Racial disparities in cancer genetic counseling encounters: study protocol for investigating patient-genetic counselor communication in the naturalistic clinical setting using a convergent mixed methods design.

BACKGROUND: Despite decades of effort to reduce racial cancer disparities, Black people continue to die at higher rates from cancer than any other U.S. racial group. Because prevention is a key to the cost-effective and long-term control of cancer, the potential for cancer genetic counseling to play a central role in reducing racial cancer disparities is high. However, the benefits of genetic counseling are not equitable across race. Only 2% of genetic counselors self-identify as Black/African American, so most genetic counseling encounters with Black patients are racially discordant. Patients in racially discordant medical interactions tend to have poorer quality patient-provider communication and receive suboptimal clinical recommendations. One major factor that contributes to these healthcare disparities is racial bias. Drawing on findings from prior research, we hypothesize that genetic counselor providers' implicit racial prejudice will be associated negatively with the quality of patient-provider communication, while providers' explicit negative racial stereotypes will be associated negatively with the comprehensiveness of clinical discussions of cancer risk and genetic testing for Black (vs. White) patients. METHODS: Using a convergent mixed methods research design, we will collect data from at least 15 genetic counseling providers, from two different institutions, and their 220 patients (approximately equal number of Black and White patients per provider) whose appointments are for a hereditary cancer condition. The data sources will include two provider surveys, two patient surveys, video- and/or audio-recordings of genetic counseling encounters, and medical chart reviews. The recorded cancer genetic counseling in-person and telehealth encounters will be analyzed both qualitatively and quantitatively to assess the quality of patient-provider communication and the comprehensiveness of clinical discussion. Those data will be linked to pre- and post-encounter survey data and data from medical chart reviews to test our hypotheses. DISCUSSION: Findings from this multi-site study will highlight specific aspects of cancer genetic counseling encounters (patient-provider communication and clinical recommendations) that are directly associated with patient-centered outcomes (e.g., satisfaction, trust, genetic testing completion). Patient-provider communication and clinical recommendations are modifiable factors that can be integrated into current genetic counseling training curricula and thus can have immediate impact on genetic counseling training and practice.

Implicit and explicit racial prejudice and stereotyping toward Black (vs. White) Americans: The prevalence and variation among genetic counselors in North America.

Research has shown that patient experiences and outcomes of genetic counseling are not equitable across racial categories, disadvantaging Black patients relative to White patients. One major factor contributing to such racial disparities might be genetic counselor racial bias. The present study examined the prevalence of and variation in racial bias toward Black (vs. White) Americans among genetic counselors in North America. This study extends the current literature of racial disparities in experiences and outcomes of genetic counseling by distinguishing prejudice (negative feelings or attitudes) and stereotyping (beliefs) at the implicit and explicit levels as well as by including both certified genetic counselors and genetic counseling trainees. Two-hundred and fifteen genetic counselors (107 genetic counselors Board-certified by the American Board of Genetic Counseling, 108 genetic counseling trainees from Accreditation Council for Genetic Counseling accredited programs) completed four measures in a random order: the Race Implicit Association Test (IAT, for implicit prejudice), feeling thermometer (for explicit prejudice), the Medical Cooperativeness IAT (for implicit stereotyping), and a self-report measure of explicit stereotypes (for explicit stereotyping). On average, genetic counselors (both certified genetic counselors and genetic counseling trainees) were slightly to moderately in favor of White Americans over Black Americans at the implicit level. They were also slightly more likely to associate "medically cooperative" stereotypes with White Americans more than Black Americans implicitly. In contrast, genetic counselors, on average, did not display either explicit prejudice or explicit negative stereotyping, which may reflect social desirability concerns among genetic counselors. However, genetic counselors as a group strongly endorsed stereotypes related to mistrust (mistrustful of the healthcare system, skeptical of genetic testing, mistrustful of genetic counselors) to be more true for Black (vs. White) Americans. Finally, our study revealed relatively large variability in each type of bias across genetic counselors. Future research should examine how such variability in each type of bias is associated with patient experiences and outcomes of genetic counseling.

