Innovation for rare diseases and bioethical concerns: A thin thread between medical progress and suffering

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

Figure 1

The timeline of David’s life paralleled by the most significant advances in understanding and treating X-severe combined immunodeficiency. SCID: Severe combined immunodeficiency; BMT: Bone marrow transplantation; HLA: Histocompatibility leukocyte antigen; EBV: Epstein-Barr virus; NASA: National Aeronautics and Space Administration.

Figure 2

The timeline of Khaled’s life paralleled by the most significant advances in understanding and treating Beta thalassemia major. BMT: Bone marrow transplantation; HCV: Hepatitis C virus; HIV: Human immunodeficiency virus; HAART: Highly active antiretroviral therapy.

Figure 3

The timeline of Alessandro’s life paralleled by the most significant advances in understanding and treating spinal muscular atrophy 1. NIV: Non-invasive ventilation; EAP: Expanded access program.