PROMISE Registry: A prostate cancer registry of outcomes and germline mutations for improved survival and treatment effectiveness.

BACKGROUND: Recently approved treatments and updates to genetic testing recommendations for prostate cancer have created a need for correlated analyses of patient outcomes data via germline genetic mutation status. Genetic registries address these gaps by identifying candidates for recently approved targeted treatments, expanding clinical trial data examining specific gene mutations, and understanding effects of targeted treatments in the real-world setting. METHODS: The PROMISE Registry is a 20-year (5-year recruitment, 15-year follow-up), US-wide, prospective genetic registry for prostate cancer patients. Five thousand patients will be screened through an online at-home germline testing to identify and enroll 500 patients with germline mutations, including: pathogenic or likely pathogenic variants and variants of uncertain significance in genes of interest. Patients will be followed for 15 years and clinical data with real time patient reported outcomes will be collected. Eligible patients will enter long-term follow-up (6-month PRO surveys and medical record retrieval). As a virtual study with patient self-enrollment, the PROMISE Registry may fill gaps in genetics services in underserved areas and for patients within sufficient insurance coverage. RESULTS: The PROMISE Registry opened in May 2021. 2114 patients have enrolled to date across 48 US states and 23 recruiting sites. 202 patients have met criteria for long-term follow-up. PROMISE is on target with the study's goal of 5000 patients screened and 500 patients eligible for long-term follow-up by 2026. CONCLUSIONS: The PROMISE Registry is a novel, prospective, germline registry that will collect long-term patient outcomes data to address current gaps in understanding resulting from recently FDA-approved treatments and updates to genetic testing recommendations for prostate cancer. Through inclusion of a broad nationwide sample, including underserved patients and those unaffiliated with major academic centers, the PROMISE Registry aims to provide access to germline genetic testing and to collect data to understand disease characteristics and treatment responses across the disease spectrum for prostate cancer with rare germline genetic variants.

Results of a randomized controlled trial of a decision support intervention for disclosing maternal BRCA genetic test results to children and adolescents.

Objective: Evaluate the impact of a targeted family communication intervention for mothers undergoing genetic counseling and testing (GCT) for BRCA gene alterations. Methods: Following BRCA GCT, mothers (N = 204; M age = 45 y) were randomized to either a control condition (self-help print materials) or intervention (printed decision support guide, based on behavioral decision making theory in health care) for supporting choices about disclosing maternal genetic test results to children and adolescents. Behavioral assessments were administered prior to maternal GCT and after receipt of results: primary outcomes were maternal disclosure to children and parent-child communication quality. Results: Mothers in the intervention were > 2x likely to disclose their BRCA test results to their children compared to those in the control condition (odds ratio [OR] = 2.33, 95% confidence interval [CI] = 1.06, 5.10; p = .04). This effect was moderated by children's ages: mothers of preteens (<13 y) assigned to the intervention were >3x likely to disclose their results (OR = 3.74, 95% CI = 1.49, 9.41; p = .005). In adjusted models, intervention was also associated with favorable changes in the quality of parent-child communication (95% CI = 0.30, 9.00; p < .05). Conclusion: Decision support improves parent-child communication outcomes about GCT for hereditary breast-ovarian cancer. Innovation: This trial is among the first to empirically evaluate the outcomes of a behavioral intervention to support family communication of maternal BRCA risk information to children.

MLH1-methylated endometrial cancer under 60 years of age as the "sentinel" cancer in female carriers of high-risk constitutional MLH1 epimutation.

