lunes, 23 de junio de 2014

Differences in BRCA counseling and testing practic... [Genet Med. 2014] - PubMed - NCBI

Differences in BRCA counseling and testing practic... [Genet Med. 2014] - PubMed - NCBI

 2014 Jun 12. doi: 10.1038/gim.2014.75. [Epub ahead of print]

Differences in BRCA counseling and testing practices based on ordering provider type.


Purpose:The purpose of this study was to assess potential differences in genetic counseling services delivered by board-certified genetic health-care providers versus non-genetic health-care providers. We evaluated (i) patient recall and content of pretest genetic counseling for hereditary breast and ovarian cancer and (ii) whether full BRCA1 and 2 gene sequencing was performed when less expensive single-site or Ashkenazi Jewish founder mutation testing may have been sufficient.Methods:Participants completed a questionnaire and provided BRCA test reports that included testing provider and type of test. Chi-square tests and logistic regression were used for analysis.Results:Of 473 participants, >90% were white, female, and BRCA mutation carriers. Of the 276 (58%) with genetic health-care provider involvement, 97% recalled a pretest discussion as compared with 59% of those without genetic health-care provider involvement (P < 0.001). Among the subgroup who recalled a pretest discussion (n = 385), those with genetic health-care provider involvement indicated higher adherence to eight recognized genetic counseling elements, four of which were statistically significant. Furthermore, involvement of a genetic health-care provider halved the likelihood that comprehensive BRCA testing was ordered among the 266 for whom single-site or multisite-3 testing may have been sufficient (P = 0.02).Conclusion:Our results suggest that genetic health-care provider involvement is associated with adherence to nationally recommended genetic counseling practices and could potentially reduce costs of BRCA genetic testing.Genet Med advance online publication 12 June 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.75.

[PubMed - as supplied by publisher]

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