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Telephone genetic counseling (TGC) is accepted as standard clinical care for people seeking hereditary cancer risk assessment. TGC has been shown to be non-inferior to in-person genetic counseling, but trials have been conducted with a predominantly highly educated, non-Hispanic White population. This article describes the process of culturally adapting a TGC protocol and visual aid booklet for Spanish-preferring Latina breast cancer survivors at risk for hereditary breast and ovarian cancers. The adaptation process included two phases. Phase 1 involved a review of the literature and recommendations from an expert team including community partners. Phase 2 included interviews and a pilot with the target population (n = 14) to collect feedback about the adapted protocol and booklet following steps from the Learner Verification and Revision Framework. We describe the adaptation process and report the main adaptations following the Framework for Reporting Adaptations and Modifications to Evidence-based Interventions (FRAME). Adaptations in Phase 1 were responsive to the target population needs and characteristics (e.g. delivered in Spanish at an appropriate health literacy level, addressing knowledge gaps, targeting cultural values). Phase 2 interviews were crucial to refine details (e.g. selecting words) and to add components to address GCT barriers (e.g. saliva sample video). Cultural adaptations to evidence-based TGC protocols can increase the fit and quality of care for historically underserved populations. As TGC visits become routine in clinical care, it is crucial to consider the needs of diverse communities to adequately promote equity and justice in cancer care. [ABSTRACT FROM AUTHOR]

Background We studied humoral responses after coronavirus disease 2019 (COVID-19) vaccination across varying causes of immunodeficiency. Methods Prospective study of fully vaccinated immunocompromised adults (solid organ transplant [SOT], hematologic malignancy, solid cancers, autoimmune conditions, human immunodeficiency virus [HIV]) versus nonimmunocompromised healthcare workers (HCWs). The primary outcome was the proportion with a reactive test (seropositive) for immunoglobulin G to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) receptor-binding domain. Secondary outcomes were comparisons of antibody levels and their correlation with pseudovirus neutralization titers. Stepwise logistic regression was used to identify factors associated with seropositivity. Results A total of 1271 participants enrolled: 1099 immunocompromised and 172 HCW. Compared with HCW (92.4% seropositive), seropositivity was lower among participants with SOT (30.7%), hematological malignancies (50.0%), autoimmune conditions (79.1%), solid tumors (78.7%), and HIV (79.8%) (P <.01). Factors associated with poor seropositivity included age, greater immunosuppression, time since vaccination, anti-CD20 monoclonal antibodies, and vaccination with BNT162b2 (Pfizer) or adenovirus vector vaccines versus messenger RNA (mRNA)-1273 (Moderna). mRNA-1273 was associated with higher antibody levels than BNT162b2 or adenovirus vector vaccines after adjusting for time since vaccination, age, and underlying condition. Antibody levels were strongly correlated with pseudovirus neutralization titers (Spearman r  = 0.89, P  < .0001), but in seropositive participants with intermediate antibody levels, neutralization titers were significantly lower in immunocompromised individuals versus HCW. Conclusions Antibody responses to COVID-19 vaccines were lowest among SOT and anti-CD20 monoclonal recipients, and recipients of vaccines other than mRNA-1273. Among those with intermediate antibody levels, pseudovirus neutralization titers were lower in immunocompromised patients than HCWs. Additional SARS-CoV-2 preventive approaches are needed for immunocompromised persons, which may need to be tailored to the cause of immunodeficiency. [ABSTRACT FROM AUTHOR]

