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Update in Pediatrics pp 369–390Cite as

Update in Clinical Genetics and Metabolics

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Abstract

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.

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Authors and Affiliations

  1. Regional Genetics Unit, Children’s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada

    Christine M. Armour M.D., M.Sc., F.R.C.P.C

  2. Metabolics, Department of Pediatrics, Children’s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada

    Matthew A. Lines M.D, F.R.C.P.C., F.C.C.M.G

Authors
  1. Christine M. Armour M.D., M.Sc., F.R.C.P.C
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  2. Matthew A. Lines M.D, F.R.C.P.C., F.C.C.M.G
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Correspondence to Christine M. Armour M.D., M.Sc., F.R.C.P.C .

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Editors and Affiliations

  1. Chief/Medical Director of Pediatrics at Quinte Health Care, Assistant Professor at Queen’s University, Belleville, Ontario, Canada

    Shalea Piteau

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Armour, C.M., Lines, M.A. (2018). Update in Clinical Genetics and Metabolics. In: Piteau, S. (eds) Update in Pediatrics. Springer, Cham. https://doi.org/10.1007/978-3-319-58027-2_14

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  • DOI: https://doi.org/10.1007/978-3-319-58027-2_14

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