Purpose
To assess potential differences in genetic counseling (GC) services delivered by board certified genetic healthcare providers (GHPs) versus non-GHPs, we evaluated: 1) patient recall and content of pre-test GC for hereditary breast and ovarian cancer; and 2) whether full BRCA1 and 2 gene sequencing was performed when less expensive single-site or Ashkenazi Jewish (AJ) founder mutation testing may be 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 GHP involvement, 97% recalled a pre-test discussion compared to 59% without GHP involvement (p<0.001). Among the subgroup who recalled a pretest discussion (n=385), those with GHP involvement indicated higher adherence to eight recognized GC elements; 4 were statistically significant. Furthermore, involvement of a GHP 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 GHP involvement is associated with adherence to nationally recommended GC practices and could potentially reduce costs of BRCA genetic testing.
Results highlight the need to identify whether variability in hereditary cancer service delivery impacts patient outcomes. Findings also reveal opportunities to facilitate ongoing outreach and education.
This article introduces the identification, prevention, and treatment of hereditary cancer as an important public health concern. Hereditary cancer research and educational outreach activities are used to illustrate how public health functions can help to achieve health benefits of genetic and genomic medicine. First, we evaluate genetic service delivery through triangulating patient and provider survey results which reveal variability among providers in hereditary cancer knowledge and genetic service provision. Second, we describe efforts we have made to assure competency among healthcare providers and to inform, educate and empower patients with regard to the rapidly evolving field of genomics and hereditary cancer. Lastly, key policy-issues raised by our experiences are discussed in the context of how they may help us to more effectively translate future genomic technologies into practice in order to attain population health benefits from genetic and genomic medicine.
LBA1504 Background: Rates of risk-reducing bilateral mastectomy (RRM) or risk-reducing prophylactic oophorectomy (RRSO) among BRCA carriers are based on studies of non-Hispanic whites (NHW), with little known among blacks or Hispanics. Methods: A population-based sample of NHW, black, and Hispanic women diagnosed with invasive BC < age 50 in 2009-12 were recruited through the Florida State Cancer Registry and completed a baseline survey. Among the subset of BRCA carriers, we compared risk management for: 1) ovarian cancer (OC) through RRSO; and 2) BC through RRM or MRI screening, by calculating percentages and conducting logistic regression to control for other variables. Results: Of 1570 participants, 884 reported BRCA testing. Of the 91 BRCA carriers, 1) RRSO was 71% (36/51) among NHW, 32% (9/28) among blacks, and 83% (10/12) among Hispanics; 2) either breast MRI or RRM was 98% (50/51) among NHW, 85.7% (24/28) among blacks, and 100% (12/12) among Hispanics. BC risk management modality differed across groups, with lower rates of RRM among blacks (67%) compared to Hispanics (83%) and NHW (94%). After controlling for age at enrollment, time since diagnosis, income, family history of BC, family history of OC and private insurance at diagnosis: 1) Hispanics and NHW were significantly more likely than blacks to have RRSO (p = 0.01 and 0.02 respectively); and 2) NHW were also significantly more likely than blacks to have RRM (p = 0.03), although Hispanic race approached statistical significance (p = 0.10). Conclusions: The racial disparities in uptake of RRSO observed among blacks is particularly concerning given that RRSO is strongly recommended as the main OC prevention option due to the absence of effective OC early detection methods. The benefit from genetic testing comes from uptake of cancer risk management options, rather from testing itself. Future studies are needed to better understand and develop methods to improve cancer risk management practices across all populations.
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