Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues

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Fältnamn	Indikatorer	Metadata
000		04869naa a2200493 4500
001		oai:DiVA.org:uu-369951
003		SwePub
008		181218s2018 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-3699512 URI
024	7	a https://doi.org/10.3390/ijerph151020722 DOI
040		a (SwePub)uu
041		a engb eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a for2 swepub-publicationtype
100	1	a Gainotti, Sabinau Ist Super Sanita, Bioeth Unit, I-00161 Rome, Italy4 aut
245	1 0	a Meeting Patients' Right to the Correct Diagnosis :b Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues
264		c 2018-09-21
264	1	b MDPI,c 2018
338		a electronic2 rdacarrier
520		a The time required to reach a correct diagnosis is a key concern for rare disease (RD) patients. Diagnostic delay can be intolerably long, often described as an odyssey and, for some, a diagnosis may remain frustratingly elusive. The International Rare Disease Research Consortium proposed, as ultimate goal for 2017-2027, to enable all people with a suspected RD to be diagnosed within one year of presentation, if the disorder is known. Subsequently, unsolved cases would enter a globally coordinated diagnostic and research pipeline. In-depth analysis of the genotype through next generation sequencing, together with a standardized in-depth phenotype description and sophisticated high-throughput approaches, have been applied as diagnostic tools to increase the chance of a timely and accurate diagnosis. The success of this approach is evident in the Orphanet database. From 2010 to March 2017 over 600 new RDs and roughly 3600 linked genes have been described and identified. However, combination of -omics and phenotype data, as well as international sharing of this information, has raised ethical concerns. Values to be assessed include not only patient autonomy but also family implications, beneficence, non-maleficence, justice, solidarity and reciprocity, which must be respected and promoted and, at the same time, balanced among each other. In this work we suggest that, to maximize patients' involvement in the search for a diagnosis and identification of new causative genes, undiagnosed patients should have the possibility to: (1) actively participate in the description of their phenotype; (2) choose the level of visibility of their profile in matchmaking databases; (3) express their preferences regarding return of new findings, in particular which level of Variant of Unknown Significance (VUS) significance should be considered relevant to them. The quality of the relationship between individual patients and physicians, and between the patient community and the scientific community, is critically important for optimizing the use of available data and enabling international collaboration in order to provide a diagnosis, and the attached support, to unsolved cases. The contribution of patients to collecting and coding data comprehensively is critical for efficient use of data downstream of data collection.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Hälsovetenskapx Omvårdnad0 (SwePub)303052 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Health Sciencesx Nursing0 (SwePub)303052 hsv//eng
653		a undiagnosed rare diseases
653		a diagnostic odyssey
653		a next generation sequencing
653		a deep phenotyping
653		a genomic matchmaking
653		a secondary findings
653		a patient involvement
700	1	a Mascalzoni, Deborah,d 1973-u Uppsala universitet,Centrum för forsknings- och bioetik4 aut0 (Swepub:uu)debma696
700	1	a Bros-Facer, Virginieu EURORDIS Rare Dis Europe, F-75014 Paris, France4 aut
700	1	a Petrini, Carlou Ist Super Sanita, Bioeth Unit, I-00161 Rome, Italy4 aut
700	1	a Floridia, Giovannau Ist Super Sanita, Bioeth Unit, I-00161 Rome, Italy4 aut
700	1	a Roos, Marcou Leiden Univ, Med Ctr, NL-2333 Leiden, Netherlands4 aut
700	1	a Salvatore, Marcou Ist Super Sanita, Natl Ctr Rare Dis, I-00161 Rome, Italy4 aut
700	1	a Taruscio, Domenicau Ist Super Sanita, Natl Ctr Rare Dis, I-00161 Rome, Italy4 aut
710	2	a Ist Super Sanita, Bioeth Unit, I-00161 Rome, Italyb Centrum för forsknings- och bioetik4 org
773	0	t International Journal of Environmental Research and Public Healthd : MDPIg 15:10q 15:10x 1661-7827x 1660-4601
856	4	u https://doi.org/10.3390/ijerph15102072y Fulltext
856	4	u https://uu.diva-portal.org/smash/get/diva2:1272039/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
856	4	u https://www.mdpi.com/1660-4601/15/10/2072/pdf
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-369951
856	4 8	u https://doi.org/10.3390/ijerph15102072

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