An overview of the impact of rare disease characteristics on research methodology

Whicher, Danielle; Philbin, Sarah; Aronson, Naomi

doi:10.1186/s13023-017-0755-5

Cited by 65 publications

(56 citation statements)

References 27 publications

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“…Therefore, this paper will focus on exploring objectivity in the research of chronic, serious, and potentially progressive rare diseases. Similarly, the natural history of the disease in an individual may not correlate with the expected journey-even within an individual, the course of the disease may change unexpectedly (Bygum, Busse, Caballero, & Maurer, 2017;Divino et al, 2016;Vuga et al, 2019;Whicher, Philbin, & Aronson, 2018). The heterogeneity of disease presentation varies not only between diseases but may also vary between individuals with the same disease (as can occur in hereditary angioedema or hemophilia) (Bygum et al, 2011;Carcao, Berg, Ljung, & Mancuso, 2013).…”

Section: R Are D Is E a S E Re S E Archmentioning

confidence: 99%

“…In chronic rare diseases, the type and number of studies that can be conducted depend on the size and characteristics of each affected population (Whicher et al, 2018). As the number of individuals living with a particular disease is relatively small-and there are a significant number of rare conditions-an array of challenges complicates the knowledge development in this area of study (Institute of Medicine Committee on Accelerating Rare Diseases Research & Orphan Products, 2010).…”

Section: R Are D Is E a S E Re S E Archmentioning

confidence: 99%

“…The heterogeneity of disease presentation varies not only between diseases but may also vary between individuals with the same disease (as can occur in hereditary angioedema or hemophilia) (Bygum et al, 2011;Carcao, Berg, Ljung, & Mancuso, 2013). Similarly, the natural history of the disease in an individual may not correlate with the expected journey-even within an individual, the course of the disease may change unexpectedly (Bygum, Busse, Caballero, & Maurer, 2017;Divino et al, 2016;Vuga et al, 2019;Whicher, Philbin, & Aronson, 2018).…”

Section: R Are D Is E a S E Re S E Archmentioning

confidence: 99%

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Objectivity in rare disease research: A philosophical approach

2019

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Individuals living with rare conditions are faced with important challenges derived from the rarity of their conditions and aggravated by the low priority given to rare disease research. However, current realities of rare disease research require consideration of the relationship between subjectivity and 'traditional' objectivity.Objectivity in research has traditionally been associated with processes and descriptions that are independent of the investigator. The need for researchers to provide unbiased knowledge and achieve a balance between objectivity and the underlying values in nursing and scientific research requires an examination of how objectivity is conceptualized within the context of rare disease research. The aim of this paper is to examine scientific objectivity in rare disease research from a philosophical viewpoint and, in doing so, demonstrate the need to redefine it to reflect the current scientific environment. As such, healthcare providers working on this field need to redefine objectivity around ethical and moral obligation to advance science in an equitable manner with the end goal to produce knowledge that is trustworthy and beneficial to our patients. K E Y W O R D Sethics, moral, nursing practice, philosophy, philosophy of science, research implementation, research in practice

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Section: R Are D Is E a S E Re S E Archmentioning

confidence: 99%

Section: R Are D Is E a S E Re S E Archmentioning

confidence: 99%

Section: R Are D Is E a S E Re S E Archmentioning

confidence: 99%

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Objectivity in rare disease research: A philosophical approach

2019

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“…• Limited access to therapies or clinical trials (difficult to determine optimal study design for many diseases) (Mascalzoni et al 2014;Kempf et al 2018;Whicher et al 2018);…”

Section: Accessmentioning

confidence: 99%

Human germline genome editing is illegal in Canada, but could it be desirable for some members of the rare disease community?

Kleiderman

Stedman

2019

J Community Genet

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Human germline genome editing may prove to be especially poignant for members of the rare disease community, many of whom are diagnosed with monogenic diseases. This community lacks broad representation in the literature surrounding genome editing, notably in Canada, yet is likely to be directly affected by eventual clinical applications of this technology. Although not generalizable, the literature does offer some commonalities regarding the experiences of rare disease patients. This manuscript seeks to contribute to the search for broader societal dialogue surrounding human germline genome editing by exploring some of those commonalities that comfort the notion that CRISPR may hold promise or be desirable for some members of this community. We first explore the legal and policy context surrounding germline genome editing, focusing closely on Canada, then provide an overview of the common challenges experienced by members of the rare disease community, and finally assess the opportunities of germline genome editing vis-à-vis rare disease as we advocate for the need to more actively engage with the community in our search for public engagement.

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“…Registration, on the other hand, could be defined as the process of the continuous systematic collection of data on the occurrence and characteristics of the related healthcare phenomenon. Moreover, RD registries facilitate comprehensive surveillance of the prevalence and incidence of RDs, and enable the well-founded evaluation of different aspects of healthcare procedures and outcomes [6]. Quality RD registries ipso facto provide a beneficial and applicable platform in all stages of evidence-informed healthcare policymaking, and may contribute to significant advancement in the management of RDs in general.…”

Section: Introductionmentioning

confidence: 99%

Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia

Stanimirović

Murko

Battelino

et al. 2019

Orphanet J Rare Dis

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Background According to rough estimates, there are approximately 150,000 rare disease patients in Slovenia (out of a total population of 2 million). Despite the absence of accurate epidemiological data on their status, these figures reveal the great importance of this area for the Slovenian healthcare system. Consistent monitoring in the field of rare diseases facilitates evidence-informed healthcare policies, comprehensive observation of rare disease patients, and consequently serves increasingly demanding medical and statistical needs. This paper initially explores the current situation concerning rare diseases and identifies related challenges for the planned development of a national rare disease registry in Slovenia. Based on the research findings, the paper outlines the construction of the pilot rare disease registry and conceptualizes the establishment of a rare disease ecosystem in Slovenia. Methods The research is based on a case study design, where focus group sessions were used as the main data collection technique. Structured discussions were conducted with 24 eminent experts affiliated with the leading institutions in the field of rare diseases in Slovenia. Analysis and interpretations of the data obtained were carried by means of conventional content analysis. A subsequent course of action for developing the pilot rare disease registry and conceptualizing the rare disease ecosystem was formulated in collaboration with the experts participating in the focus groups. Results The research results indicate that the effective development of the national rare disease registry, followed by the establishment of the rare disease ecosystem in Slovenia, requires a broad approach that entails a whole series of systemic changes and considerations. Moreover, well-orchestrated and well-funded efforts to achieve this goal should involve the coordinated action of all stakeholders, including the amendment of the regulatory framework, quality design, and enactment of a general rare disease policy, as well as the alignment of medical, organizational, and technological aspects in accordance with the long-term public healthcare objectives. Conclusions The establishment of a rare disease ecosystem in Slovenia and probably elsewhere, including a national rare disease registry, would represent an important improvement for patients, as it could significantly contribute to more coordinated healthcare treatment and enable comprehensive monitoring of the treatment process and results. A well-organized rare disease ecosystem could bring considerable benefits to healthcare system managers by providing a useful platform for estimating the required resources, evidence-informed policymaking, technological innovation, and organizational restructuring. This research provides valuable insight into the background of the issues that many countries face in the field of rare diseases, and ultimately provides practical recommendations for...

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An overview of the impact of rare disease characteristics on research methodology

Cited by 65 publications

References 27 publications

Objectivity in rare disease research: A philosophical approach

Objectivity in rare disease research: A philosophical approach

Human germline genome editing is illegal in Canada, but could it be desirable for some members of the rare disease community?

Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia

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