OBJECTIVE: Universal screening of endometrial carcinoma (EC) for mismatch repair deficiency (MMRd) and Lynch syndrome uses presence of MLH1 methylation to omit common sporadic cases from follow-up germline testing. However, this overlooks rare cases with high-risk constitutional MLH1 methylation (epimutation), a poorly-recognized mechanism that predisposes to Lynch-type cancers with MLH1 methylation. We aimed to determine the role and frequency of constitutional MLH1 methylation among EC cases with MMRd, MLH1-methylated tumors. METHODS: We screened blood for constitutional MLH1 methylation using pyrosequencing and real-time methylation-specific PCR in patients with MMRd, MLH1-methylated EC ascertained from (i) cancer clinics (n = 4, <60 years), and (ii) two population-based cohorts; "Columbus-area" (n = 68, all ages) and "Ohio Colorectal Cancer Prevention Initiative (OCCPI)" (n = 24, <60 years). RESULTS: Constitutional MLH1 methylation was identified in three out of four patients diagnosed between 36 and 59 years from cancer clinics. Two had mono-/hemiallelic epimutation (∼50% alleles methylated). One with multiple primaries had low-level mosaicism in normal tissues and somatic "second-hits" affecting the unmethylated allele in all tumors, demonstrating causation. In the population-based cohorts, all 68 cases from the Columbus-area cohort were negative and low-level mosaic constitutional MLH1 methylation was identified in one patient aged 36 years out of 24 from the OCCPI cohort, representing one of six (∼17%) patients <50 years and one of 45 patients (∼2%) <60 years in the combined cohorts. EC was the first/dual-first cancer in three patients with underlying constitutional MLH1 methylation. CONCLUSIONS: A correct diagnosis at first presentation of cancer is important as it will significantly alter clinical management. Screening for constitutional MLH1 methylation is warranted in patients with early-onset EC or synchronous/metachronous tumors (any age) displaying MLH1 methylation.

Long-Term Adaptation Among Adolescent and Young Adult Children to Familial Cancer Risk.

BACKGROUND: It is important to examine adolescent and young adult (AYA) children's long-term psychosocial and behavioral adaptation to disclosure of maternal BRCA-positive carrier status (BRCA+) to inform approaches for familial cancer risk communication, education, and counseling. METHODS: Mothers underwent BRCA genetic testing 1 to 5 years earlier. Group differences in AYAs' self-reported outcomes were analyzed by maternal health and carrier status, and child age and sex. RESULTS: A total of N = 272 AYAs were enrolled: 76.1% of their mothers were breast or ovarian cancer survivors and 17.3% were BRCA+. AYAs' cancer risk behavior (tobacco and alcohol use, physical activity) and psychologic distress levels did not vary by maternal status. In bivariate analyses, AYAs of cancer-surviving mothers believed themselves to be at greater risk for, and were more knowledgeable about, cancer than AYAs of mothers without cancer. AYAs of BRCA+ mothers were more concerned about cancer, held stronger beliefs about genetic risk, and placed a higher value on learning about genetics. In adjusted models, maternal cancer history (not BRCA+) remained associated with AYAs' greater perceptions of cancer risk (P = .002), and knowledge about cancer (P = .03) and its causes (P = .002). CONCLUSIONS: Disclosing maternal BRCA+ status did not influence children's lifestyle behavior or adversely affect quality of life long term. AYAs of BRCA+ mothers were more aware of and interested in genetic risk information. Such families may benefit from support to promote open communication about genetic testing choices.

Patient attendance at molecular tumor board: A new means of shared decision making?

Patient engagement in medical decision-making improves patient related outcomes through compliance and patient satisfaction. The Inova Schar Cancer Institute has a weekly molecular tumor board (MTB) to match comprehensive genomic sequencing results with targeted therapies for patients. Primary oncologists extended MTB invitations to their patients. Ultimately, 20 of the 139 patients attended and completed pre- and post MTB surveys. There was a statistically significant change from the pre- to post- survey for the question "I am satisfied with how well informed I am about targeted therapy" with P = 0.016. Patients who attended MTB reported higher levels of satisfaction with their knowledge of targeted therapy after MTB as compared to before. A more holistic method of studying this practice would include sampling a larger patient population and a formal evaluation of the physicians' experience with patients attending.

Psychosocial impact of proactive rapid genetic counseling following breast cancer diagnosis.

