Abstract

CARRERO VALENZUELA, Roque Daniel  and  ANTELO, Tristán Adolfo. BIOETHICAL AND LEGAL ASPECTS OF GENETIC RESEARCH IN UNDERAGE MEMBERS OF A FAMILY WITH X-LINKED ADRENOLEUKODYSTROPHY FROM TUCUMÁN, ARGENTINA. rev.latinoam.bioet. [online]. 2010, vol.10, n.1, pp.106-113. ISSN 1657-4702.

Human Genetics development has furnished Medicine with potent resources to investigate changes in genetic material underneath a host of diseases in individual patients and their families. Such a diagnostic capability usually exceeds greatly the capability of specific therapeutic intervention, so its medical usefulness lies in perfecting the diagnosis, estimating the clinical prognosis and calculating the risk of recurrence among future sibs and children of a certain patient; on the other hand, the patient and/or his/her family usually look into genetic diagnosis for a certainty that enables them to limit their anxiety. In Pediatrics, the majority consensus is that children may be submitted to genetic research with diagnostic purposes, that predictive research might be done if the disease in question is amenable of a medically beneficial intervention during childhood, and that carrier state determination should be deferred until the patient reaches maturity and competence. The goal of this work is to review bioethical and legal aspects of the genetic investigation of a Tucumanian family segregating a mutation for X-linked adrenoleukodystrophy, in which for various reasons underage individuals were studied. We discuss the nature of the disease, the fact that three of the research subjects were underage, the proactive role of the family in the decision-making process leading to research those members, and the local existence of a specific legal frame for this intervention.

Keywords : Pediatric Genetic Diagnosis; Predictive Genetic Investigation; Genetic Carrier Identification; Genetics; Bioethics; the Law.

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