Behavioral and psychosocial responses to genomic testing for colorectal cancer risk.

We conducted a translational genomic pilot study to evaluate the impact of genomic information related to colorectal cancer (CRC) risk on psychosocial, behavioral and communication outcomes. In 47 primary care participants, 96% opted for testing of three single nucleotide polymorphisms (SNPs) related to CRC risk. Participants averaged 2.5 of 6 possible SNP risk alleles (10% lifetime risk). At 3-months, participants did not report significant increases in cancer worry/distress; over half reported physical activity and dietary changes. SNP risk scores were unrelated to behavior change at 3-months. Many participants (64%) shared their SNP results, including 28% who shared results with a physician. In this pilot, genomic risk education, including discussion of other risk factors, appeared to impact patients' health behaviors, regardless of the level of SNP risk. Future work can compare risk education with and without SNP results to evaluate if SNP information adds value to existing approaches.

Development of a novel rapid response event review process for quality improvement.

INTRODUCTION: Rapid response team (RRT) and code activation events occur relatively commonly in inpatient settings. RRT systems have been the subject of a significant amount of analysis, although this has been largely focused on the impact of RRT system implementation and RRT events on patient outcomes. There is reason to believe that the structured assessment of RRT and code events may be an effective way to identify opportunities for system improvement, although no standardised approach to event analysis is widely accepted. We developed and refined a protocolised system of RRT and code event review, focused on sustainable, timely and high value event analysis meant to inform ongoing improvement activities. METHODS: A group of clinicians with expertise in process and quality improvement created a protocolised analytic plan for rapid response event review, piloted and then iteratively optimised a systematic process which was applied to all subsequent cases to be reviewed. RESULTS: Hospitalist reviewers were recruited and trained in a methodical approach. Each reviewer performed a chart review to summarise RRT events, and collect specific variables for each case (coding). Coding was then reviewed for concordance, at monthly interdisciplinary group meetings and 'Action Items' were identified and considered for implementation. In any 12-month period starting in 2021, approximately 12-15 distinct cases per month were reviewed and coded, offering ample opportunities to identify trends and patterns. CONCLUSION: We have developed an innovative process for ongoing review of RRT-Code events. The review process is easy to implement and has allowed for the timely identification of high value improvement opportunities.

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.

"Is it really worth it to get tested?": primary care patients' impressions of predictive SNP testing for colon cancer.

Despite significant progress in genomics research over the past decade, we remain years away from the integration of genomics into routine clinical care. As an initial step toward the implementation of genomic-based medicine, we explored primary care patients' ideas about genomic testing for common complex diseases to help develop future patient education materials and interventions to communicate genomic risk information. We conducted a mixed-methods study with participants from a large primary care clinic. Within four focus groups, we used a semi-structured discussion guide and administered brief pre- and post- discussion quantitative surveys to assess participants' interest, attitudes, and preferences related to testing and receipt of test results. Prior to the discussion, moderators presented a plain-language explanation of DNA and genetics, defined "SNP", and highlighted what is known and unknown about the risks associated with testing for SNPs related to colorectal cancer risk. We used the NVIVO 8 software package to analyze the transcripts from the focus group discussions. The majority of participants (75 %) were "very" or "somewhat interested" in receiving information from a colon cancer SNP test, even after learning about and discussing the small and still clinically uncertain change in risk conferred by SNPs. Reported interest in testing was related to degree of risk conferred, personal risk factors, family history, possible implications for managing health /disease prevention and curiosity about genetic results. Most people (85 %) preferred that genetic information be delivered in person by a healthcare or genetics professional rather than through print materials or a computer. These findings suggest that patients may look to genetic counselors, physicians or other healthcare professionals as gatekeepers of predictive genomic risk information.

Through the lens of culture: quality of life among Latina breast cancer survivors.

