Preprint Article Version 1 This version is not peer-reviewed

Is There a Right to Get a Right Diagnosis Whenever Possible? Ethical and Social Issues in Dealing with Undiagnosed Rare Diseases

Version 1 : Received: 30 May 2018 / Approved: 31 May 2018 / Online: 31 May 2018 (09:35:32 CEST)

How to cite: Gainotti, S.; Mascalzoni, D.; Bros Facer, V.; Petrini, C.; Floridia, G.; Roos, M.; Salvatore, M.; Taruscio, D. Is There a Right to Get a Right Diagnosis Whenever Possible? Ethical and Social Issues in Dealing with Undiagnosed Rare Diseases. Preprints 2018, 2018050463 (doi: 10.20944/preprints201805.0463.v1). Gainotti, S.; Mascalzoni, D.; Bros Facer, V.; Petrini, C.; Floridia, G.; Roos, M.; Salvatore, M.; Taruscio, D. Is There a Right to Get a Right Diagnosis Whenever Possible? Ethical and Social Issues in Dealing with Undiagnosed Rare Diseases. Preprints 2018, 2018050463 (doi: 10.20944/preprints201805.0463.v1).

Abstract

The time required to reach a correct diagnosis is one of the most important problems for rare disease (RD) patients. Diagnostic delay can be intolerably long, to the point that it is usually described as a “diagnostic odyssey” and, sometimes, a diagnosis might never occur. 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 if the disorder is known, and to enter a globally coordinated diagnostic and research pipeline for the unsolved cases. 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. This approach is very fruitful as, according to the Orphanet database, from 2010 to March 2017 more than 600 new RDs have been described and about 3600 genes linked to RDs have been identified. However, combination of -omics and phenotype data and international sharing of this information raise 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 maximise 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 relation between individual patients and physicians, and between the patient community and the scientific community is critically important for making the best use of available data and combining efforts in the search for matches with similar cases worldwide that will help to solve unsolved cases. The contribution of patients to collecting and coding data comprehensively is critical for efficient use of data downstream of data collection.

Subject Areas

undiagnosed rare diseases; diagnostic odyssey; NGS; deep phenotyping; genomic matchmaking; secondary findings; patient involvement

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our diversity statement.

Leave a public comment
Send a private comment to the author(s)
Views 0
Downloads 0
Comments 0
Metrics 0


×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.