Una ‘curación’ para el síndrome de Down: ¿qué desean los padres? / No disponible

Los recientes avances en la genética molecular brindan la posibilidad de llegar a disponer de una terapéutica o una ‘curación’ para el síndrome de Down. Pero no disponemos de datos sobre cómo perciben los padres de niños con síndrome de Down la posibilidad de suavizar manifestaciones específicas, como es la discapacidad intelectual, o de curar por completo el síndrome. Para explorar estos temas, distribuimos un cuestionario a miembros de la Lower Mainlands Down Syndrome Society en British Columbia, Canadá. Los cuestionarios fueron completados por 101 padres (tasa de respuesta: 41%). La mayoría (61%) vieron positivamente la posibilidad de revertir la discapacidad intelectual en el síndrome de Down, pero sólo el 41% dijeron que ‘curarían’ a su hijo si fuera posible. El 27% dijeron que no ‘curarían’, y el 32% no estaba seguro si lo harían. La motivación más frecuentemente citada para optar por una ‘curación’ fue la de aumentar la independencia del hijo. Sin embargo, la actitudes de los padres hacia una ‘curación’ del síndrome de Down fueron complejas, afectadas por temas éticos, por los valores percibidos en la sociedad y por factores pragmáticos como fueron la edad del individuo y el peso de la carga de la atención a largo plazo. Estos resultados ponen de manifiesto la importancia de explorar cuestiones filosóficas y éticas, en paralelo con la investigación científica que está avanzando tan rápidamente

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A 'cure' for Down syndrome: what do parents want?

Recent advancements in molecular genetics raise the possibility that therapeutics or a 'cure' for Down syndrome (DS) may become available. However, there are no data regarding how parents of children with DS perceive the possibility of mitigating specific manifestations such as the intellectual disability (ID) associated with DS, or curing the condition entirely. To explore these issues, we distributed a questionnaire to members of the Lower Mainland Down Syndrome Society in British Columbia, Canada. Questionnaires were completed by 101 parents (response rate=41%). A majority (61%) viewed the possibility of reversing ID in DS positively, but only 41% said that they would 'cure' their child of DS if it were possible. Twenty-seven percent of respondents said they would not 'cure' their child, and 32% were unsure if they would 'cure' their child. The most commonly cited motivation for opting for a 'cure' was to increase their child's independence. However, parental attitudes' towards a 'cure' for DS were complex, affected by ethical issues, perceived societal values, and pragmatic factors such as the age of the individual and long-term care-giving burden. These findings could be used by healthcare professionals supporting families who include a member with DS and to direct future research.

Incidental findings from clinical genome-wide sequencing: a review.

There are several unresolved challenges associated with the clinical application of genome-wide sequencing technologies. One of the most discussed issues is incidental findings (IF), which are defined as discoveries made as a result of genetic testing that are unrelated to the indication for the test. The discussion surrounding IF began in the context of research, which we have used to frame consideration of IF in the clinical context. There is growing consensus that analytically valid and medically actionable IF should be offered to patients, but whether and to what extent clinicians should disclose other kinds of IF is debated. While others have systematically reviewed the literature concerning genetic IF, previous reviews focus on ethical and research-related issues and do not consider the implications for the genetic counseling profession specifically. This review discusses the practical considerations, ethical concerns and genetic counseling issues related to IF, with a particular focus on clinical genome-wide sequencing. To date, the bulk of the literature with respect to IF in the clinical context consists of commentaries, reviews and case reports. There is a need for more empirical studies to provide a foundation for institutional protocols and evidence-based clinical practice standards.