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

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MARC

Gainotti, SabinaIst Super Sanita, Bioeth Unit, I-00161 Rome, Italy (author)

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

Article/chapterEnglish2018

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2018-09-21
MDPI,2018
electronicrdacarrier

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LIBRIS-ID:oai:DiVA.org:uu-369951
https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-369951URI
https://doi.org/10.3390/ijerph15102072DOI

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Language:English
Summary in:English

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Subject category:for swepub-publicationtype

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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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Hälsovetenskap Omvårdnad hsv//swe
MEDICAL AND HEALTH SCIENCES Health Sciences Nursing hsv//eng
undiagnosed rare diseases
diagnostic odyssey
next generation sequencing
deep phenotyping
genomic matchmaking
secondary findings
patient involvement

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Mascalzoni, Deborah,1973-Uppsala universitet,Centrum för forsknings- och bioetik(Swepub:uu)debma696 (author)
Bros-Facer, VirginieEURORDIS Rare Dis Europe, F-75014 Paris, France (author)
Petrini, CarloIst Super Sanita, Bioeth Unit, I-00161 Rome, Italy (author)
Floridia, GiovannaIst Super Sanita, Bioeth Unit, I-00161 Rome, Italy (author)
Roos, MarcoLeiden Univ, Med Ctr, NL-2333 Leiden, Netherlands (author)
Salvatore, MarcoIst Super Sanita, Natl Ctr Rare Dis, I-00161 Rome, Italy (author)
Taruscio, DomenicaIst Super Sanita, Natl Ctr Rare Dis, I-00161 Rome, Italy (author)
Ist Super Sanita, Bioeth Unit, I-00161 Rome, ItalyCentrum för forsknings- och bioetik (creator_code:org_t)

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In:International Journal of Environmental Research and Public Health: MDPI15:101661-78271660-4601

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