RESUMEN
This paper is intended to stimulate debate amongst stakeholders in the international research community on the topic of returning individual genetic research results to study participants. Pharmacogenetics and disease genetics studies are becoming increasingly prevalent, leading to a growing body of information on genetic associations for drug responsiveness and disease susceptibility with the potential to improve health care. Much of these data are presently characterized as exploratory (non-validated or hypothesis-generating). There is, however, a trend for research participants to be permitted access to their personal data if they so choose. Researchers, sponsors, patient advocacy groups, ethics committees and regulatory authorities are consequently confronting the issue of whether, and how, study participants might receive their individual results. Noted international ethico-legal guidelines and public policy positions in Europe and the United States are reviewed for background. The authors offer 'Points-to-Consider' regarding returning results in the context of drug development trials based on their knowledge and experience. Theses considerations include: the clinical relevance of data, laboratory qualifications, informed consent procedures, confidentiality of medical information and the competency of persons providing results to participants. The discussion is framed as a benefit-to-risk assessment to balance the potential positive versus negative consequences to participants, while maintaining the integrity and feasibility of conducting genetic research studies.
Asunto(s)
Acceso a la Información/ética , Investigación Genética/ética , Sujetos de Investigación , Comités Consultivos , Bioética , Ensayos Clínicos como Asunto/normas , Ensayos Clínicos como Asunto/tendencias , Bases de Datos Genéticas , Europa (Continente) , Familia , Privacidad Genética , Investigación Genética/legislación & jurisprudencia , Guías como Asunto , Experimentación Humana/legislación & jurisprudencia , Humanos , Consentimiento Informado , Internacionalidad , Laboratorios/legislación & jurisprudencia , Laboratorios/normas , Responsabilidad Legal , Farmacogenética , Política Pública , Proyectos de Investigación , Investigadores/legislación & jurisprudencia , Medición de Riesgo , Estados UnidosRESUMEN
A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families