Editorial
Copyright ©The Author(s) 2018. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Pediatr. Aug 30, 2018; 7(3): 75-82
Published online Aug 30, 2018. doi: 10.5409/wjcp.v7.i3.75
Innovation for rare diseases and bioethical concerns: A thin thread between medical progress and suffering
Alberto Tommasini, Andrea Magnolato, Irene Bruno
Alberto Tommasini, Andrea Magnolato, Irene Bruno, Department of Pediatrics, Institute of Maternal and Child Health, IRCCS Burlo Garofolo, Trieste 34137, Italy
Author contributions: Tommasini A conceived the idea and wrote the manuscript draft; Magnolato A described and discussed the third clinical case and corrected the manuscript; Bruno I supervised and approved the work.
Supported by the IRCCS Burlo Garofolo, grant No. RC24/17.
Conflict-of-interest statement: The authors declare that they have no conflict of interest concerning the present article.
Open-Access: This article is an open-access article, which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Alberto Tommasini, MD, PhD, Adjunct Professor, Medical Assistant, Senior Scientist, Department of Pediatrics, Institute of Maternal and Child Health, IRCCS Burlo Garofolo, via dell’Istria 65/1, Trieste 34137, Italy. alberto.tommasini@burlo.trieste.it
Telephone: +39-40-3785422
Received: June 27, 2018
Peer-review started: June 30, 2018
First decision: July 9, 2018
Revised: August 6, 2018
Accepted: August 12, 2018
Article in press: August 13, 2018
Published online: August 30, 2018
Processing time: 64 Days and 20.4 Hours
Abstract

With the development of precision medicines based on small molecules, antibodies, RNAs and gene therapy, technological innovation is providing some exciting possibilities to treat the most severe genetic diseases. However, these treatments do not always lead to a cure for the disease, and there are several factors that may hinder their overall success. Patients living during a period of great medical change and innovation may benefit from these technological advances but may also just face failures, both in terms of frustrated hopes as well as suffering. In this article, we are telling the stories of three children with rare and severe disorders, who live in an age of significant medical changes, bearing the burden of difficult scientific and ethical choices. The first two cases that are suffering respectively from severe immunodeficiency and beta thalassemia have already been described in scientific journals, as well as in popular magazines. Although similar when considering the medical challenges, the two cases had opposite outcomes, which resulted in distinct ethical implications. The third case is a baby with spinal muscular atrophy, living at a time of continued innovation in the treatment of the disease. With these cases, we discuss the challenges of providing correct information and proper counseling to families and patients that are making the bumpy journey on the road of medical innovation.

Keywords: X-severe combined immunodeficiency; Primary immunodeficiency; Beta thalassemia; Spinal muscular atrophy; Bioethics; History of medicine; Precision medicine; Genetics

Core tip: Precision therapies are heralded to change the prognosis of rare and severe genetic disorders. However, the new treatments are not always curative and what can be viewed on one hand as a partial improvement, on the other may result, at least for some patients, in prolonged suffering. During this period of change, great hopes but unpredictable outcomes can mark the lives of patients. Recalling and considering the ethical debates on historical cases can help doctors in giving the right advice to the families of patients with rare and severe disorders.