Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

Discussion: Importantly, whereas clinical significance is often only attributed to a conclusive diagnosis, we also observed impact on clinical decision-making for individuals in whom no genetic diagnosis was established. Hence, our experience shows that rES has an important role for patients of all ages and across the broad spectrum of rare diseases to impact clinical outcomes.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research