Risk-reducing mastectomy (RRM) and salpingo-oophorectomy (RRSO) are increasingly used to reduce breast and ovarian cancer risk following BRCA1/BRCA2 testing. However, little is known about how genetic counseling influences decisions about these surgeries. Although previous studies have examined intentions prior to counseling, few have examined RRM and RRSO intentions in the critical window between genetic counseling and test result disclosure. Previous research has indicated that intentions at this time point predict subsequent uptake of surgery, suggesting that much decision-making has taken place prior to result disclosure. This period may be a critical time to better understand the drivers of prophylactic surgery intentions. The aim of this study was to examine predictors of RRM and RRSO intentions. We hypothesized that variables from the Health Belief Model would predict intentions, and we also examined the role of affective factors. Participants were 187 women, age 21–75, who received genetic counseling for hereditary breast and ovarian cancer. We utilized multiple logistic regression to identify independent predictors of intentions. 49.2% and 61.3% of participants reported intentions for RRM and RRSO, respectively. Variables associated with RRM intentions include: newly diagnosed with breast cancer (OR = 3.63, 95% CI = 1.20–11.04), perceived breast cancer risk (OR = 1.46, 95% CI = 1.17–1.81), perceived pros (OR = 1.79, 95% CI = 1.38–2.32) and cons of RRM (OR = 0.81, 95% CI = 0.65–0.996), and decision conflict (OR = 0.80, 95% CI = 0.66–0.98). Variables associated with RRSO intentions include: proband status (OR = 0.28, 95% CI = 0.09–0.89), perceived pros (OR = 1.35, 95% CI = 1.11–1.63) and cons of RRSO (OR = 0.72, 95% CI = 0.59–0.89), and ambiguity aversion (OR = 0.79, 95% CI = 0.65–0.95). These data provide support for the role of genetic counseling in fostering informed decisions about risk management, and suggest that the role of uncertainty should be explored further. [ABSTRACT FROM AUTHOR]

Background: The impact of decision aids on prostate cancer screening outcomes has been inconsistent. Purpose: We assessed whether pre-existing attitudes moderated the impact of decision aids on screening. Methods: Men aged 45-70 (56.2 % Caucasian, 39.9 % African-American) were randomly assigned to a print decision aid ( N = 630), a web decision aid ( N = 631), or usual care ( N = 632). Telephone interviews assessed pro/con screening attitudes and screening behaviors at baseline, 1-month and 13-months post-randomization. Results: Logistic regression analyses revealed significant arm by attitude interactions: Higher baseline cons scores predicted lower screening in the print (OR = 0.60 (95 % CI: 0.40, 0.92)) and web (OR = 0.61 (95 % CI: 0.40, 0.91)) arms but not in usual care (OR = 1.34 (95 % CI: 0.90, 2.00)). Conclusions: The decision aids amplified the impact of men's baseline attitudes about limitations of screening: Compared to the usual care arm, men in both decision aid arms were less likely to be screened when they perceived more limitations of screening. [ABSTRACT FROM AUTHOR]

Background The growing demand for cancer genetic services underscores the need to consider approaches that enhance access and efficiency of genetic counseling. Telephone delivery of cancer genetic services may improve access to these services for individuals experiencing geographic (rural areas) and structural (travel time, transportation, childcare) barriers to access. Methods This cluster-randomized clinical trial used population-based sampling of women at risk for BRCA1/2 mutations to compare telephone and in-person counseling for: 1) equivalency of testing uptake and 2) noninferiority of changes in psychosocial measures. Women 25 to 74 years of age with personal or family histories of breast or ovarian cancer and who were able to travel to one of 14 outreach clinics were invited to participate. Randomization was by family. Assessments were conducted at baseline one week after pretest and post-test counseling and at six months. Of the 988 women randomly assigned, 901 completed a follow-up assessment. Cluster bootstrap methods were used to estimate the 95% confidence interval (CI) for the difference between test uptake proportions, using a 10% equivalency margin. Differences in psychosocial outcomes for determining noninferiority were estimated using linear models together with one-sided 97.5% bootstrap CIs. Results Uptake of BRCA1/2 testing was lower following telephone (21.8%) than in-person counseling (31.8%, difference = 10.2%, 95% CI = 3.9% to 16.3%; after imputation of missing data: difference = 9.2%, 95% CI = -0.1% to 24.6%). Telephone counseling fulfilled the criteria for noninferiority to in-person counseling for all measures. Conclusions BRCA1/2 telephone counseling, although leading to lower testing uptake, appears to be safe and as effective as in-person counseling with regard to minimizing adverse psychological reactions, promoting informed decision making, and delivering patient-centered communication for both rural and urban women. [ABSTRACT FROM AUTHOR]

