Kosten der genetischen Beratung und der molekulargenetischen Diagnostik bei BRCA-Mutationen

Haverkamp, Alexander; Gerhardus, Ansgar; Krauth, Christian

doi:10.1007/3-540-26553-8_4

Cited by 1 publication

(1 citation statement)

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“…39 In the same year the price of Myriad laboratories for direct sequencing was at 2975 US dollar (2403 euro at the time), whereas Bioscientia, a German-based company operating with a license from Myriad, charged 3980 euro. 39 In October 2006 the prices of Myriad have increased to 3120 US dollars, corresponding to 2456 euro, whereas the prices of Bioscentia decreased to 1890 euro (personal communications) during the same interval (the offer of Bioscientia includes a search for large rearrangements and deletions in case of a negative result with direct sequencing in high-risk patients). The large variations in costs and prices between countries as well as different points in time precludes definite conclusions regarding the most cost-effective strategy at present.…”

Section: Current Status Of the Scanning Methods Evaluatedmentioning

confidence: 99%

Diagnostic accuracy of methods for the detection of BRCA1 and BRCA2 mutations: a systematic review

et al. 2007

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As sequence analysis for BRCA1 and BRCA2 mutations is both time-and cost-intensive, current strategies often include scanning techniques to identify fragments containing genetic sequence alterations. However, a systematic assessment of the diagnostic accuracy has been lacking so far. Here, we report on a systematic review to assess the internal and external validity of current scanning techniques. Inclusion criteria were: controlled design, investigators blinded, and tests suitable as a scanning tool for the whole genes BRCA1 and BRCA2. Outcome parameters were sensitivity, specificity, and positive and negative predictive values compared to direct sequencing. Out of 3816 publications, 10 studies reporting on 12 methods met our inclusion criteria. The internal and external validity of most of these studies was limited. Sensitivities were reported to be 100% for enzymatic mutation detection (EMD), multiple-dye cleavase fragment length polymorphism (MD-CFLP), fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE), RNA-based sequencing, restriction endonuclease fingerprinting-single strand conformation polymorphism (REF-SSCP), stop codon (SC) assay, and denaturing high-performance liquid chromatography (DHPLC). Sensitivity was 50-96% for SSCP, 88-91% for two-dimensional gene scanning (TDGS), 76% for conformation-sensitive gel electrophoresis (CSGE), 75% for protein truncation test (PTT), and 58% for micronucleus test (MNT). Specificities close to 100% were reported, except for MNT. PTT and SC assay are only able to detect truncating mutations. Most studies were designed to introduce new experimental approaches or modifications of established methods and require further evaluation. F-CSGE, REF-SSCP, RNA-based sequencing, EMD, and MD-CFLP will need further evaluation before their use in a routine setting can be considered. SSCP, MNT, PTT, CSGE, and TDGS cannot be recommended because of their low sensitivity. DHPLC outperforms all other methods studied. However, none of the four studies evaluating DHPLC was performed on BRCA2.

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Section: Current Status Of the Scanning Methods Evaluatedmentioning

confidence: 99%