An exploration of cultural competency training and genetic counselors' racial biases.

Research shows genetic counselors generally have pro-White implicit biases-both prejudice and stereotyping. Cultural competency training aims to foster equitable beliefs, behaviors, and attitudes in cross-cultural genetic counseling sessions, including those that are racially discordant (genetic counselors and patients are from different racial backgrounds). Therefore, cultural competency training has the potential to mitigate bias and reduce disparities. Here, we report the prevalence of cultural competency training among genetic counselors and associations between recency of training and counselors' racial biases. We conducted an online survey of genetic counselors and trainees in fall 2021. The survey assessed four types of bias (implicit/explicit prejudice and implicit/explicit stereotyping), time since last cultural competency training, time since last communication skills training, and frequency of clinic sessions with Black patients. Multiple linear regressions modeled associations between cultural competency training and different types of bias, adjusting for communication skills training, frequency of encounters with Black patients, and counselor race (White vs. non-White). Two hundred fifteen participants (107 genetic counselors and 108 trainees) responded, and 205 reported whether they had prior cultural competency training. Of these, 187 (91%) reported ever having cultural competency training, most (53%) of participants who had training had it within 6 months prior to survey completion. We found no clear pattern of associations between cultural competency training and racial biases (implicit or explicit) in adjusted analyses. Participants who had cultural competency training four or more years prior demonstrated less negative implicit stereotyping toward Black individuals compared with those having more recent training; but no statistically significant effect was found for participants who reported never having cultural competency training, compared with those having training more recently than 4 years prior. Overall, our findings do not support that cultural competency training is negatively associated with, or mitigates, Black/White racial prejudices and stereotypes against Black patients. These findings suggest more effective interventions are needed to reduce racial biases.

CDH1 variants leading to gastric cancer risk management decision-making experiences in emerging adults: 'I am not ready yet'.

Pathogenic/likely pathogenic variants (PLPV) in CDH1 are associated with a significantly increased lifetime risk for diffuse gastric cancer, with an average age of onset of 47 years. CDH1 PLPV carriers are recommended to have prophylactic total gastrectomy (PTG) or routine endoscopy surveillance. Emerging adults (EAs) may have unique circumstances that affect their medical management decision-making about PTG versus endoscopy. The study aim was to use qualitative interpretative phenomenological analysis method to understand the lived experience and medical management decision-making process for EAs carrying a CDH1 PLPV. Eligible participants were unaffected CDH1 PLPV carriers, ages 18 to 29, who had not undergone PTG and had discussed CDH1 medical management with a health provider. Semi-structured telephone interviews were transcribed verbatim and analyzed for major themes. Results show EAs wanted to avoid developing diffuse gastric cancer, but most do not feel they are ready for PTG. They had worries about PTG related to their identity exploration, financial stability, and careers. Most did not want to pass the PLPV to their children; however, the cost of preimplantation genetic testing with in vitro fertilization was a concern. Family medical history and self-understanding of endoscopy and PTG highly influenced medical management decision-making. Understanding of diffuse gastric cancer detection rate using endoscopy was inconsistent among participants. Body image was not a concern for most, but they worry about dietary restrictions after PTG. Lastly, connection to peers having the same experience was important. These findings increase our understanding of the medical management decision-making challenges for EA CDH1 carriers. EAs may take an extended time to decide what option is right for them. Thus, genetic counseling for CDH1 PLPV EA carriers requires long-term support and education.

Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force.

