) SNVs in dbNSFP. As an aid to clinical diagnosis of rare diseases, we used the American College of Medicine Genetics and Genomics (ACMG) guidelines to assign pathogenic/likely pathogenic status to 185 (0.32%) of the 58,111 nsSNVs and ssSNVs. Our data set provides a useful reference point for diagnosis of rare diseases in Brazil. (169 words).

scholarly journals On the ethics of social network research in libraries

2016 ◽  
Vol 14 (2) ◽  
pp. 139-151 ◽  
Author(s):  
Sara Mannheimer ◽  
Scott W.H. Young ◽  
Doralyn Rossmann
Keyword(s):  
Ethical Issues ◽  
Information Access ◽  
Library Science ◽  
Ethical Framework ◽  
Ethical Practice ◽  
Social Networking Service ◽  
Value Analysis ◽  
Content Type ◽  
Conducting Research

Purpose In this paper, faculty librarians at an academic institution explore the ethical dimensions of conducting research with user-generated social networking service (SNS) data. In an effort to guide librarian-researchers, this paper first offers a background discussion of privacy ethics across disciplines and then proposes a library-specific ethical framework for conducting SNS research. Design/methodology/approach By surveying the literature in other disciplines, three key considerations are identified that can inform ethical practice in the field of library science: context, expectation, and value analysis. For each of these considerations, the framework is tailored to consider ethical issues, as they relate to libraries and our practice as librarian-researchers. Findings The unique role of the librarian-researcher demands an ethical framework specific to that practice. The findings of this paper propose such a framework. Practical implications Librarian-researchers are at a unique point in our history. In exploring SNSs as a source of data to conduct research and improve services, we become challenged by conflicting and equally cherished values of patron privacy and information access. By evaluating research according to context, expectations, and value, this framework provides an ethical path forward for research using SNS data. Originality/value As of this paper’s publication, there is no existing ethical framework for conducting SNS research in libraries. The proposed framework is informed both by library values and by broader research values, and therefore provides unique guidelines for the librarian-researcher.

scholarly journals Ethical issues in the use of SMS messaging in HIV care and treatment in low- and middle-income countries: case examples from Mozambique

2017 ◽  
Vol 25 (4) ◽  
pp. 423-427 ◽  
Author(s):  
Ezequiel B Ossemane ◽  
Troy D Moon ◽  
Martin C Were ◽  
Elizabeth Heitman
Keyword(s):  
Large Scale ◽  
Ethical Issues ◽  
Scale Up ◽  
Hiv Care ◽  
Ethical Framework ◽  
Middle Income ◽  
Middle Income Countries ◽  
Retention In Hiv Care ◽  
Care And Treatment ◽  
Low And Middle Income

Abstract The introduction of mobile communication technologies in health care in low- and middle-income countries offers an opportunity for increased efficiencies in provision of care, improved utilization of scarce resources, reductions in workload, and increased reach of services to a larger target population. Short message service (SMS) technologies offer promise, with several large-scale SMS-based implementations already under way. Still largely lacking in the research literature are evaluations of specific ethical issues that arise when SMS programs are implemented and studied in resource-limited settings. In this paper, we examine the ethical issues raised by the deployment of SMS messaging to support patient retention in HIV care and treatment and in the research conducted to evaluate that deployment. We use case studies that are based in Mozambique and ground our discussion in the ethical framework for international research proposed by Emanuel et al., highlighting ethical considerations needed to guide the design and implementation of future SMS-based interventions. Such guidance is increasingly needed in countries such as Mozambique, where the local capacity for ethical study design and oversight is still limited and the scale-up and study of mHealth initiatives are still driven predominantly by international collaborators. These issues can be complex and will need ongoing attention on a case-by-case basis to ensure that appropriate protections are in place, while simultaneously maximizing the potential benefit of new mHealth technologies.

scholarly journals Rett syndrome in Russia and abroad: a scientific historical review

2020 ◽  
Vol 65 (3) ◽  
pp. 25-31
Author(s):  
S. G. Vorsanova ◽  
Yu. B. Yurov ◽  
V. Yu. Voinova ◽  
I. Yu. Yurov
Keyword(s):  
Rett Syndrome ◽  
Rare Diseases ◽  
Gene Sequence ◽  
Genetic Diseases ◽  
Historical Review ◽  
Mecp2 Gene ◽  
Cellular Mechanisms ◽  
Rare Genetic Diseases ◽  
Present Information ◽  
Genomic Disorders

