Sources of unease about the use of genome sequencing for diagnosing rare diseases in children

There is a mystery surrounding the uptake of genome sequencing (GS) as a diagnostic tool in critical care pediatrics. On the one hand, GS offers the promise of quicker and more precise diagnoses of rare diseases in children than is possible with other technologies.1 This allows the possibility of innovative and personalized treatment for children with mysterious ailments.2 Furthermore, some studies suggest that such testing, although expensive, actually saves money.3 Fears that ambiguous results would lead to increased anxiety and depression among parents have been shown by careful study to be exaggerated.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: Editorials Source Type: research