Whole genome sequencing in neonatology: what is it’s value?
Rapid whole genome sequencing and whole exome sequencing, also known as “next generation sequencing” (NGS), are increasingly recommended as the first test to diagnose infants suspected of having single gene disorders. However, the effectiveness of NGS in diagnosing or managing these conditions varies widely depending on the population and reasons for testing. Even if a genetic variant is found, it might not always predict the resulting traits or offer a reliable prognosis.
In this article, we examine the utility of this new technology and describe how these genetic results may not always change clinical care, but they can end a family’s search for answers and help with future reproductive decisions. However, the usefulness of whole genome sequencing in the neonatal intensive care unit is uncertain. This paper aims to discuss the challenges in interpreting these detailed genetic results results, particularly in the NICU setting, and suggests strategies for communicating these complexities to families.