This review presents the theoretical, practical and geographical aspects of Rett syndrome and other rare diseases, according to the data of the last VIII International Congress in Russia, and the main publications on Rett syndrome. The issues highlighted by the participants remain relevant and determine the direction of modern studies. The presentations made at the symposium helped to form a global concept of the molecular and cellular mechanisms of Rett syndrome and a number of rare genetic/genomic diseases. The article presents a number of domestic findings in the field of Rett syndrome and other rare diseases. The authors also present information on rare diseases associated with the Rett-like-phenotype or with mutations/variations of the MECP2 gene sequence copies. The authors consider the identified chromosomal (genomic) disorders / diseases in the context of rare diseases. This approach to the Rett syndrome studies analysis is quite new in the world research practice. We hope this review to become valuable not only for specialists in the field of rare genetic diseases, but also for the scientists and clinicians studying Rett syndrome and for physicians (pediatricians, geneticists, neurologists, psychiatrists) meeting these patients in their practice.

scholarly journals RDmap: A Map for Exploring Rare Diseases

2021 ◽  
Author(s):  
Jian Yang ◽  
Cong Dong ◽  
Huilong Duan ◽  
Qiang Shu ◽  
Haomin Li
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Genetic Diseases ◽  
Distance Matrix ◽  
Disease Diagnosis ◽  
Human Phenotype ◽  
Pathogenic Genes ◽  
Disease Information ◽  
Rare Genetic Diseases ◽  
Interactive Map

Abstract Background: The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and navigating rare diseases based on similarity will help clinicians and researchers understand and easily explore these diseases. Methods: A distance matrix of rare diseases included in Orphanet was measured by calculating the quantitative distance among phenotypes and pathogenic genes based on Human Phenotype Ontology (HPO) and Gene Ontology (GO), and each disease was mapped into Euclidean space. A rare disease map, enhanced by clustering classes and disease information, was developed based on ECharts. Results: A rare disease map called RDmap was published at http://rdmap.nbscn.org. Total 3,287 rare diseases are included in the phenotype-based map, and 3,789 rare genetic diseases are included in the gene-based map; 1,718 overlapping diseases are connected between two maps. RDmap works similarly to the widely used Google Map service and supports zooming and panning. The phenotype similarity base disease location function performed better than traditional keyword searches in an in silico evaluation, and 20 published cases of rare diseases also demonstrated that RDmap can assist clinicians in seeking the rare disease diagnosis. Conclusion: RDmap is the first user-interactive map-style rare disease knowledgebase. It will help clinicians and researchers explore the increasingly complicated realm of rare genetic diseases.

scholarly journals Genomics of rare genetic diseases—experiences from India

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Sridhar Sivasubbu ◽  
◽  
Vinod Scaria
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Collaborative Research ◽  
Disease Burden ◽  
Genetic Diseases ◽  
Community Services ◽  
Health Concern ◽  
Healthy Population ◽  
Rare Genetic Diseases ◽  
Research Initiative

Abstract Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of consanguinity, not only makes the Indian population distinct from rest of the world but also provides a unique advantage and niche to understand genetic diseases. Centuries of genetic isolation of population groups have amplified the founder effects, contributing to high prevalence of recessive alleles, which translates into genetic diseases, including rare genetic diseases in India. Rare genetic diseases are becoming a public health concern in India because a large population size of close to a billion people would essentially translate to a huge disease burden for even the rarest of the rare diseases. Genomics-based approaches have been demonstrated to accelerate the diagnosis of rare genetic diseases and reduce the socio-economic burden. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) stands for providing genomic solutions for rare diseases in India. The consortium aims to establish a unique collaborative framework in health care planning, implementation, and delivery in the specific area of rare genetic diseases. It is a nation-wide collaborative research initiative catering to rare diseases across multiple cohorts, with over 240 clinician/scientist collaborators across 70 major medical/research centers. Within the GUaRDIAN framework, clinicians refer rare disease patients, generate whole genome or exome datasets followed by computational analysis of the data for identifying the causal pathogenic variations. The outcomes of GUaRDIAN are being translated as community services through a suitable platform providing low-cost diagnostic assays in India. In addition to GUaRDIAN, several genomic investigations for diseased and healthy population are being undertaken in the country to solve the rare disease dilemma. In summary, rare diseases contribute to a significant disease burden in India. Genomics-based solutions can enable accelerated diagnosis and management of rare diseases. We discuss how a collaborative research initiative such as GUaRDIAN can provide a nation-wide framework to cater to the rare disease community of India.

scholarly journals RDmap: a map for exploring rare diseases

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Jian Yang ◽  
Cong Dong ◽  
Huilong Duan ◽  
Qiang Shu ◽  
Haomin Li
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Genetic Diseases ◽  
Distance Matrix ◽  
Disease Diagnosis ◽  
Human Phenotype ◽  
Pathogenic Genes ◽  
Disease Information ◽  
Rare Genetic Diseases ◽  
Interactive Map

