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CCMG practice guideline: laboratory guidelines for next-generation sequencing.

Stacey Hume1, Tanya N Nelson2,3,4, Marsha Speevak5

  • 1Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.

Journal of Medical Genetics
|July 14, 2019
PubMed
Summary
This summary is machine-generated.

This guidance provides recommendations for Canadian clinical laboratories using next-generation sequencing (NGS) for genetic variant detection in inherited disorders and cancers. It ensures standardized and validated NGS methods for improved genetic testing services.

Keywords:
diagnostics testsgeneticsguidelinesmolecular genetics

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Area of Science:

  • Clinical Genetics
  • Molecular Diagnostics
  • Genomic Medicine

Background:

  • Next-generation sequencing (NGS) offers advanced capabilities for genetic variant detection.
  • Clinical laboratories require standardized guidelines for implementing and validating NGS technologies.
  • The Canadian College of Medical Geneticists (CCMG) identified the need for specific NGS guidance in Canada.

Purpose of the Study:

  • To provide comprehensive guidance for Canadian clinical genetic laboratories on the use of NGS.
  • To establish recommendations for developing, validating, and implementing NGS methods.
  • To cover the detection of germline variants in inherited disorders and somatic variants in cancers.

Main Methods:

  • Development of guidelines by the CCMG Ad Hoc Working Group on NGS.
  • Circulation of the draft document for comment among CCMG committees and membership.
  • Incorporation of feedback and final approval by the CCMG Board of Directors.

Main Results:

  • A set of practice guidelines for NGS implementation in Canadian clinical laboratories.
  • Recommendations tailored for the detection of genetic variants in both inherited and acquired diseases.
  • A resource for laboratories to ensure quality and standardization in NGS-based genetic testing.

Conclusions:

  • The CCMG guidelines offer a crucial resource for Canadian clinical laboratories adopting NGS.
  • Standardized NGS methods are essential for accurate genetic variant detection and reliable clinical services.
  • These guidelines support the professional and ethical standards of clinical genetics in Canada.