Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.
Hadley Stevens SmithJohn M SwintSeema R LalaniMarcia C de Oliveira OttoJose-Miguel YamalHeidi V RussellBrendan H LeePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
ES did not differ from status quo genetic testing collectively in terms of diagnostic yield or patient survival; however, it had high yield as a single test, led to complementary classes of diagnoses, and was associated with higher costs. Further work is needed to define the most efficient use of diagnostic ES for critically ill newborns and infants.