Background: It is recommended that persons having familial risk of colorectal cancer begin regular colonoscopy screening at an earlier age than those in the general population. However, many individuals at increased risk do not adhere to these screening recommendations. Purpose: The goal of this study was to examine cognitive, affective, social, and behavioral motivators of colonoscopy intention among individuals at increased risk of familial colorectal cancer. Methods: Relatives of colorectal cancer cases ( N = 481) eligible for colonoscopy screening completed a survey assessing constructs from several theoretical frameworks including fear appeal theories. Results: Structural equation modeling indicated that perceived colorectal cancer risk, past colonoscopy, fear of colorectal cancer, support from family and friends, and health-care provider recommendation were determinants of colonoscopy intention. Conclusions: Future interventions to promote colonoscopy in this increased risk population should target the factors we identified as motivators. (ClinicalTrials.gov number NCT01274143). [ABSTRACT FROM AUTHOR]

Although single nucleotide polymorphism (SNP) testing for disease susceptibility is commercially available, translational studies are necessary to understand how to communicate genomic information and potential implications for public health. We explored attitudes about and initial responses to genomic testing for colon cancer risk. Following development of the educational materials, we offered testing for three colon cancer SNPs in a pilot study with primary care patients. Participants completed pre- and post-test sessions and interviews. We analyzed interview transcripts with qualitative software using thematic analysis. All 20 participants opted for SNP testing. Qualitative analysis identified several themes: Motivations for SNP Testing, Before/After: Meaning of Results, Emotional Responses to SNP Results, and Genomic Literacy/Information Delivery. Results demonstrate that individuals will pursue SNP testing in the context of pre- and post-test education. SNP results may influence health behaviors like healthy eating and exercise yet did not appear to impact colon cancer screening intentions. [ABSTRACT FROM AUTHOR]

This study utilized data from an ongoing randomized controlled trial to compare a culturally tailored video promoting positive attitudes toward mammography among Chinese immigrant women to a linguistically appropriate generic video and print media. Intervention development was guided by the Health Belief Model. Five hundred and ninety-two immigrant Chinese Americans from the metropolitan Washington, DC, and New York City areas completed telephone interviews before and after intervention. Changes in knowledge, Eastern views of health care (fatalism and self-care), health beliefs (perceived susceptibility, severity, benefits and barriers) and screening intentions were measured. Results showed that both videos improved screening knowledge, modified Eastern views of health care, reduced perceived barriers and increased screening intentions relative to print media (all P < 0.05). The generic video increased screening intention twice as much as the cultural video, although subgroup analysis showed the increase was only significant in women aged 50–64 years. Only Eastern views of health care were negatively associated with screening intentions after adjusting for all baseline covariates. These data suggest that a theoretically guided linguistically appropriate video that targets women from various ethnic groups is as efficacious in modifying attitudes toward mammography screening as a video that is exclusively tailored for Chinese immigrant women. [ABSTRACT FROM PUBLISHER]

Given the high incidence of breast cancer and that more than half of cases remain unexplained, the need to identify risk factors for breast cancer remains. Deficiencies in DNA repair capacity have been associated with cancer risk. The mutagen sensitivity assay (MSA), a phenotypic marker of DNA damage response and repair capacity, has been consistently shown to associate with the risk of tobacco-related cancers. Methods: In a case–control study of 164 women with breast cancer and 165 women without the disease, we investigated the association between mutagen sensitivity and risk of breast cancer using bleomycin as the mutagen. Results: High bleomycin sensitivity (>0.65 breaks per cell) was associated with an increased risk of breast cancer, with an adjusted odds ratio of 2.8 [95% confidence interval (CI) = 1.7–4.5]. Risk increased with greater number of bleomycin-induced chromosomal breaks (Ptrend = 0.01). The association between bleomycin sensitivity and breast cancer risk was greater for women who were black, premenopausal and ever smokers. Our data also suggest that bleomycin sensitivity may modulate the effect of tobacco smoking on breast cancer risk. Among women with hypersensitivity to bleomycin, ever smokers had a 1.6-fold increased risk of breast cancer (95% CI = 0.6–3.9, P for interaction between tobacco smoking and bleomycin sensitivity = 0.32). Conclusions: Increased bleomycin sensitivity is significantly associated with an increased risk of breast cancer in both pre- and postmenopausal women. Our observation that the effect of tobacco smoking on breast cancer risk may differ based on mutagen sensitivity status warrants further investigation. [ABSTRACT FROM PUBLISHER]