To help advance research critical to the achievement of the National Society of Genetic Counselors' (NSGC) strategic objectives, coordination and prioritization of society resources are needed. NSGC convened a task force to advance research necessary for the achievement of our strategic objectives by reviewing existing society-supported research efforts identifying gaps in current research, and coordinating society resources, the task force was formed in order to coordinate and prioritize society resources to advance research critical to the achievement of our strategic objectives. The task force developed a research agenda outlining high-priority research questions for the next 5 years. The questions are organized into four domains: (a) Genetic Counseling Clients; (b) Genetic Counseling Process and Outcomes; (c) Value of Genetic Counseling Services; and (d) Access to Genetic Counseling Services. This framework can be used to advocate for research and funding priorities within NSGC and with other key research entities to stimulate the growth and advancement of the genetic counseling profession.

Awareness and acceptability of population-based screening for pathogenic BRCA variants: Do race and ethnicity matter?

OBJECTIVE: To evaluate awareness and acceptability of population-based BRCA testing among an unselected population of women presenting for annual gynecologic health assessment, with secondary objective to determine if a racial disparity exists in acceptability and awareness of this screening strategy. METHODS: Women presenting for routine gynecologic care in an outpatient setting of a single academic institution were anonymously surveyed. Survey collected age, self-identified race and ethnicity, education level, personal and family history of breast and/or ovarian cancer (BOC), awareness and interest, and willingness to pay out of pocket for testing. Responses were compared with bivariate and multivariate analysis. RESULTS: Interest in testing was expressed in 150 of 301 (45.1%) of participants. Women with a family history of BOC were more likely to be interested in testing than those without (OR = 1.9 (1.0-3.6)). Interest in testing was associated willingness to pay (OR = 3.3 (1.7-6.4)). Higher education level was associated with awareness of testing (OR = 9.9 (2.0-49.7)). Interest in testing was similar between racial groups, but awareness and willingness to pay for testing were higher among White women. Multivariate analysis with adjustment for education level confirmed that Black and Hispanic women were less likely to have awareness of genetic testing compared to White women and non-Hispanic Women, respectively (OR = 0.11 (0.05-0.3); OR = 0.10 (0.01-0.8)). CONCLUSIONS: Interest in genetic testing among women in the general population is high. Despite interest, awareness of BRCA is poor among Black and Hispanic women even when adjusting for education level.

Recontacting patients for multigene panel testing in hereditary cancer: Efficacy and insights.

In hereditary cancer, multigene panel testing is currently replacing older single-gene approaches. Patients whose tests were previously uninformative could benefit from updated testing. Research suggests that patients desire to be recontacted about updated genetic testing, but few studies have tested the efficacy of recontact efforts. This study investigated the outcomes of a recontact effort in a hereditary cancer clinic and explored the impact of four different recontact letters, randomized in a 2X2 factorial design. Patients who had negative genetic testing for single genes or conditions were mailed letters inviting them to schedule an appointment to discuss updated testing. Patients were randomized to receive one of four letters and each letter emphasized different implications of updated multigene genetic testing: (a) personal medical management implications, (b) implications for family members, (c) both personal and family implications or (d) a control letter. The proportion of patients who arrived for appointments was assessed approximately 7 months after mailing along with associations with patient demographics and type of letter received. Letters were mailed to 586 patients who had initial testing between 2001 and 2015. Most patients were white (78%) and female (97%) with private insurance (65%). At 7 months, 25 patients (4.3%, 95% CI: 2.6% to 5.9%) had arrived for an appointment. Older age was significantly associated with response rate (p = .01), while type of recontact letter was not (p = .54). This study suggests that recontacting patients about updated genetic testing by mail does not yield a large response. It also suggests that personal and/or familial implications do not seem to be significant factors that determine response rate. Nevertheless, results provide meaningful information for cancer clinics about the outcomes of recontact efforts via informational letter.

The Changing Age of Individuals Seeking Presymptomatic Genetic Testing for Huntington Disease.

