Uptake of genetic counseling and multi-gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing.

Women with a personal history of breast or ovarian cancer who previously had BRCA1/2 testing now have the opportunity for additional genetic risk information through multi-gene panel testing. However, little is known about women's receptivity to further contact and uptake of genetic counseling and updated genetic testing. Utilizing a clinic database to identify potential participants, we prospectively contacted women in the United States with a personal and/or family history of breast or ovarian cancer who had negative BRCA1/2 testing, which was performed primarily between 2011 and 2018. Eligible and interested participants were scheduled for a genetic counseling appointment to discuss updated genetic testing using a multi-gene panel. We attempted to contact 455 participants, screened 203 (45%), and 103 (23%) completed a pre-test genetic counseling visit to discuss updated testing. Of these, 88 participants had updated multi-gene panel testing. Participants had an average age of 59 years, and most (78%) had breast cancer with an average age of 45 at diagnosis. The majority (97%) of participants were white. Of participants who underwent panel testing, 13% (n = 11) had at least one pathogenic variant identified. Most participants (86%) had an out-of-pocket cost of $100 or less for their panel. There is a sizable population of women with a personal and/or family history of breast or ovarian cancer and negative BRCA1/2 test results who would qualify for updated multi-gene panel testing. In our study, 59% of those reached who were eligible completed a pre-test genetic counseling visit. Clinics could consider an outreach program to offer genetic counseling and updated genetic testing. Supports for this type of effort may include coordinators and genetic counseling assistants and an available database with patients' contact information and prior genetic test results. Updated testing allows women more information about their risk and may expand the value of genetic counseling.

Health communication roles in Latino, Pacific Islander, and Caucasian Families: A qualitative investigation.

Family communication about health is critical for the dissemination of information that may improve health management of all family members. Communication about health issues, attitudes, and behaviors in families is associated with life expectancy as well as quality of life for family members. This study addresses family communication about health by examining individual roles for family health communication and factors related to these roles, among families of three different racial/ethnic groups: Caucasians, Latinos, and Pacific Islanders. Data were collected from 60 participants recruited as 30 family dyads, 10 from each group, through qualitative semistructured interviews. Interviews were conducted with each participant separately and then together in a dyadic interview. Two coders independently coded interview transcripts using NVivo 11. Results identified the family health communication roles of collector, disseminator, health educator, and researcher. We also identified several factors related to these roles using the lens of family systems theory-the presence of chronic conditions in the family, previous experience, medical education, and family hierarchy. Findings demonstrate many similarities and relatively few differences in the family health communication roles and the related factors among the families of different race/ethnicity. Conclusions highlight implications for future research and intervention development.

Cancer communication research in the era of genomics and precision medicine: a scoping review.

Effective use of genetic and genomic data in cancer prevention and treatment depends on adequate communication with patients and the public. Although relevant empirical work has emerged, the scope and outcomes of this communication research have not been characterized. We conducted a comprehensive scoping review of recent published research (2010-2017) on communication of cancer-related genetic and genomic testing (CGT) information. Searches in six databases revealed 9243 unique records; 513 papers were included. Most papers utilized an observational quantitative design; fewer utilized an experimental design. More attention has been paid to outcomes of CGT results disclosure than to decision making regarding CGT uptake or the process of results disclosure. Psychosocial outcomes were most common across studies. This literature has a strong focus on BRCA1/2, with few papers focused on Lynch syndrome or next-generation technologies. Women, Caucasians, older adults, and those of higher socioeconomic status were overrepresented. Research gaps identified include the need for studies on the process of CGT communication; examining behavioral, decision making, and communication outcomes; and inclusion of diverse populations. Addressing these gaps can help improve the use of genomics in cancer control and reduce disparities in access to and use of CGT.

Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age.

Genetic test results have medical implications beyond the patient that extend to biological family members. We examined psychosocial and clinical factors associated with communication of genetic test results within families. Women (N = 1080) diagnosed with breast cancer at age 40 or younger completed an online survey; 920 women that reported prior cancer genetic testing were included in analysis. We examined the proportion of immediate family members to whom they communicated genetic test results, and built multivariable regression models to examine clinical and psychosocial variables associated with the proportion score. Participants were most likely to communicate test results to their mother (83 %) and least likely to their son (45 %). Participants who carried a BRCA mutation (OR = 1.34; 95 % CI = 1.06, 1.70), had higher interest in genomic information (OR = 1.55; 95 % CI = 1.26, 1.91) and lower genetic worry (OR = 0.91; 95 % CI = 0.86, 0.96) communicated genetic test results to a greater proportion of their immediate family members. Participants with a BRCA1/2 mutation shared their genetic test results with more male family members (OR = 1.72; 95 % CI = 1.02, 2.89). Our findings suggest that patients with high worry about genetic risks, low interest in genomic information, or receive a negative genetic test result will likely need additional support to encourage family communication.

