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Interpreting Genomic Reports

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Genomic Medicine

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Abstract

Interpretation of genomic tests is fundamentally different from other molecular tests typically ordered to analyze individual mutations. Genomic tests cover several or most genes (gene panels), the exome, or the whole genome and have the potential to identify multiple variants. To avoid errors in interpretation, clinicians need to familiarize themselves with the report format and understand each section of the report. In this chapter, we provide a description on the molecular pathology report format and a quick guide on how to interpret genomic reports for germline (inherited) mutations and somatic (acquired) mutations.

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Abbreviations

ACMGG:

         American College of Medical Genetics and Genomics

AMP:

         Association for Molecular Pathology

Genomic test:

         A laboratory test that interrogates numerous genes or regions of genes at the same time

HGNC:

         HUGO International Ltd. Gene Nomenclature Committee

HUGO:

         Human Genome Organisation

Next generation sequencing (NGS):

 A diagnostic tool to determine the genetic sequence of numerous genes or regions of genes at the same time

VUS:

         Variant of unknown significance

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Author information

Authors and Affiliations

  1. Joint Pathology Center, Molecular Diagnostics Laboratory, Silver Spring, MD, USA

    Alejandro Luiña Contreras

Authors
  1. Alejandro Luiña Contreras
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Correspondence to Alejandro Luiña Contreras .

Editor information

Editors and Affiliations

  1. Dartmouth–Hitchcock Medical Center, Lebanon, NH, USA

    Laura J. Tafe

  2. Memorial Sloan Kettering Cancer Center, New York, NY, USA

    Maria E. Arcila

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Contreras, A.L. (2020). Interpreting Genomic Reports. In: Tafe, L., Arcila, M. (eds) Genomic Medicine. Springer, Cham. https://doi.org/10.1007/978-3-030-22922-1_5

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  • DOI: https://doi.org/10.1007/978-3-030-22922-1_5

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-22921-4

  • Online ISBN: 978-3-030-22922-1

  • eBook Packages: MedicineMedicine (R0)

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