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

Sabina Gainotti, Deborah Mascalzoni, Virginie Bros-Facer, Carlo Petrini, Giovanna Floridia, Marco Roos, Marco Salvatore and Domenica Taruscio
Additional contact information
Sabina Gainotti: Bioethics Unit, Istituto Superiore di Sanità, 00161 Rome, Italy
Deborah Mascalzoni: Centre for Research Ethics & Bioethics (CRB), University of Uppsala, 751 05 Uppsala, Sweden
Virginie Bros-Facer: EURORDIS-Rare Diseases Europe, 75014 Paris, France
Carlo Petrini: Bioethics Unit, Istituto Superiore di Sanità, 00161 Rome, Italy
Giovanna Floridia: Bioethics Unit, Istituto Superiore di Sanità, 00161 Rome, Italy
Marco Roos: Leiden University Medical Centre, 2333 Leiden, The Netherlands
Marco Salvatore: National Center for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy
Domenica Taruscio: National Center for Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy

IJERPH, 2018, vol. 15, issue 10, 1-16

Abstract: 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.

Keywords: undiagnosed rare diseases; diagnostic odyssey; next generation sequencing; deep phenotyping; genomic matchmaking; secondary findings; patient involvement (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2018
References: View complete reference list from CitEc
Citations: View citations in EconPapers (2)

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