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Ethical Aspects on Rare Diseases

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Rare Diseases Epidemiology

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 686))

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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Author information

Authors and Affiliations

  1. Instituto de Errores Innatos del Metabolismo, Pontificia Universidad Javeriana, Carrera 7 No 43-86, Bogota, Colombia

    Luis A. Barrera

  2. Director Instituto de Bioetica, Bogotá, DC, Colombia

    Gilberto Cely Galindo B.Phil & Theo, MSc

Authors
  1. Luis A. Barrera
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  2. Gilberto Cely Galindo B.Phil & Theo, MSc
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Corresponding author

Correspondence to Luis A. Barrera .

Editor information

Editors and Affiliations

  1. , Instituto de Investigaciñon en Enfermeda, Instituto de Salud Carlos III, Monforte de Lemos 5, Madrid, 28029, Spain

    Manuel Posada de la Paz

  2. , Office of Rare Diseases Research, National Institutes of Health, Executive Boulevard 6100, Bethesda, 20892-7518, USA

    Stephen C. Groft

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Barrera, L.A., Galindo, G.C. (2010). Ethical Aspects on Rare Diseases. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_27

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