罕见疾病，如今数据也罕见？ - Suppr

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Rare diseases and now rare data?

作者信息

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

机构信息

EURAC research, Center for Biomedicine, Bioethics, ELSI, Bolzano, Italy.

出版信息

Nat Rev Genet. 2013 Jun;14(6):372. doi: 10.1038/nrg3494.

DOI:10.1038/nrg3494

PMID:23821785

Abstract

摘要

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相似文献

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[Research in health and personal data: the new situation].

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[The EU’s General Data Protection Regulation has two faces].

Tidsskr Nor Laegeforen. 2019 Mar 31;139(7). doi: 10.4045/tidsskr.19.0166. Print 2019 Apr 9.

Health research, data protection, and the public interest in notification.

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Nature. 2020 Aug;584(7822):498. doi: 10.1038/d41586-020-02454-7.

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J Law Med Ethics. 2018 Mar;46(1):119-129. doi: 10.1177/1073110518766026. Epub 2018 Mar 27.

Freedom of Information Act: scalpel or just a sharp knife?

J Med Ethics. 2017 Jan;43(1):60-62. doi: 10.1136/medethics-2016-103609. Epub 2016 Oct 18.

Protection of Personal Information Act No. 4 of 2013: Implications for biobanks.

S Afr Med J. 2019 Mar 29;109(4):232-234. doi: 10.7196/SAMJ.2019.v109i4.13617.

Tissue banking, patient rights, and confidentiality: tensions in law and policy.

Med Law. 2004;23(1):39-49.

Anonymising and sharing individual patient data.

BMJ. 2015 Mar 20;350:h1139. doi: 10.1136/bmj.h1139.

引用本文的文献

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review.

Front Public Health. 2023 Sep 15;11:1214766. doi: 10.3389/fpubh.2023.1214766. eCollection 2023.

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BMC Med Ethics. 2022 Oct 29;23(1):104. doi: 10.1186/s12910-022-00848-y.

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BMC Med Inform Decis Mak. 2021 Feb 18;21(1):65. doi: 10.1186/s12911-021-01435-8.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20.

PedAM: a database for Pediatric Disease Annotation and Medicine.

Nucleic Acids Res. 2018 Jan 4;46(D1):D977-D983. doi: 10.1093/nar/gkx1049.

eRAM: encyclopedia of rare disease annotations for precision medicine.

Nucleic Acids Res. 2018 Jan 4;46(D1):D937-D943. doi: 10.1093/nar/gkx1062.

Sharing health-related data: a privacy test?

NPJ Genom Med. 2016 Aug 17;1(1):160241-160246. doi: 10.1038/npjgenmed.2016.24.

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Appl Transl Genom. 2014 Apr 18;3(2):23-9. doi: 10.1016/j.atg.2014.04.003. eCollection 2014 Jun 1.

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Eur J Hum Genet. 2016 Nov;24(11):1553-1558. doi: 10.1038/ejhg.2016.52. Epub 2016 May 25.

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G3 (Bethesda). 2013 Aug 7;3(8):1203-4. doi: 10.1534/g3.113.007443.

本文引用的文献

Where should we draw the line between quality of care and other ethical concerns related to medical registries and biobanks?

Theor Med Bioeth. 2012 Aug;33(4):313-23. doi: 10.1007/s11017-012-9229-x.

The tension between data sharing and the protection of privacy in genomics research.

Annu Rev Genomics Hum Genet. 2012;13:415-31. doi: 10.1146/annurev-genom-082410-101454. Epub 2012 Mar 9.

Data sharing in genomics--re-shaping scientific practice.

Nat Rev Genet. 2009 May;10(5):331-5. doi: 10.1038/nrg2573.