Bradbury AR, Patrick‐Miller L, Fetzer D, Egleston B, Cummings SA, Forman A, Bealin L, Peterson C, Corbman M, O’Connell J, Daly MB. Genetic counselor opinions of, and experiences with telephone communication of BRCA1/2 test results. BRCA1/2 test disclosure has, historically, been conducted in‐person by genetics professionals. Given increasing demand for, and access to, genetic testing, interest in telephone and Internet genetic services, including disclosure of test results, has increased. Semi‐structured interviews with genetic counselors were conducted to determine interest in, and experiences with telephone disclosure of BRCA1/2 test results. Descriptive data are summarized with response proportions. One hundred and ninety‐four genetic counselors completed self‐administered surveys via the web. Although 98% had provided BRCA1/2 results by telephone, 77% had never provided pre‐test counseling by telephone. Genetic counselors reported perceived advantages and disadvantages to telephone disclosure. Thirty‐two percent of participants described experiences that made them question this practice. Genetic counselors more frequently reported discomfort with telephone disclosure of a positive result or variant of uncertain significance (p < 0.01) than other results. Overall, 73% of participants reported interest in telephone disclosure. Many genetic counselors have provided telephone disclosure, however, most, infrequently. Genetic counselors identify potential advantages and disadvantages to telephone disclosure, and recognize the potential for testing and patient factors to impact patient outcomes. Further research evaluating the impact of testing and patient factors on cognitive, affective, social and behavioral outcomes of alternative models of communicating genetic information is warranted.
#1098 Disclosure of BRCA1/2 test results has historically been conducted in person by a certified genetic counselor (GC) and/or other health care professional. Due to increasing demand for and access to BRCA1/2 testing, there has been interest in providing genetic counseling services, including disclosure of test results, by telephone and internet. The practice of telephone disclosure among certified genetic counselors has not been described. We conducted semi-structured interviews with GCs to determine current prevalence of, and future interest in, telephone disclosure (TD) of BRCA1/2 test results. Surveys were self-administered and completed via a secure web site. Participants were recruited through the NSGC Cancer Special Interest Group. 195 GCs completed the survey (25% response rate). 23% of respondents have provided pre-test counseling by telephone. 98% reported having provided genetic test results by telephone, although many (48%) conduct TD rarely (<25% of the time). 33% reported TD experiences that had made them question TD as a practice. Comfort with TD varied by test result (37% comfortable with TD for positive test results, 77% for true negative results, 49% for indeterminate results and 33% for VUS results). The majority of GCs do not include a physician (85%) in the TD. Many report encouraging in-person follow-up with a GC (44%) and/or physician (30%). Overall, 42% reported being very interested in TD and 73% felt TD could be an acceptable standard practice. These results suggest many genetic counselors have provided genetic test results by phone and are interested in including telephone disclosure of BRCA1/2 test results in their practice. Given provider interest and the expansion of testing for BRCA1/2 and other hereditary cancer syndromes, further research evaluating the cognitive, affective and behavioral responses to telephone disclosure is warranted. Understanding the impact of telephone disclosure on factors such as, comprehension, risk perception, communication and performance of risk reducing behaviors and their mediators will be critical for the development of telephone disclosure policy and procedures that will optimize adaptive responses to receiving genetic test results via telephone or internet. Citation Information: Cancer Res 2009;69(2 Suppl):Abstract nr 1098.
1522 Background: The quality of life (QOL) and psychological impact of incorporating MRI into breast cancer screening programs for high-risk women (HRW) has not been well studied. Psychological and biological risk factors, e.g. cancer history, BRCA mutation, imaging recall, generalized anxiety or clinical depression may mediate QOL outcomes. Methods: 100 HRW undergoing intensive surveillance including yearly mammography, semiannual breast ultrasound and breast MRI have completed QOL (SF-36), anxiety (STAI) and depression (Beck) questionnaires at semi-annual visits. 56 HRW have completed 3 screenings. Differences in QOL measures over time were evaluated using longitudinal regression models. Differences between participants and population norms (PN), women with/without a history of cancer and with/without a BRCA mutation were assessed using t-tests. Results: QOL scores increased over time and were statistically significant for the general health (GH) subscale (p=0.016). All QOL subscales were higher than PN at baseline and were significantly higher than PN at 12 months. Mean GH score at 12 months = 80.0, PN 72.7 (SD14.2, p<0.01). Mean mental health score at 12 months = 78.9, PN 73.4 (SD14.9, p<0.01). At baseline, BRCA carriers had lower QOL scores than non-carriers and women with a history of cancer had higher QOL scores than unaffected participants, although these differences were not statistically significant. Conclusions: These data suggest that intensive breast cancer screening incorporating breast MRI may have a positive effect among HRW. Continued enrollment will allow for multi-variate characterization of psychological and biological predictors of change in QOL and psychological well-being among high-risk women undergoing intensive screening. No significant financial relationships to disclose.
1015 Background: Genetic testing of minors for adult-onset diseases has generally been discouraged. Yet, limited data suggests that many BRCA mutation carriers discuss their test results with their minor children. How parents make the decision to share this information and the effects on their health, their child and the family remains unknown. Methods: We sought to evaluate disclosure patterns and decision making practices among BRCA1/2 mutation carriers with children under the age of 25. 42 parents (with 86 children) completed a semi-structured telephone interview regarding communication of their genetic test results to their children. Chi-squared tests to assess associations between parent/child characteristics and disclosure were computed using robust variance estimates to account for clustering by family unit. Results: 55% of parents discussed hereditary risk of cancer and/or their genetic test results with at least one child. Factors associated with disclosure included older child age (p<0.001), female parent gender (p=0.049), parent history of prophylactic surgery (mastectomy: p = 0.021, oophorectomy: p<0.001) and education limited to high school (p=0.085). Child gender and parent’s history of cancer were not significantly associated with disclosure. Most participants reported themselves (45%) or their spouse (40%) as the most important person in the decision to disclose. Reports of physician (14%) and genetic counselor (21%) involvement were low. Conclusions: Parental decisions to disclose BRCA test results to children are complex and may reflect differences in perceptions of genetic disease. Further research is needed to understand parental motivations for disclosure and to define a role for health care professionals to improve counseling and recommendations regarding the risks and benefits of early communication of genetic risk to children. No significant financial relationships to disclose.
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