Update in Clinical Genetics and Metabolics

  • Christine M. ArmourEmail author
  • Matthew A. Lines


Clinical genetics has undergone unprecedented change in recent years. The increasing sophistication of genetic testing and the accelerating tempo of disease gene discovery are greatly improving rates of successful clinical diagnosis for many patients. New, powerful techniques such as whole-exome sequencing have made it possible to identify all or most of the protein-coding genetic variants in an individual. At the same time, a great deal has been learned about the clinical spectra of many genetic syndromes; in particular, the mild or non-classical presentations of many disorders are becoming increasingly recognized. The field of metabolics has seen rapid progress due to the adoption in many industrialized countries of mass-spectrometry-based expanded newborn screening. The roles of hematopoietic stem cell and solid organ transplantation in the treatment of metabolic disorders continue to expand. The role of gene therapy, which is currently available for selected disorders, continues to expand, and is likely to play an increasingly prominent role in the future.


Chromosomal microarray Syndrome Whole exome sequencing Next generation sequencing Autism/developmental delay/intellectual disability Congenital anomalies Inborn errors of metabolism Newborn screening Enzyme replacement therapy Hematopoietic stem cell transplantation/solid organ transplantation 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Regional Genetics UnitChildren’s Hospital of Eastern OntarioOttawaCanada
  2. 2.Metabolics, Department of PediatricsChildren’s Hospital of Eastern OntarioOttawaCanada

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