Relationships Between Health Literacy and Genomics-Related Knowledge, Self-Efficacy, Perceived Importance, and Communication in a Medically Underserved Population.

The increasing importance of genomic information in clinical care heightens the need to examine how individuals understand, value, and communicate about this information. Based on a conceptual framework of genomics-related health literacy, we examined whether health literacy was related to knowledge, self-efficacy, and perceived importance of genetics and family health history (FHH) and communication about FHH in a medically underserved population. The analytic sample was composed of 624 patients at a primary care clinic in a large urban hospital. About half of the participants (47%) had limited health literacy; 55% had no education beyond high school, and 58% were Black. In multivariable models, limited health literacy was associated with lower genetic knowledge (ß = -0.55, SE = 0.10, p < .0001), lower awareness of FHH (odds ratio [OR] = 0.50, 95% confidence interval [CI; 0.28, 0.90], p = .020), and greater perceived importance of genetic information (OR = 1.95, 95% CI [1.27, 3.00], p = .0022) but lower perceived importance of FHH information (OR = 0.47, 95% CI [0.26, 0.86], p = .013) and more frequent communication with a doctor about FHH (OR = 2.02, 95% CI [1.27, 3.23], p = .0032). The findings highlight the importance of considering domains of genomics-related health literacy (e.g., knowledge, oral literacy) in developing educational strategies for genomic information. Health literacy research is essential to avoid increasing disparities in information and health outcomes as genomic information reaches more patients.

Predictors of Women's Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members.

INTRODUCTION: Many individuals who previously received negative genetic test results are eligible for updated testing. This study examined intention to communicate updated genetic test results to relatives in participants who previously received negative genetic test results. METHODS: Women with a personal or family history of breast or ovarian cancer who tested negative for BRCA1/2 before 2013 were enrolled between April 2018 and October 2019. Proportions were calculated to assess intention to communicate updated genetic test results to living immediate family, extended family, and all family. Potential predictors of intentions from the theory of planned behavior (attitudes, subjective norms, perceived behavioral control) were assessed. The three outcomes were analyzed using generalized linear models with a quasi-binomial probability distribution. RESULTS: 110 women completed the baseline assessment prior to updated testing. Participants intended to communicate genetic test results to 90% of immediate family, 51% of extended family, and 66% of all living relatives. Participants with higher subjective norms (aOR = 1.93, 95% CI: 1.08-3.57) had higher intentions to communicate genetic test results to extended family, while participants with more positive attitudes (aOR = 1.27, 95% CI: 1.01-1.60) had higher intentions to communicate to all family. Placing higher importance on genetic information was associated with higher intentions to communicate to immediate family (aOR = 1.40, 95% CI: 1.06-1.83). Lower subjective numeracy was associated with higher intentions to communicate to extended family (aOR = 0.50, 95% CI: 0.32-0.76). CONCLUSION: Attitudes and subjective norms were predictors of intention to communicate updated genetic information to at-risk biological relatives, and predictors may vary by degree of relationship.

Preferences for learning different types of genome sequencing results among young breast cancer patients: Role of psychological and clinical factors.

The growing importance of genome sequencing means that patients will increasingly face decisions regarding what results they would like to learn. The present study examined psychological and clinical factors that might affect these preferences. 1,080 women diagnosed with breast cancer at age 40 or younger completed an online survey. We assessed their interest in learning various types of genome sequencing results: risk of preventable disease or unpreventable disease, cancer treatment response, uncertain meaning, risk to relatives' health, and ancestry/physical traits. Multivariable logistic regression was used to examine whether being "very" interested in each result type was associated with clinical factors: BRCA1/2 mutation status, prior genetic testing, family history of breast cancer, and psychological factors: cancer recurrence worry, genetic risk worry, future orientation, health information orientation, and genome sequencing knowledge. The proportion of respondents who were very interested in learning each type of result ranged from 16% to 77%. In all multivariable models, those who were very interested in learning a result type had significantly higher knowledge about sequencing benefits, greater genetic risks worry, and stronger health information orientation compared to those with less interest (p-values < .05). Our findings indicate that high interest in return of various types of genome sequencing results was more closely related to psychological factors. Shared decision-making approaches that increase knowledge about genome sequencing and incorporate patient preferences for health information and learning about genetic risks may help support patients' informed choices about learning different types of sequencing results.