Huntington disease (HD) is a progressive neurodegenerative disorder. Presymptomatic genetic testing allows at-risk individuals to clarify their risk status. Understanding the characteristics and motivations of individuals seeking HD presymptomatic genetic testing better equips genetic counselors and other healthcare professionals to provide comprehensive and personalized care. The aims of this study were to (1) determine whether the average age when individuals seek presymptomatic HD genetic testing has decreased over time, (2) assess motivations for seeking testing, (3) explore whether there is a relationship between age and motivations, and (4) explore genetic counselors' perceptions of the shift in age. Data from the US HD testing centers (N = 4) were analyzed. A small but statistically significant decrease in age of individuals seeking presymptomatic testing was observed (p = 0.045). HD community members (N = 77) were surveyed regarding presymptomatic testing motivations. Younger individuals were more likely than older individuals to cite "To learn whether or not you would develop HD" and "To make choices about further education or a career" compared to older individuals (p < 0.05). Conversely, older individuals more frequently cited "To give children a better idea of their risk" (p < 0.002). Sixteen percent of genetic counselors surveyed (6/37) perceived a change in age of testing. All of these respondents had provided HD testing for ten or more years and anecdotally believed the age at testing has decreased over time. Study results help providers personalize counseling based on patient's age and serve as a starting point for more research into the relationship between age at testing and motivations for testing.

High-Risk Palliative Care Patients' Knowledge and Attitudes about Hereditary Cancer Testing and DNA Banking.

Even at the end of life, testing cancer patients for inherited susceptibility may provide life-saving information to their relatives. Prior research suggests palliative care inpatients have suboptimal understanding of genetic importance, and testing may be underutilized in this clinical setting. These conclusions are based on limited research. This study aimed to estimate genetic testing prevalence among high-risk palliative care patients in a National Cancer Institute-designated comprehensive cancer center. We also aimed to understand these patients' understanding of, and attitudes toward, hereditary cancer testing and DNA banking. Palliative care in-patients with cancer completed structured interviews, and their medical records were reviewed. Among patients at high risk for hereditary cancer, we assessed history of genetic testing/DNA banking; and related knowledge and attitudes. Among 24 high-risk patients, 14 (58.3%) said they/their relatives had genetic testing or they had been referred for a genetics consultation. Of the remaining 10 patients, seven (70%) said they would "probably" or "definitely" get tested. Patients who had not had testing were least concerned about the impact of future testing on their family relationships; two (20%) said they were "extremely concerned" about privacy related to genetic testing. Of patients without prior testing, five (50%) said they had heard or read "a fair amount" about genetic testing. No high-risk patients had banked DNA. Overall, 23 (95.8%) said they had heard or read "almost nothing" or "relatively little" about DNA banking. Written materials and clinician discussion were most preferred ways to learn about genetic testing and DNA banking. Overall, this study demonstrates underutilization of genetics services at the end of life continues to be problematic, despite high patient interest.

Cancer Genetic Counseling and Testing in an Era of Rapid Change.

The impacts of the Association for Molecular Pathology vs. Myriad Supreme Court decision regarding patenting DNA segments and multi-gene testing on cancer genetic counseling practice have not been well described. We aimed to assess genetic counselors' perceptions of how their genetic testing-related practices for hereditary breast and/or ovarian cancer (HBOC) changed after these events. One-hundred fifty-two genetic counselors from the National Society of Genetic Counselors Cancer Special Interest Group completed an anonymous, online, mixed-methods survey in November 2013. The survey presented four hypothetical patients and asked about changes in testing practice. Across the vignettes, a majority of participants reported specific changes in testing decisions following Association for Molecular Pathology vs. Myriad and availability of multi-gene testing. Ninety-three percent of participants reported changing the types of first- and second-line tests they order for HBOC; the degree of change varied geographically. Qualitative analysis indicated that some counselors have altered the counseling session content, trading depth of information for breadth and spending more time counseling about uncertainty. This study shows that cancer genetic counselors are adapting quickly to genetic testing changes, but with wide variability. Findings suggest future research to elucidate clinicians' and patients' preferences for guidance on the clinical implementation of next-generation sequencing.

Lifestyle Risk Factors Among People Who Have Had Cancer Genetic Testing.

