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Related Experiment Videos

Testing for BRCA1 mutations: a cost-effectiveness analysis.

Christine Sevilla1, Jean-Paul Moatti, Claire Julian-Reynier

  • 1INSERM U379, Paoli-Calmettes Institute, Marseilles, France.

European Journal of Human Genetics : EJHG
|October 3, 2002
PubMed
Summary

Direct DNA sequencing is not the most cost-effective BRCA1/2 test for hereditary breast cancer. Alternative strategies, combining methods like protein truncation test and heteroduplex analysis, offer significant cost savings.

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Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Breast carcinoma is a leading cancer in women, with 5-10% of cases being hereditary, primarily linked to BRCA1/BRCA2 mutations.
  • Direct DNA sequencing (DS) is presented as a potential sole testing method for BRCA1/2 mutations due to patent holder strategies.
  • Several alternative mutation detection techniques exist, offering potential for more accessible genetic testing.

Purpose of the Study:

  • To conduct a cost-effectiveness analysis of various BRCA1/2 mutation detection strategies for hereditary breast cancer.
  • To compare Direct DNA sequencing (DS) against alternative multi-technique approaches.
  • To identify the most cost-effective method for comprehensive BRCA1/2 genetic analysis.

Main Methods:

  • Evaluated multiple mutation detection techniques: Direct DNA sequencing (DS), denaturing high performance liquid chromatography (DHPLC), single-strand conformation polymorphism (SSCP), denaturing gradient gel electrophoresis (DGGE), heteroduplex analysis (HA), fluorescent assisted mismatch analysis (FAMA), and protein truncation test (PTT).

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  • Devised twenty distinct strategies for complete genetic analysis, often involving a two-step procedure: pre-screening followed by DS of detected variations.
  • Assessed cost-effectiveness using DS as the 'gold standard' for accuracy.

    • Main Results:

    • Strategies incorporating pre-screening were 30-90% less expensive than DS alone, irrespective of annual equipment usage.
    • The most cost-effective strategy identified was a combination of PTT on exon 11 and HA on the remaining 21 exons (PTT(11)+HA(21)).
    • However, due to a high false negative rate with PTT(11)+HA(21), other strategies like PTT(11)+DHPLC(21), DHPLC alone, FAMA(11)+DHPLC(21), and FAMA alone are recommended.

    Conclusions:

    • Direct DNA sequencing (DS) is not the most cost-effective method for BRCA1/2 genetic testing in breast cancer.
    • The patent owner's approach may restrict access to more economical and effective genetic testing strategies.
    • Alternative combinations of mutation detection techniques offer significant cost reductions and viable alternatives to DS.