Communication of cancer-related genetic and genomic information: A landscape analysis of reviews.

Cancer-related genetic and genomic testing (CGT) is changing cancer care by personalizing care options, leading to an era of precision medicine. Advances in and increased use of CGT add complexity to clinical communication. This landscape analysis assessed published reviews of communication issues related to CGT and discusses implications for practice and behavioral research. A comprehensive electronic literature search was conducted of peer-reviewed literature reviews on studies related to CGT communication published between January 2010 and January 2017, resulting in a final sample of 24 reviews. Reviews were categorized, with overlaps, into four domains across the genetic testing communication continuum. Reviews on CGT-related knowledge, attitudes, and perceptions (n = 8) found that despite substantial public interest, their knowledge and awareness remains low. Providers also reported insufficient knowledge and overall caution, particularly regarding direct-to-consumer (DTC) genetic testing. Reviews of decision-making about CGT and test uptake (n = 8) identified individual, interpersonal, and systems-level barriers to uptake. Reviews of patient-provider CGT communication (n = 8) revealed limited communication and little empirical research on outcomes of communication or efforts at improving clinical and family communication. There were mixed findings in reviews (n = 15) on the psychological and behavioral impact of CGT, and DTC testing particularly had little effect on behaviors. Taken together, there is very little extant research in CGT in minority and underserved communities. In order for scientific advances in CGT to translate into equitable, patient-centered care, behavioral research, including health literacy and communication, plays critical roles.

Patterns of family communication and preferred resources for sharing information among families with a Lynch syndrome diagnosis.

OBJECTIVES: To explore patterns of communication among families with a Lynch syndrome diagnosis and understand what resources could facilitate family communication. METHODS: 127 probands (i.e., first person in family with identified mutation) and family members participated in semi-structured interviews about: how they learned about the Lynch syndrome diagnosis, with whom they shared genetic test results, confidence in sharing results with other family members, and helpfulness of educational resources. RESULTS: Both probands and family members were most likely to share genetic test results with parents and siblings, and least likely to share results with aunts, uncles, and cousins. Most participants felt very confident sharing their test results with family members, but reported that certain topics such as cancer risk were challenging to convey. Probands reported the most helpful resources to be access to a specialty clinic or website, while family members described general printed materials as most helpful. CONCLUSIONS: Families affected by Lynch syndrome may experience barriers to communication with more distant relatives, and may benefit from receiving specific resources (e.g., websites about Lynch syndrome, print materials) to facilitate family communication. PRACTICE IMPLICATIONS: Providers could emphasize the need to share information with more distant family members and provide appropriate supportive resources.

How, who, and when: preferences for delivery of genome sequencing results among women diagnosed with breast cancer at a young age.

BACKGROUND: The increasing use of genome sequencing with patients raises a critical communication challenge: return of secondary findings. While the issue of what sequencing results should be returned to patients has been examined, much less attention has been paid to developing strategies to return these results in ways that meet patients' needs and preferences. To address this, we investigated delivery preferences (i.e., who, how, when) for individual genome sequencing results among women diagnosed with breast cancer at age 40 or younger. METHODS: We conducted 60 semistructured, in-person individual interviews to examine preferences for the return of different types of genome sequencing results and the reasons underlying these preferences. Two coders independently coded interview transcripts; analysis was conducted using NVivo 10. RESULTS: The major findings from the study were that: (1) many participants wanted sequencing results as soon as possible, even at the time of breast cancer diagnosis; (2) participants wanted an opportunity for an in-person discussion of results; and (3) they put less emphasis on the type of person delivering results than on the knowledge and communicative skills of that person. Participants also emphasized the importance of a results return process tailored to a patient's individual circumstances and one that she has a voice in determining. CONCLUSIONS: A critical goal for future transdisciplinary research including clinicians, patients, and communication researchers may be to develop decision-making processes to help patients make decisions about how they would like various sequencing results returned.