Hereditary cancer genetic counseling often focuses on medically intensive risk-reduction strategies, like imaging and risk-reducing surgeries. Lifestyle factors also influence cancer risk, but health behavior counseling is not common in genetic counseling. Information about typical lifestyle risk factors among patients seeking hereditary cancer risk is sparse. The current study describes cancer risk-relevant lifestyle factors for people who have had cancer genetic testing. Data came from the Health Information National Trends Survey (HINTS 4) collected in 2013. Analytic variables represented American Cancer Society nutrition and physical activity guidelines. Lifestyle factors were assessed for people who had undergone testing for BRCA1, BRCA2, or Lynch Syndrome genes. Among 3016 HINTS respondents, 135 had cancer genetic testing. Of these, 58 % were overweight or obese. Eighteen percent reported no moderate-intensity physical activity. Average sedentary screen-time was 3.4 h (SE = 0.472) daily. Sixty-three percent drank non-diet soda, and 23 % of these people drank soda every day. Between 18 and 36 % consumed less than 2 ½ cups fruits/vegetables daily. Twenty-four percent were current smokers. Lifestyle risk factors were not different between people who had genetic testing and those who had not. In conclusion, most people who had genetic testing for cancer susceptibility have at least one modifiable risk factor. Genetic counselors have opportunities to impact a counselee's cancer risk not only through risk-tailored medical procedures, but also through lifestyle modification recommendations. Results of the current study may foster a broader discussion of genetic counselors' roles in healthy lifestyle education.

Family Ties: The Role of Family Context in Family Health History Communication About Cancer.

Family health history about cancer is an important prevention and health promotion tool. Yet few studies have identified family context factors that promote such discussions. We explored relations among family context (cohesion, flexibility, and openness), self-efficacy, and cancer communication (gathering family history, sharing cancer risk information, and frequency) in a diverse group of women enrolled in a randomized control trial. Baseline survey data for 472 women were analyzed. The women's average age was 34 years, 59% identified as Black, 31% had graduated high school, and 75% reported a family history of any cancer. Results showed that greater family cohesion and flexibility were related to higher communication frequency and sharing cancer information. Women who reported greater self-efficacy were more likely to have gathered family history, shared cancer risk information, and communicated more frequently with relatives. Openness was not associated with communication but was related to greater family cohesion and flexibility. Adjusting for demographic variables, self-efficacy, and family cohesion significantly predicted communication frequency. Women with higher self-efficacy were also more likely to have gathered family health history about cancer and shared cancer risk information. Future research may benefit from considering family organization and self-efficacy when developing psychosocial theories that in turn inform cancer prevention interventions.

What women think: cancer causal attributions in a diverse sample of women.

Women hold diverse beliefs about cancer etiology, potentially affecting their use of cancer preventive behaviors. Research has primarily focused on cancer causal attributions survivors and participants from non-diverse backgrounds hold. Less is known about attributions held by women with and without a family history of cancer from a diverse community sample. Participants reported factors they believed cause cancer. Open-ended responses were coded and relations between the top causal attributions and key factors were explored. Findings suggest certain socio-cultural factors play a role in the causal attributions women make about cancer, which can, in turn, inform cancer awareness and prevention messages.

Reaching Hard to Reach Populations with Hard to Communicate Messages: Efficacy of a Breast Health Research Champion Training Program.

A Breast Health Research Champion training program was a developed targeting self-identified community breast health advocates from a predominant African-American community with a significant breast cancer mortality disparity. Twelve individuals completed the program that provided training in breast cancer risk and screening, breast cancer research, biospecimen in cancer research, and human research subject protection. The training emphasized four key messages to be disseminated to the community. Trainees hosted a minimum of two social chats with individuals from their social networks and functioned as community researchers, acquiring consent and gathering follow-up data from attendees. Trainees reached 199 individuals from their social networks, and chats were diverse in the venue selected, mode of message transmission, and the audience reached. Post/pre questionnaire data from attendees at the chats showed significant improvement in knowledge, attitudes, and intended behaviors as it relates to breast cancer screening, clinical research, and biospecimen in research. Forty percent of attendees provided 4-week follow-up information. Of respondents eligible for mammography, 38 % had taken action to be screened, and 86 % of respondents had spoken about the information to someone else in their social network. Trainees expressed feelings of empowerment after completing the project, "feeling like the expert," and all trainees were surprised at the enthusiastic response from attendees of their chats. Trainees continued to disseminate the information learned from the training program during the 6 months following the training, reaching an additional 786 individuals in the community.

