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Ethical aspects on rare diseases
Luis A Barrera1, Gilberto Cely Galindo
1Instituto de Errores Innatos del Metabolismo, Pontificia Universidad Javeriana, Carrera 7 No 43-86, Bogota, Colombia. abarrera@javeriana.edu.co
Insights
This chapter addresses ethical challenges in rare diseases, including patient exclusion, diagnostic dilemmas, and orphan drug access. It proposes solutions for vulnerable populations and research ethics.
Area of Science:
- Medical Ethics
- Rare Diseases
- Public Health
Background:
- Rare diseases present unique ethical challenges, impacting patients and families with socio-psychological issues, marginalization, and exclusion from health programs.
- Ethical considerations are crucial in diagnosis, including newborn screening, prenatal and pre-implantation genetic diagnosis, and the functioning of reference centers.
Purpose of the Study:
- To comprehensively discuss the multifaceted ethical issues surrounding rare diseases.
- To propose solutions for critical situations and ensure ethical conduct in research and healthcare for rare disease patients.
Main Methods:
- Literature review and ethical analysis of key topics in rare disease management.
- Discussion of socio-psychological impacts, diagnostic ethics, orphan drug accessibility, and research governance.
Main Results:
- Identified significant ethical concerns in rare disease diagnosis, treatment access, and patient support.
- Highlighted the need for ethical frameworks in research involving vulnerable populations, including informed consent and data privacy.
Conclusions:
- Ethical considerations are paramount throughout the rare disease patient journey, from diagnosis to research.
- Addressing ethical issues requires a multi-pronged approach involving healthcare providers, policymakers, and researchers to ensure equitable care and advance scientific understanding.
Abstract:
In this chapter we discuss several of the most relevant subjects related to ethics on Rare Diseases. Some general aspects are discussed such as the socio-psychological problems that confront the patients and their families that finally lead to marginalization and exclusion of patients affected by these diseases from the health programs, even in wealthy countries. Then we address problems related to diagnosis and some ethical aspects of newborn screening, prenatal, pre-implantation diagnosis and reference centers, as well as some conditions that should be met by the persons and institutions performing such tasks. Alternatives of solutions for the most critical situations are proposed. Subsequently the orphan drugs subject is discussed not only from the availability point of view, prizes, industrial practices, and purchasing power in developed and developing societies. The research related to rare disease in children and other especially vulnerable conditions, the need for informed consent, review boards or ethics comities, confidentiality of the information, biobanks and pharmacogenetics are discussed.
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