Abstract Background The complexity of the phenotypic characteristics and molecular bases of many rare human genetic diseases makes the diagnosis of such diseases a challenge for clinicians. A map for visualizing, locating and navigating rare diseases based on similarity will help clinicians and researchers understand and easily explore these diseases. Methods A distance matrix of rare diseases included in Orphanet was measured by calculating the quantitative distance among phenotypes and pathogenic genes based on Human Phenotype Ontology (HPO) and Gene Ontology (GO), and each disease was mapped into Euclidean space. A rare disease map, enhanced by clustering classes and disease information, was developed based on ECharts. Results A rare disease map called RDmap was published at http://rdmap.nbscn.org. Total 3287 rare diseases are included in the phenotype-based map, and 3789 rare genetic diseases are included in the gene-based map; 1718 overlapping diseases are connected between two maps. RDmap works similarly to the widely used Google Map service and supports zooming and panning. The phenotype similarity base disease location function performed better than traditional keyword searches in an in silico evaluation, and 20 published cases of rare diseases also demonstrated that RDmap can assist clinicians in seeking the rare disease diagnosis. Conclusion RDmap is the first user-interactive map-style rare disease knowledgebase. It will help clinicians and researchers explore the increasingly complicated realm of rare genetic diseases.

scholarly journals An Ethical Framework for the Use of Horses in Competitive Sport: Theory and Function

Animals ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1725 ◽  
Author(s):  
Madeleine L. H. Campbell
Keyword(s):  
Ad Hoc ◽  
Ethical Issues ◽  
Theoretical Development ◽  
Ethical Framework ◽  
Ethical Frameworks ◽  
Social License ◽  
The Social ◽  
Sports Ethics ◽  
Equestrian Sport ◽  
And Function

Growing ethical concern about equestrian sport is reflected in publications by regulatory authorities, animal charities, and the lay press; and in government debate and social media. However, attempts by regulators and stakeholders to address ethical issues in equine sport have been discipline specific and ad hoc. Ethical frameworks can help stakeholders to make contextual decisions about what should or should not be done in a particular situation. However, when existing animal welfare frameworks and existing sports ethics frameworks are reviewed in this paper, it becomes clear that none provide us with a suitable or sufficient tool for considering ethical issues which can arise in situations where the athlete is a non-human, non-consenting participant. This paper presents the theoretical development of a novel ethical framework, with the aim of providing stakeholders with a tool which they might apply to the consideration of the ethical questions which inevitably arise in relation to (equestrian) sport. The derivation and limitations of the ethical framework are explained. The use of the framework will serve both to underwrite the continuation of the social license to use horses in sport and also to enable those within equestrian sport to critically assess existing and proposed practices and to make welfare-improving adjustments to practice if/where necessary. The theoretical framework as presented here is currently being practically tested and refined in consultation with industry stakeholders, and that research will be submitted for publication in due course.

scholarly journals Use of Zebrafish Models to Boost Research in Rare Genetic Diseases

2021 ◽  
Vol 22 (24) ◽  
pp. 13356
Author(s):  
Lucie Crouzier ◽  
Elodie M. Richard ◽  
Jo Sourbron ◽  
Lieven Lagae ◽  
Tangui Maurice ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Genetic Diseases ◽  
Critical Role ◽  
High Rate ◽  
Research Strategies ◽  
Preclinical Research ◽  
In Vivo Models ◽  
Rare Genetic Diseases ◽  
Number Of Patients

Rare genetic diseases are a group of pathologies with often unmet clinical needs. Even if rare by a single genetic disease (from 1/2000 to 1/more than 1,000,000), the total number of patients concerned account for approximatively 400 million peoples worldwide. Finding treatments remains challenging due to the complexity of these diseases, the small number of patients and the challenge in conducting clinical trials. Therefore, innovative preclinical research strategies are required. The zebrafish has emerged as a powerful animal model for investigating rare diseases. Zebrafish combines conserved vertebrate characteristics with high rate of breeding, limited housing requirements and low costs. More than 84% of human genes responsible for diseases present an orthologue, suggesting that the majority of genetic diseases could be modelized in zebrafish. In this review, we emphasize the unique advantages of zebrafish models over other in vivo models, particularly underlining the high throughput phenotypic capacity for therapeutic screening. We briefly introduce how the generation of zebrafish transgenic lines by gene-modulating technologies can be used to model rare genetic diseases. Then, we describe how zebrafish could be phenotyped using state-of-the-art technologies. Two prototypic examples of rare diseases illustrate how zebrafish models could play a critical role in deciphering the underlying mechanisms of rare genetic diseases and their use to identify innovative therapeutic solutions.

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