OBJECTIVE: As germline genetic referral becomes increasingly routine as part of the care of newly diagnosed breast cancer patients, it is important to understand the psychosocial impact of genetic counseling at the time of diagnosis. We examined the psychosocial and quality of life (QOL) impact of providing proactive rapid genetic counseling and testing (RGCT) in the immediate aftermath of a breast cancer diagnosis. METHODS: We randomized 330 patients in a 2:1 ratio to proactive rapid genetic counseling (RGCT; N = 222) versus usual care (UC; N = 108). Participants completed a baseline telephone survey before randomization and definitive surgery and a follow-up survey at 1-month post-randomization. We evaluated the impact of RGCT versus UC on breast cancer genetic knowledge, distress, QOL, and decisional conflict. Given that 43% of UC participants and 86% of RGCT participants completed genetic counseling prior to the 1-month assessment, we also evaluated the impact of genetic counseling participation over and above group assignment. RESULTS: The RGCT intervention led to increased breast cancer genetic knowledge relative to UC but did not differentially impact other study outcomes. Across groups patients who participated in genetic counseling had significantly increased knowledge and improved QOL compared to those who did not participate in genetic counseling. CONCLUSIONS: While prior research has documented the impact of genetic counseling and testing on surgical decisions, these results confirm that participation in genetic counseling at the time of diagnosis can yield improvements in knowledge and QOL in the short-term.

Telephone versus in-person genetic counseling for hereditary cancer risk: Patient predictors of differential outcomes.

PURPOSE: Telegenetics has become the predominant mode of cancer genetic counseling during the COVID-19 pandemic. We sought to identify potential patient-level contraindicators for telegenetic genetic counseling. METHODS: We analyzed post-counseling (pre-result disclosure) follow-up data from a randomized noninferiority trial of a telephone genetic counseling versus usual care genetic counseling. Among 669 randomized participants, 600 completed pre-test counseling and 568 completed a 2-week follow-up assessment before receiving test results. In this analysis, we focused on genetic counseling outcomes (knowledge, decisional conflict, and distress). In multivariate models controlling for bivariate predictors of these outcomes, we tested our a priori hypotheses that pre-counseling numeracy, perceived stress, and race/ethnicity would moderate the outcomes of telephone genetic counseling versus usual care. RESULTS: Only numeracy significantly moderated associations between mode of genetic counseling and outcomes. Higher numeracy was associated with higher post-counseling knowledge following telephone genetic counseling (p < 0.001), but not usual care (p = 0.450). Higher numeracy was also associated with lower distress following telephone genetic counseling (p = 0.009) but not usual care (p = 0.16). Neither perceived stress nor race/ethnicity exhibited differential impacts on telephone genetic counseling versus usual care (ps > 0.20). CONCLUSION: Although high numeracy was associated with higher levels of knowledge following telegenetic counseling, we did not identify any clinically significant patient-level contraindicators for telegenetic counseling. These results lend further confidence to the broad use of telegenetics.

Predictors of genetic testing uptake in newly diagnosed breast cancer patients.

BACKGROUND AND OBJECTIVES: Many newly diagnosed breast cancer patients do not receive genetic counseling and testing at the time of diagnosis. We examined predictors of genetic testing (GT) in this population. METHODS: Within a randomized controlled trial of proactive rapid genetic counseling and testing vs usual care, patients completed a baseline survey within 6 weeks of breast cancer diagnosis but before a definitive survey. We conducted a multinomial logistic regression to identify predictors of GT timing/uptake. RESULTS: Having discussed GT with a surgeon was a dominant predictor (χ2 (2, N = 320) = 70.13; P < .0001). Among those who discussed GT with a surgeon, patients who had made a final surgery decision were less likely to receive GT before surgery compared with postsurgically (OR [odds ratio] = 0.24; 95% confidence interval [CI] = 0.12-0.49) or no testing (OR = 0.28; 95% CI = 0.14-0.56). Older patients (OR = 0.95; 95% CI = 0.91-0.99) and participants enrolled in New York/New Jersey (OR = 0.22; 95% CI = 0.07-0.72) were less likely to be tested compared with receiving results before surgery. Those with higher perceived risk (OR = 1.02; 95% CI = 1.00-1.03) were more likely to receive results before surgery than to not be tested. CONCLUSIONS: This study highlights the role of patient-physician communication about GT as well as patient-level factors that predict presurgical GT.

