RESUMEN
En el presente trabajo se analiza la sentencia del Tribunal Supremo de los Estados Unidos (13 de junio de 2013) sobre la patentabilidad de los genes humanos en el caso promovido en contra de las patentes que la compañía Myriad Genetics tiene sobre los genes BRCA1 Y BRCA2 relacionados con la susceptibilidad o predisposición de las mujeres al cáncer de mama y al cáncer de ovario. Se analiza la situación legal en la Unión Europea y en España (AU)
In the present work, the opinion of the Supreme Court of the United States (13 June 2013) on patentability of human genes is analyzed (No. 12-398, Association for Molecular Pathology et ál. V Myriad Genetics, Inc. et ál) in relation to the BRCA1 and BRCA2 genes which predispose women t breast cancer and ovarian cancer. The legal status in the European Union and in Spain is also analyzed (AU)
Asunto(s)
Humanos , Femenino , Patentes como Asunto/legislación & jurisprudencia , Genes BRCA1/ética , Genes BRCA2/ética , Predisposición Genética a la Enfermedad , Neoplasias de la Mama/genéticaRESUMEN
Persons exhibiting mutations in two tumor suppressor genes, BRCA1 and BRCA2, have a greatly increased risk of developing breast and/or ovarian cancer. The incidence of BRCA gene mutation is very high in Ashkenazi Jewish women of European descent, and many issues can arise, particularly for observant Orthodox women, because of their genetic status. Their obligations under the Jewish code of ethics, referred to as Jewish law, with respect to the acceptability of various risk-reducing strategies, may be poorly understood. In this article the moral direction that Jewish law gives to women regarding testing, confidentiality, and other issues is explored. The intent is to broaden nurses' knowledge of how a particular religious tradition could impact on decision making around genetics testing, with the aim of enhancing their understanding of culturally sensitive ethical care.
Asunto(s)
Genes BRCA1/ética , Genes BRCA2/ética , Pruebas Genéticas/ética , Judíos/genética , Judaísmo , Salud de la Mujer/ética , Adulto , Actitud Frente a la Salud/etnología , Neoplasias de la Mama/genética , Códigos de Ética , Confidencialidad/ética , Toma de Decisiones/ética , Femenino , Tamización de Portadores Genéticos , Predisposición Genética a la Enfermedad/etnología , Predisposición Genética a la Enfermedad/genética , Humanos , Consentimiento Informado/ética , Consentimiento Informado/psicología , Israel , Judíos/etnología , Judaísmo/psicología , Mutación/genética , Rol de la Enfermera , Neoplasias Ováricas/genética , Religión y Medicina , Salud de la Mujer/etnologíaRESUMEN
Medical geneticists must generate a differential diagnosis, practice evidence-based medicine, and apply ethical, legal, and social issue (ELSI) principles in the clinical setting. Several clinical scenarios are presented which illustrate dilemmas in the cancer genetics setting. These include the differential diagnosis of breast and gastric cancer, and the predicament posed by the need to practice evidence-based medicine in light of limitations in the medical genetics literature, which may mean recommending prophylactic surgery. Also discussed are three BRCA1/2 genetic testing scenarios which illustrate the difficulty of knowing where to "draw the line", i.e., when to offer testing and what level of testing to pursue. Decision-making about BRCA1/2 gene testing including Ashkenazi Jewish founder mutation testing, comprehensive reflex testing, and expedited testing, is explored. The duty to recontact as standard of care evolves requires that medical geneticists determine how to prospectively set expectations with patients as well as to decide which situations require recontact and to determine how to systematically do so. The case of patient recontact regarding new mutation detection techniques with improved sensitivity, e.g., BART testing which is based on the ability to detect large BRCA1/2 rearrangements, is discussed. General principles are highlighted so that these specific cases can be extrapolated to other genes and hereditary conditions by medical geneticists, genetic counselors, and others practicing in the field of cancer genetics.
Asunto(s)
Asesoramiento Genético/ética , Genética Médica/ética , Rol del Médico , Responsabilidad Social , Anciano , Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/genética , Neoplasias de la Mama/prevención & control , Neoplasias de la Mama/psicología , Correspondencia como Asunto , Diagnóstico Diferencial , Deber de Recontacto , Medicina Basada en la Evidencia/ética , Femenino , Genes BRCA1/ética , Genes BRCA2/ética , Genética Médica/tendencias , Humanos , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/prevención & control , Síndromes Neoplásicos Hereditarios/psicología , Linaje , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/genética , Neoplasias Gástricas/prevención & control , Procedimientos Quirúrgicos Operativos/éticaRESUMEN
Prenatal testing for a BRCA mutation, the hereditary trait for mammary and ovarian carcinoma, with the intention of selective termination of pregnancy in case of a female carrier is a controversial ethical issue. Based on a review of the (limited) medical literature as well as of Dutch policy statements relating to this subject, the following conclusions and recommendations are proposed: (a) the decision to opt for prenatal BRCA testing and selective termination of pregnancy in case of a BRCA mutation in the foetus cannot immediately be judged unacceptable from an ethical point of view; (b) prenatal BRCA testing is morally defensible only in case of a female foetus and if the parents at least have the intention to terminate the pregnancy if the foetus is a carrier, although the final decision is in any case up to the parents only; (c) prental testing for a BRCA mutation should only be done after extensive counselling of the parents, during which not only the medical genetic aspects but also the ethical aspects of prenatal BRCA testing are discussed.