Arrogance-Based Medicine: Guidelines Regarding Genetic Testing in Children

摘要

Genetic investigations and technologies have developed at an astonishing pace: Yesterday's innovation has become today's standard of care. In theory, the development and deployment of these investigations in pediatrics should follow "the best interest of children." In practice, this is not always the case. Genetic technology has advanced so rapidly that experts are now debating whether, when whole exome or whole genome sequencing (WGS) is done in pediatric practice, parents ought to be informed about some conditions the child may develop in adult life. The American College of Medical Genetics and Genomics (ACMG) has recently recommended that laboratories should indeed analyze and interpret children's genetic data looking for 24 adult-onset diseases (Green et al. 2013; Incidental findings 2013). Other experts disagree (Clayton et al. 2014).We naively wonder, in some clinical circumstances, whether new precise genetics tests should be requested at all.