Cancer genetic health communication in families tested for hereditary breast/ovarian cancer risk: a qualitative investigation of impact on children's genetic health literacy and psychosocial adjustment.

Children's literacy about the genetics of late-onset hereditary breast/ovarian cancer (HBOC) often develops through conversations with parents about BRCA gene testing and adults' cancer diagnoses. These conversations may promote early understanding of HBOC, but the long-term impact on children's psychosocial adjustment remains unclear. We investigated cancer genetic health communication in BRCA-tested families to consider benefits, risks, and moderating influences on children's understanding and well-being. Adolescent and young adult children (ages 12-24) of mothers who underwent BRCA testing 1+ years previously completed qualitative interviews that were transcribed, coded (intercoder K ≥ .70), and content-analyzed (N = 34). Children readily recalled conversations about BRCA testing and HBOC (100%) that they considered important (94%), but implications for children were ambiguous and obfuscated their concerns. Psychosocial impacts were muted, multifaceted, and displayed a range of favorable (82%), neutral (71%), and unfavorable (59%) response-frequently co-occurring within the same child over different aspects (e.g., medical, concern for self and others). Children verbalized active (50%) and avoidant (38%) coping strategies: about 1:5 endorsed transient thoughts about vulnerability to HBOC, 1:3 had not further considered it, and all reported specific actions they had or would undertake to remain healthy (e.g., diet/exercise). A majority (94%) of children had or would consider genetic testing for themselves, usually later in life (59%). Long-term outcomes highlighted benefits (awareness of HBOC, psychological hardiness, healthier lifestyle behaviors), as well as some psychosocial concerns that could be managed through interventions promoting genetic health literacy.

Maternal perceptions of BRCA genetic counseling communication processes about disclosing cancer risk information to children and adult relatives.

OBJECTIVES: Using a novel measure, examine maternal perceptions of the process by which issues pertaining to family communication of BRCA test results are addressed during cancer genetic counseling. METHODS: After receiving BRCA results, mothers (N = 211) of minor-age children reported on their counseling experiences with providers using a communication process measure as well as other psychosocial variables. RESULTS: The novel Genetic Counseling Communication Process measure demonstrated good internal consistency of its 2 factors: patient-led communication (Cronbach's α = 0.73) and provider-led communication (Cronbach's α = 0.82). Participants most often reported that discussions about family communication of BRCA test results to children and adult relatives were led only by their providers (38.2%-39.2%), as opposed to being led by the patient, both parties, or neither party. Providers were most likely to lead these discussions when mothers had stronger family histories of cancer and expressed more confidence about making a decision to talk to their children about BRCA. However, mothers typically led such discussions if they were raising older children and held more positive attitudes about pediatric BRCA testing. CONCLUSIONS: When the assessment of BRCA genetic counseling outcomes includes family communication to potentially at-risk relatives, we learned that most but not all sessions addressed this topic. Cancer family history, child age, and maternal attitudes are important co-factors in these patient-provider communication exchanges. Providers delivering BRCA genetic counseling should be attentive to mothers' information and support needs regarding communicating cancer genetic test results to at-risk relatives, including children.

Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up.

BACKGROUND: Telephone delivery of genetic counseling is an alternative to in-person genetic counseling because it may extend the reach of genetic counseling. Previous reports have established the noninferiority of telephone counseling on short-term psychosocial and decision-making outcomes. Here we examine the long-term impact of telephone counseling (TC) vs in-person counseling (usual care [UC]). METHODS: We recruited high-risk women for a noninferiority trial comparing TC with UC. Of 1057 potentially eligible women, 669 were randomly assigned to TC (n = 335) or UC (n = 334), and 512 completed the 12-month follow-up. Primary outcomes were patient-reported satisfaction with genetic testing decision, distress, and quality of life. Secondary outcomes were uptake of cancer risk management strategies. RESULTS: TC was noninferior to UC on all primary outcomes. Satisfaction with decision (d = 0.13, lower bound of 97.5% confidence interval [CI] = -0.34) did not cross its one-point noninferiority limit, cancer-specific distress (d = -2.10, upper bound of 97.5% CI = -0.07) did not cross its four-point noninferiority limit, and genetic testing distress (d = -0.27, upper bound of 97.5% CI = 1.46), physical function (d = 0.44, lower bound of 97.5% CI = -0.91) and mental function (d = -0.04, lower bound of 97.5% CI = -1.44) did not cross their 2.5-point noninferiority limit. Bivariate analyses showed no differences in risk-reducing mastectomy or oophorectomy across groups; however, when combined, TC had significantly more risk-reducing surgeries than UC (17.8% vs 10.5%; χ2 = 4.43, P = .04). CONCLUSIONS: Findings support telephone delivery of genetic counseling to extend the accessibility of this service without long-term adverse outcomes.

Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer.

Telephone genetic counseling (TC) for high-risk women interested in BRCA1/2 testing has been shown to yield positive outcomes comparable to usual care (UC; in-person) genetic counseling. However, little is known about how genetic counselors perceive the delivery of these alternate forms of genetic counseling. As part of a randomized trial of TC versus UC, genetic counselors completed a 5-item genetic counselor process questionnaire (GCQ) assessing key elements of pre-test sessions (information delivery, emotional support, addressing questions and concerns, tailoring of session, and facilitation of decision-making) with the 479 female participants (TC, N = 236; UC, N = 243). The GCQ scores did not differ for TC vs. UC sessions (t (477) = 0.11, p = 0.910). However, multivariate analysis showed that participant race/ethnicity significantly predicted genetic counselor perceptions (ß = 0.172, p < 0.001) in that the GCQ scores were lower for minorities in TC and UC. Exploratory analyses suggested that GCQ scores may be associated with patient preference for UC versus TC (t (79) = 2.21, p = 0.030). Additionally, we found that genetic counselor ratings of session effectiveness were generally concordant with patient perceptions of the session. These data indicate that genetic counselors perceive that key components of TC can be delivered as effectively as UC, and that these elements may contribute to specific aspects of patient satisfaction. However, undefined process differences may be present which account for lower counselor perceptions about the effectiveness of their sessions with minority women (i.e., those other than non-Hispanic Whites). We discuss other potential clinical and research implications of our findings.

Modeling the dyadic effects of parenting, stress, and coping on parent-child communication in families tested for hereditary breast-ovarian cancer risk.

Genetic testing for BRCA genes, associated with hereditary breast-ovarian cancer risk, is an accepted cancer control strategy. BRCA genetic testing has both medical and psychosocial implications for individuals seeking testing and their family members. However, promoting open and adaptive communication about cancer risk in the family is challenging for parents of minor children. Using prospective data collected from mothers undergoing BRCA genetic testing and their untested co-parents (N = 102 parenting dyads), we examined how maternal and co-parent characteristics independently and conjointly influenced the overall quality of parent-child communication with minor children. Statistical associations were tested in accordance with the Actor-Partner Interdependence Model. Significant Actor effects were observed among mothers, such that open parent-child communication prior to genetic testing was positively associated with open communication 6 months following receipt of genetic test results; and among co-parents, more open parent-child communication at baseline and greater perceived quality of the parenting relationship were associated with more open parent-child communication at follow-up. Partner effects were also observed: co-parents' baseline communication and confidence in their ability to communicate with their minor children about genetic testing was positively associated with open maternal parent-child communication at follow-up. These results demonstrate that for families facing the prospect of cancer genetic testing, perceptions and behaviors of both members of child-rearing couples have important implications for the overall quality of communication with their minor children, including communication about cancer risk.

Patient Perceptions of Telephone vs. In-Person BRCA1/BRCA2 Genetic Counseling.

Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women's perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N = 272; UC, N = 282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR = 4.78, 95 % CI = 3.32, 6.89) while also perceiving lower levels of support (OR = 0.56, 95 % CI = 0.40-0.80) and emotional recognition (OR = 0.53, 95 % CI = 0.37-0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4 % vs. 52.8 %; OR = 3.06, 95 % CI = 1.39-6.74), while minority women perceived less support in UC vs. TC (58.3 % vs. 38.7 %; OR = 0.80, 95 % CI = 0.39-1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC.

