Rare diseases and now rare data?

Mascalzoni, Deborah; Knoppers, Bartha Maria; Aymé, Ségolène; Macilotti, Matteo; Dawkins, Hugh; Woods, Simon; Hansson, Mats

doi:10.1038/nrg3494

Cited by 21 publications

(15 citation statements)

References 3 publications

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“…Privacy has been identified as “The Issue” around which researchers have assessed the ethical and legal dimensions of data and sample collection. Privacy has therefore played a dominant role in the regulation of biobanks and registries, and has been the focus of many restrictions; as such, privacy has often been conceived of as a barrier to research and development ( Mascalzoni et al, 2013 , Hansson et al, 2013 ). Many countries have enacted regulations that require specific consent for the use of data in research.…”

Section: Discussion: Privacy As a Barrier To Quality Researchmentioning

confidence: 99%

“…Many countries have enacted regulations that require specific consent for the use of data in research. LIBE hopes to change a current EU proposal by introducing an exception that would prohibit secondary use of existing data without explicit consent ( Mascalzoni et al, 2013 ). This exception could drastically reduce researchers' reliance on existing resources, which were, in large, collected in the past under the purview of different regulations.…”

Section: Discussion: Privacy As a Barrier To Quality Researchmentioning

confidence: 99%

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Rare disease research: Breaking the privacy barrier

Mascalzoni

Paradiso²,

Hansson

2014

Applied & Translational Genomics

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Due to the few patients affected, rare disease research has to count on international registries to exist in order to produce significant research outputs. Data sharing of registries is therefore a unique resource to allow rare disease research to flourish and any lost data will jeopardize the quality of an already extremely difficult research. The rules usually applied to research such as the right to withdraw or the need for specific consent for every use of data can be detrimental in order to get effective results. Privacy rights regulated through traditional informed consent mechanisms have been regarded as a major barrier in order to effectively share data worldwide. Some authors argue that this barrier hampers results that could be beneficial to the patients so that another right will be overstated: the right to quality healthcare. We argue in this paper that privacy has been often interpreted just one-sided as the right to secrecy but it can entail another meaning: the right to manage one's own private sphere. Managing it pertains, not only to the right to deny access, but also to the right to grant access. At the same time research on patient participation and transparency shows that new forms of IT-based informed consent can provide a good balance between the right of individuals to be in control of their data and the opportunity for science to pursue international research.

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Section: Discussion: Privacy As a Barrier To Quality Researchmentioning

confidence: 99%

Section: Discussion: Privacy As a Barrier To Quality Researchmentioning

confidence: 99%

Rare disease research: Breaking the privacy barrier

Mascalzoni

Paradiso²,

Hansson

2014

Applied & Translational Genomics

Self Cite

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“…目前, 罕见疾病没有统一、广泛被接受的定义, 罕见疾病在不同人群中的患病率有所不同 [14] . 为了促进更好的定义、数据共享和罕见疾病的诊断, 需要不同国家之间进行长期的合作 [15] . 为此, 我们整合了来自四个国际权威数据库: Orphanet [16] 、MalaCards(罕见疾病类别) [17] 、NIH遗传罕见疾病(NGRD)(https://sen- [22] .…”

Section: 罕见病定义与收集unclassified

A multi-omics annotation platform for rare disease to benefit precision medicine

Jia

Ming

et al. 2018

Sci. Sin.-Vitae

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A multi-omics integrated study deciphers biology of the rumen and lipid metabolism SCIENCE CHINA Life Sciences 57, 951 (2014); Recent progress in convergent molecular evolution of animals based on multi-omics studies SCIENTIA SINICA Vitae 49, 874 (2019); A method for mining core modules of cancer based on multi-omics biological network SCIENTIA SINICA Informationis 47, 1510 (2017); Research progress in biosynthesis and synthetic biology of active ingredients of Scutellaria baicalensis Georgi based on multi-omics approach SCIENTIA SINICA Vitae A quantitative benefit evaluation of code search platform for enterprises

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“…Consequently, there is a special and well-documented need for research collaboration so that data and biosamples from multiple independent studies can be shared across borders. 8, 9, 10 The two data sets of clinical data and biospecimen data are critical for understanding the pathogenesis and the management of diseases, both common and rare. In relation to empowering clinical diagnosis of diseases and clinical discovery of disease mechanisms, and possible therapies, there are several scenarios where the absence of a re-identification method such as a unique identifier, of data or samples potentially put patients at risk.…”

Section: The Importance Of Identifying Individualsmentioning

confidence: 99%

The risk of re-identification versus the need to identify individuals in rare disease research

et al. 2016

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There is a growing concern in the ethics literature and among policy makers that de-identification or coding of personal data and biospecimens is not sufficient for protecting research subjects from privacy invasions and possible breaches of confidentiality due to the possibility of unauthorized re-identification. At the same time, there is a need in medical science to be able to identify individual patients. In particular for rare disease research there is a special and well-documented need for research collaboration so that data and biosamples from multiple independent studies can be shared across borders. In this article, we identify the needs and arguments related to de-identification and re-identification of patients and research subjects and suggest how the different needs may be balanced within a framework of using unique encrypted identifiers.

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Rare diseases and now rare data?

Cited by 21 publications

References 3 publications

Rare disease research: Breaking the privacy barrier

Rare disease research: Breaking the privacy barrier

A multi-omics annotation platform for rare disease to benefit precision medicine

The risk of re-identification versus the need to identify individuals in rare disease research

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