Latinas have lower quality of life than Caucasian cancer survivors but we know little about factors associated with quality of life in this growing population. Bilingual staff conducted interviews with a national cross-sectional sample of 264 Latina breast cancer survivors. Quality of life was measured using the Functional Assessment of Cancer Therapy-Breast (FACT-B). Regression models evaluated associations between culture, social and medical context and overall quality of life and its subdomains. Latina survivors were 1-5 years post-diagnosis and reported a lower mean quality of life score compared to other published reports of non-Latina survivors (M = 105; SD = 19.4 on the FACT-B). Culturally based feelings of breast cancer-related stigma and shame were consistently related to lower overall quality of life and lower well-being in each quality of life domain. Social and medical contextual factors were independently related to quality of life; together cultural, social and medical context factors uniquely accounted for 62 % of the explained model variance of overall quality of life (Adjusted R (2) = 0.53, P < 0.001). Similar relationships were seen for quality of life subdomains in which cultural, social, and medical contextual variables independently contributed to the overall variance of each final model: physical well-being (Adjusted R (2) = 0.23, P < .001), social well-being (Adjusted R (2) = 0.51, P < 0.001), emotional well-being (Adjusted R (2) = 0.28, P < 0.001), functional well-being (Adjusted R (2) = 0.41, P < 0.001), and additional breast concerns (Adjusted R (2) = 0.40, P < 0.001). Efforts to improve Latinas' survivorship experiences should consider cultural, social, and medical contextual factors to close existing quality of life gaps between Latinas and other survivors.

Practical Tips for Establishing Partnerships With Academic Researchers: A Resource Guide for Community-Based Organizations.

BACKGROUND: Research exists on strategies for successful conduct of community-based participatory research (CBPR). Unfortunately, few published resources are available to advise community-based organizations (CBOs) on preparation for and engagement in CBPR. OBJECTIVES: We aimed to create a resource for CBOs that describes how an organization can prepare for and participate in CBPR. METHODS: We used a case study approach of one CBO with a decade-long history of collaboration with academic researchers. We identified lessons learned through a retrospective review of organizational records and the documentation of experiences by CBO leadership and research partners. The findings were then labeled according to CBPR Partnership Readiness Model dimensions. LESSONS LEARNED: The review of CBO documents and key informant interviews yielded ten practical tips to increase organizational readiness for and engagement in CBPR. CONCLUSIONS: By understanding the best practices for organizational readiness for and participation in CPBR, CBOs will be better equipped to actively participate in community-academic partnerships.

Mammographic breast density as a risk factor for breast cancer: awareness in a recently screened clinical sample.

BACKGROUND: Breast density is an established, independent risk factor for breast cancer. Despite this, density has not been included in standard risk models or routinely disclosed to patients. However, this is changing in the face of legal mandates and advocacy efforts. Little information exists regarding women's awareness of density as a risk factor, their personal risk, and risk management options. METHODS: We assessed awareness of density as a risk factor and whether sociodemographic variables, breast cancer risk factors. and perceived breast cancer risk were associated with awareness in 344 women with a recent screening mammogram at a tertiary care center. FINDINGS: Overall, 62% of women had heard about density as a risk factor and 33% had spoken to a provider about breast density. Of the sample, 18% reported that their provider indicated that they had high breast density. Awareness of density as a risk factor was greater among White women and those with other breast cancer risk factors. CONCLUSION: Our results suggest that although a growing number of women are aware of breast density as a risk factor, this awareness varies. Growing mandates for disclosure suggest the need for patient education interventions for women at increased risk for the disease and to ensure all women are equally aware of their risks.

Discussing race-related limitations of genomic testing for colon cancer risk: implications for education and counseling.

This study examines communication about limitations of genomic results interpretation for colon cancer risk during education and counseling of minority participants. As part of a larger study conducted from 2010 to 2012, participants recruited from a large primary care clinic were offered testing for a research panel of 3 genomic markers (single nucleotide polymorphisms or SNPs) for colorectal cancer risk. Genetic counselors conducted pre- and post-test sessions which included discussion of limitations of result interpretation due to the lack of racial/ethnic diversity in research populations from which risk data are derived. Sessions were audio-recorded, transcribed and thematically analyzed. Many participants did not respond directly to this limitation. Among the participants that responded directly to this race-related limitation, many responses were negative. However, a few participants connected the limited minority information about SNPs with the importance of their current research participation. Genetic counselor discussions of this limitation were biomedically focused with limited explanations for the lacking data. The communication process themes identified included: low immediacy (infrequent use of language directly involving a participant), verbal dominance (greater speaking ratio of the counselor to the patient) and wide variation in the degree of interactivity (or the amount of turn-taking during the discussion). Placed within the larger literature on patient-provider communication, these present results provide insight into the dynamics surrounding race-related educational content for genomic testing and other emerging technologies. Clinicians may be better able to engage patients in the use of new genomic technology by increasing their awareness of specific communication processes and patterns during education or counseling sessions.

Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer.

PURPOSE: Although guidelines recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly offered by telephone. As genomic testing becomes more common, evaluating alternative delivery approaches becomes increasingly salient. We tested whether telephone delivery of BRCA1/2 genetic counseling was noninferior to in-person delivery. PATIENTS AND METHODS: Participants (women age 21 to 85 years who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area) were randomly assigned to usual care (UC; n = 334) or telephone counseling (TC; n = 335). UC participants received in-person pre- and post-test counseling; TC participants completed all counseling by telephone. Primary outcomes were knowledge, satisfaction, decision conflict, distress, and quality of life; secondary outcomes were equivalence of BRCA1/2 test uptake and costs of delivering TC versus UC. RESULTS: TC was noninferior to UC on all primary outcomes. At 2 weeks after pretest counseling, knowledge (d = 0.03; lower bound of 97.5% CI, -0.61), perceived stress (d = -0.12; upper bound of 97.5% CI, 0.21), and satisfaction (d = -0.16; lower bound of 97.5% CI, -0.70) had group differences and confidence intervals that did not cross their 1-point noninferiority limits. Decision conflict (d = 1.1; upper bound of 97.5% CI, 3.3) and cancer distress (d = -1.6; upper bound of 97.5% CI, 0.27) did not cross their 4-point noninferiority limit. Results were comparable at 3 months. TC was not equivalent to UC on BRCA1/2 test uptake (UC, 90.1%; TC, 84.2%). TC yielded cost savings of $114 per patient. CONCLUSION: Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs.

Translational Genomic Research: Protocol Development and Initial Outcomes following SNP Testing for Colon Cancer Risk.

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.

Longitudinal changes in patient distress following interactive decision aid use among BRCA1/2 carriers: a randomized trial.

BACKGROUND: Increasingly, women with a strong family history of breast cancer are seeking genetic testing as a starting point to making significant decisions regarding management of their cancer risks. Individuals who are found to be carriers of a BRCA1 or BRCA2 mutation have a substantially elevated risk for breast cancer and are frequently faced with the decision of whether to undergo risk-reducing mastectomy. OBJECTIVE: In order to provide BRCA1/2 carriers with ongoing decision support for breast cancer risk management, a computer-based interactive decision aid was developed and tested against usual care in a randomized controlled trial. DESIGN: . Following genetic counseling, 214 female (aged 21-75 years) BRCA1/2 mutation carriers were randomized to usual care (UC; n = 114) or usual care plus decision aid (DA; n = 100) arms. UC participants received no further intervention; DA participants were sent the CD-ROM-based decision aid to view at home. MAIN OUTCOME MEASURES: The authors measured general distress, cancer-specific distress, and genetic testing-specific distress at 1-, 6-, and 12-month follow-up time points postrandomization. RESULTS: Longitudinal analyses revealed a significant longitudinal impact of the DA on cancer-specific distress (B = 5.67, z = 2.81, P = 0.005), which varied over time (DA group by time; B = -2.19, z = -2.47, P = 0.01), and on genetic testing-specific distress (B = 5.55, z = 2.46, P = 0.01), which also varied over time (DA group by time; B = -2.46, z = -2.51, P = 0.01). Individuals randomized to UC reported significantly decreased distress in the month following randomization, whereas individuals randomized to the DA maintained their postdisclosure distress over the short term. By 12 months, the overall decrease in distress between the 2 groups was similar. CONCLUSION: This report provides new insight into the long-term longitudinal effects of DAs.