Deleterious BRCA1/2 mutations in an urban population of Black women.

Information on the prevalence of deleterious BRCA1 and BRCA2 (BRCA1/2) mutations in clinic-based populations of Black women is limited. In order to address this gap, we performed a retrospective study to determine the prevalence of deleterious BRCA1/2 mutations, predictors of having a mutation, and acceptance of risk-reducing surgeries in Black women. In an urban unselected clinic-based population, we evaluated 211 self-identified Black women who underwent genetic counseling for hereditary breast-ovarian cancer syndrome. BRCA1/2 mutations were identified in 13.4% of the participants who received genetic testing. Younger age at diagnosis, higher BRCAPRO score, significant family history, and diagnosis of triple-negative breast cancer were associated with identification of a BRCA1/2 mutation. Of the affected patients found to have a deleterious mutation, almost half underwent prophylactic measures. In our study population, 1 in 7 Black women who underwent genetic testing harbored a deleterious BRCA1/2 mutation independent of age at diagnosis or family history.

Women's concerns about the emotional impact of awareness of heritable breast cancer risk and its implications for their children.

Women tested for mutations in BRCA1/2 genes who have minor-aged children confront difficult decisions about if, when, and how to share information about hereditary cancer risk with their children. These choices are often seemingly influenced by how mothers anticipate the emotional burdens they and their children will experience in response to test results. Here, we investigate the association between maternal cognitions, pretest psychological well-being, and coping style with mothers' anticipated emotional reactions to learning that they are BRCA1/2 mutation carriers (N = 205). In a linear regression model adjusted for maternal demographics, stronger tendencies to ruminate about information (B = .14, p = .03), greater psychological strain (B = .14, p < .001), and poorer appraisals of one's ability to cope with genetic test results conveying increased breast cancer risk information (B = -.25, p < .001) were significantly associated with anticipating more negative affect surrounding BRCA1/2 mutation identification in mothers. Our data contribute to the growing awareness of special concerns that mothers have about knowing their BRCA1/2 mutation status and highlight the need for more tailored patient education and counseling resources to improve outcomes among women at risk and their children.

Disparities in uptake of BRCA1/2 genetic testing in a randomized trial of telephone counseling.

PURPOSE: As genetic counseling and testing become more fully integrated into clinical care, alternative delivery models are increasingly prominent. This study examines predictors of genetic testing for hereditary breast/ovarian cancer among high-risk women in a randomized trial of in-person versus telephone-based genetic counseling. METHODS: Methods include multivariable logistic regression and interaction analyses. RESULTS: Of the 669 participants, 600 completed counseling and 523 received test results. As previously reported, participants randomized to telephone counseling were significantly less likely to be tested. In intention-to-treat analyses, completion of counseling and testing was associated with: race/ethnicity (odds ratio (OR) = 1.96, 95% confidence interval (CI): 1.20-3.20), perceived stress (OR = 0.89, 95% CI: 0.81-0.98), knowledge (OR = 1.12, 95% CI: 1.02-1.23), and randomization group (OR = 1.48, 95% CI: 1.01-2.16). Further, race/ethnicity moderated the association between randomization group and testing; minority women receiving telephone counseling were least likely to complete testing. CONCLUSION: Evidence for logistical and communication-based explanations for this interaction is presented. The overall increased access made possible with telephone genetic counseling should be considered in light of the possibility that this may also lead to lower rates of testing among high-risk minority women. Additional care should be taken to assess and address potential barriers when services are delivered by telephone.Genet Med 17 6, 467-475.

Distress and the parenting dynamic among BRCA1/2 tested mothers and their partners.

