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Related Experiment Videos

The Oncormed approach to genetic testing.

C L Carter1, J A Scott, P M Glauber

  • 1Oncormed, Inc., Gaithersburg, MD 20877, USA.

Genetic Testing
|January 1, 1997
PubMed
Summary
This summary is machine-generated.

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A commercial lab developed a new genetic testing protocol for hereditary breast/ovarian cancer. This IRB-approved approach efficiently detects BRCA1 mutations using phased analysis across multiple clinical sites.

Area of Science:

  • Genetics
  • Oncology
  • Clinical Diagnostics

Background:

  • Hereditary breast and ovarian cancer syndromes are often linked to BRCA1 mutations.
  • Accurate and accessible genetic testing is crucial for identifying at-risk individuals.
  • Commercial laboratories play a key role in expanding genetic testing accessibility.

Purpose of the Study:

  • To describe a novel, IRB-approved protocol for BRCA1 mutation detection in a commercial laboratory setting.
  • To evaluate the implementation and yield of this phased genetic testing approach.
  • To provide data on mutation detection rates based on family history and testing stage.

Main Methods:

  • Implementation of institutional review board (IRB)-approved protocols in a commercial laboratory.

Related Experiment Videos

  • A phased genetic testing strategy including allele-specific oligonucleotide assays for common mutations.
  • Protein truncation testing of exon 11 and direct sequencing for comprehensive gene analysis.
  • Data collection from 32 clinical sites over a 6-month period.

    • Main Results:

    • The phased approach successfully identified BRCA1 mutation carriers.
    • Data demonstrated the yield of mutation detection across different stages of analysis.
    • Analysis of mutation carrier rates by family history categories was presented.

    Conclusions:

    • The described IRB-approved protocol provides a viable model for commercial genetic testing of BRCA1 mutations.
    • Phased testing strategies can efficiently detect mutations in hereditary breast/ovarian cancer patients.
    • This approach enhances the capacity for genetic screening in clinical settings.