Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism.
In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition. 2022. 147-162 (Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Second Edition)
The implementation of whole-exome sequencing (WES) in molecular diagnostics has resulted in increased understanding of the genetic basis of inborn errors of metabolism (IEM) and genotype-phenotype relationships. As a consequence, there has been acceleration in the implementation of genomics in clinical medicine. Though whole-genome sequencing (WGS) is not yet well established in routine clinical practice, increasing evidence of clinical validity and utility is moving WGS towards integration in the near future.