OBJECTIVE: To investigate the influence of dyadic parenting relationships on psychological distress among mothers tested for BRCA1/2 genetic mutations and their untested partners. METHODS: Data were from a prospective study of mothers suspected to be at risk for hereditary breast/ovarian cancer who underwent genetic counseling and BRCA1/2 testing and their untested parenting partners (n = 109 parenting dyads). Participants completed assessments before and 1 month after genetic testing. Structural equation modeling was used to examine relationships among mothers' and partners' psychological distress, decisional conflict surrounding communication of test results to their offspring, and the parent-child communication relationship. Psychological distress was measured using items modified from the Brief Symptom Inventory. RESULTS: Among mothers, greater psychological distress (B = 0.29, p < .001) and poorer parent-child communication (B = -0.12, p < .01) at baseline predicted greater distress at follow-up. Among partners, greater distress at baseline predicted greater distress at follow-up (B = 0.67, p < .001). Mother and partner decisional conflict at baseline were equally associated with the other dyad member's distress at follow-up (B = 1.17, p < .01), but not their own distress. CONCLUSIONS: Our findings indicate that conflicted decision-making over family communication of hereditary breast/ovarian cancer genetic test results for one member of a parenting dyad adversely affects the other dyad member's psychological well-being. Interventions to improve outcomes for mothers who may be at-risk for hereditary breast and ovarian cancer and undergoing BRCA1/2 genetic testing should attend to mothers' and their partners' preferences regarding family communication about hereditary cancer risk.

Decisional outcomes of maternal disclosure of BRCA1/2 genetic test results to children.

BACKGROUND: Although BRCA1/2 genetic testing is discouraged in minors, mothers may disclose their own results to their children. Factors affecting patients' disclosure decisions and patient outcomes of disclosure are largely unknown. METHODS: Mothers (N = 221) of children aged 8 to 21 years enrolled in this prospective study of family communication about cancer genetic testing. Patients underwent BRCA1/2 genetic counseling and testing, and completed standardized behavioral assessments before and 1-month following receipt of their results. RESULTS: Most patients (62.4%) disclosed BRCA1/2 test results to their child. Patients were more likely to disclose if they received negative or uninformative versus positive results [OR = 3.11; 95% confidence interval (CI), 1.11-8.71; P = .03], their child was 13 years of age or more versus younger (OR = 5.43; 95% CI, 2.18-13.53; P < .001), and as the ratio of patients' perceived benefits of disclosure outweighed potential risks (OR = 2.40; 95% CI, 1.63-3.54; P < .001). Postdecision satisfaction about disclosure was lowest among nondisclosing patients (P < .001) and those reporting greater decisional conflict (P < .001). CONCLUSIONS: Patients commonly discuss their BRCA1/2 results with their teenage and young adult children, especially if the information is perceived as beneficial. Satisfaction with disclosure decision making remains lowest among nondisclosing and conflicted patients. Family communication decision support adjuncts to genetic counseling are needed to help ameliorate these effects. IMPACT: This study describes the prevalence of family communication about maternal BRCA1/2 genetic testing with minor children, and decisions and outcomes of disclosure.

Intentions for bilateral mastectomy among newly diagnosed breast cancer patients.

BACKGROUND: Recent trends suggest that bilateral mastectomy (BM) is on the rise among women diagnosed with unilateral breast cancer. Few studies have investigated the factors associated with the decision to have more aggressive surgery among young, high risk patients. METHODS: As part of a larger study, 284 women aged 50 and under completed an initial survey within 6 weeks of a breast cancer diagnosis. We assessed sociodemographics, medical and family history variables, treatment recommendations, preferences and concerns, distress, perceived risk, knowledge, and neuroticism. We used multiple regression with backward entry to assess the relationship between these variables and our outcomes of decisional conflict and intentions for BM. RESULTS: Higher decisional conflict was associated with being less educated, unmarried, more anxious and less likely to have received a surgical recommendation. Preference for BM was associated with higher neuroticism, perceived risk for contralateral breast cancer, pre-testing risk of carrying a BRCA1/2 mutation, having received either a surgical recommendation (vs. no recommendation), and lower preference for lumpectomy. CONCLUSIONS: For younger women, a surgical recommendation is associated with lower decisional conflict and stronger intention for BM. Results highlight the importance of effective risk communication and decision support between a woman and her surgeon.