[Rare diseases: specific ethical and legal aspects of genetic counseling and screening]. 2011

Javier Sánchez-Caro
Consejería de Sanidad, Comunidad de Madrid, Madrid, España.

This article analyses the specific rights of patients with rare diseases from a dual perspective. On the one hand, they concern a new generation of patients' rights that arise once the consolidation of basic rights has occurred, fundamentally after the application of Law 41/2002 (on Regulating Patient Autonomy and Rights and Obligations in the Field of Health Documentation and Information) and its development by the autonomous communities. On the other hand, the fundamental question raises a serious issue related to these patients, which involves the principles of equality, equity, non-discrimination and solidarity. This is aimed at promoting legislative measures to protect patients' equality of access to health and social services, with the ultimate aim of improving their quality of life. The author has given special relevance in his study to the treatment of rare diseases that are genetic in origin, and to the importance of adequate genetic counseling.

UI MeSH Term Description Entries
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D028701 Patient Rights Fundamental claims of patients, as expressed in statutes, declarations, or generally accepted moral principles. (Bioethics Thesaurus) The term is used for discussions of patient rights as a group of many rights, as in a hospital's posting of a list of patient rights. Right to Treatment,Patient's Rights,Patients' Rights,Patient Right,Patient's Right,Patients Rights,Patients' Right,Right to Treatments,Right, Patient,Right, Patient's,Right, Patients',Rights, Patient,Rights, Patient's,Rights, Patients',Treatment, Right to,Treatments, Right to
D035583 Rare Diseases A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment. Orphan Diseases,Disease, Orphan,Disease, Rare,Orphan Disease,Rare Disease

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