Abstract: Background and aims: We previously reported that IBD patients who are non-responders to thiopurines with preferential shunting of metabolites to hepatotoxic 6-methylmercaptopurine ribonucleotides compared to 6-thioguanine nucleotides can reverse the ratio of 6-MMP/6-TGN and respond to thiopurines with the addition of allopurinol. The objective of this study is to report long term efficacy and safety, along with results for an additional 11 patients. Methods: Retrospective chart review of patients at the University of Chicago IBD Center treated with allopurinol in addition to thiopurines. Results: Twenty five patients with Crohn''s disease or ulcerative colitis were enrolled. Within the first month of therapy 6-TGN metabolite levels increased from a mean of 186.5±17.4 (SE) to 352.8±37.8 pmol/8×108 (p =0.0001). Over the same period 6-MMP levels decreased from a mean of 11,966±1697 to 2004±536 pmol/8×108 (p <0.0001). The mean daily dosage of prednisone decreased from 19.8±3.8 mg to 5.3±2.7 mg (p =0.03). Thirteen patients have a minimum of one year follow-up. Nine of these thirteen patients have continued on therapy for at least 2 years. All thirteen of these patients continue to be in clinical remission at the last follow-up visit. No patients have had evidence of sustained thrombocytopenia or abnormal liver enzymes. Conclusions: In AZA/6-MP non-responders with increased 6-MMP/6-TGN ratios, addition of allopurinol continues to demonstrate safety and efficacy for long-term maintenance and steroid-sparing in IBD. [Copyright &y& Elsevier]

Objective Predictive genetic testing for hereditary breast/ovarian cancer risk (BRCA1/2 testing) is not recommended for minor children due to its lack of immediate medical benefit and potential psychological risk. Yet, tested mothers are often interested in learning about their children's cancer risks via pediatric BRCA1/2 testing, raising a host of bioethical concerns. However, no reliable or valid tool exists to formally gauge parents' interest in such testing. The aim of this study was to develop and evaluate a new measure for use in genetic research and consultation, known as the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS). Methods After pretest genetic counseling and provision of a blood sample for BRCA1/2 testing, the P-TAS was administered to 187 mothers of children between 8and 21-years-old. The measure was also given to 96 of the mothers' nontested co-parents. Analyses of the factor structure and psychometric properties of the measure were performed in mothers and confirmed in their co-parents. Results The two factors of the P-TAS, labeled Attitudes and Beliefs (Factor 1) and Decision Making and Communication (Factor 2), accounted for 62.9% of the variance and were reliable (Cronbach's coefficient αs = .70 and .90, respectively); the structure and properties were largely confirmed among co-parents. Validity was indicated through its convergence with related constructs. Conclusions This new tool may be integrated into genetic counseling research to better assess parents' attitudes and interests in pediatric BRCA1/2 testing. Such information may help guide ongoing discussions about the appropriateness of testing in adolescent or young adult children. [ABSTRACT FROM AUTHOR]

Background: Despite the potential importance of communication about genetic testing between test participants and their significant others, little is known about social support and communication between women undergoing BRCA1 and BRCA2 testing and their partners.Purpose: The aims of this longitudinal study were to examine communication about genetic testing during and following testing and to evaluate whether communication is associated with psychological distress reported by test participants and their partners.Methods: Participants were 153 women who were undergoing genetic testing and 118 partners of women undergoing testing. Relationship communication and distress were evaluated at the time of pretest education and 6 months postdisclosure.Results: Overall, the decision to undergo testing was discussed by the majority of test participants and partners, and most couples felt their partners were supportive. Most women disclosed their results to their partners. Longitudinal analyses suggested that less support and protective buffering were associated with greater distress 6 months postdisclosure among test participants, whereas lower comfort in sharing concerns and partner support were associated with lower distress 6 months postdisclosure among partners.Conclusions: The results of this study suggest that the majority of couples respond supportively during the test experience, but for a small subset of couples the process can strain the relationship. Partner support during this process is important, particularly for test participants dealing with an uninformative test result. [ABSTRACT FROM AUTHOR]

The authors comment on a report by J. L. Caswell-Jin et al on cascade testing in relatives at risk for hereditary cancer. Topics include benefits conferred by multigene cancer panel testing (MCPT) in relatives at risk for a familial pathogenic variant (PV), risks and limitations associated with MCPT, and public health impact of the implementation of cascade testing.

Presents a letter to the editor about the prostate cancer screening at the U.S. National Cancer Institute Comprehensive and Clinical Cancer Centers.