Genetic counselors' current use of personal health records-based family histories in genetic clinics and considerations for their future adoption.

Given the widespread adoption of electronic medical records and recent emergence of electronic family history tools, we examined genetic counselors' perspectives on the emerging technology of the personal health record (PHR)-based family history tool that links to an electronic medical record (EMR). Two-hundred thirty-three genetic counselors responded to an on-line survey eliciting current use of electronic family history (EFH) tools and familiarity with PHR-based family history tools. Additionally, after being shown a series of screen shots of a newly developed PHR-based family history tool based on the U.S. Surgeon General's My Family Health Portrait (United States Department of Health and Human Services 2009), participants were surveyed about the perceived usefulness, ease of use, and impact on current workflow that this kind of tool would have in their practices. Eighty-three percent reported that their institution has an EMR, yet only 35 % have a dedicated space for family history. Eighty-two percent reported that less than 5 % of their patients have a PHR, and only 16 % have worked with patients who have a PHR. Seventy-two percent or more agreed that a PHR-based family history tool would facilitate communication, increase accuracy of information, ensure consistency in recording information, increase focus on actual counseling, reduce repetitive questions, improve efficiency, and increase the legibility and clarity. Our findings suggest that participants were familiar with existing EFH tools, but that the majority did not use them in practice. Genetic counselors' adoption of such tools is limited due to non-existence of this kind of technology or inability to integrate it into their clinics. They are also strongly in favor of adopting a PHR-based family history tool in genetics clinics, but have practical concerns that must be addressed before the tool can be implemented.

Addressing disparities in the uptake of genetic counseling and testing in African American women; rationale, design and methods.

BACKGROUND: Genetic counseling and testing (GCT) informs risk reduction and management strategies in women at risk for carrying a pathogenic variation in the BRCA1 or BRCA2 (BRCA1/2) genes. African American (hereinafter referred to as Black) women are less likely to receive GCT services for hereditary breast and ovarian cancer (HBOC). The objective of this work was to examine existing literature regarding successful culturally tailored GCT interventions for Black women and to describe the rationale and protocol for a randomized feasibility trial to test the efficacy of a culturally tailored GCT intervention. METHODS/DESIGN: The For Our Health (FOH) study is a two-arm randomized control trial designed to test the efficacy of a video intervention to promote the uptake of GCT among Black women with a high risk of HBOC. The culturally tailored video intervention targets key beliefs, knowledge gaps, misconceptions, and key anticipated emotions relevant for GCT. After completing the baseline survey, 50 women at risk of HBOC will be randomized (1:1) to one of two trial arms: a YouTube video intervention or a publicly available fact sheet. Final assessments will immediately follow receipt of either video or fact sheet. CONCLUSION: Few studies have tested interventions to improve GCT uptake among Black women. The FOH trial will fill an important scientific gap in knowledge regarding strategies to reduce disparities in GCT among Black women at risk of HBOC.

Genetic risk, perceived risk, and cancer worry in daughters of breast cancer patients.

This study explored relationships between worry, perceived risk for breast cancer, consulting a genetic counselor, having genetic testing, and genetic risk for women whose mothers had breast cancer. Analyses involved data from a community-based phone survey of women whose mothers had breast cancer. Participants were categorized as having low, intermediate, or high genetic risk based on their reported family history, in accordance with an accepted classification scheme. The Lerman Breast Cancer Worry Scale measured worry, and participants reported their perceived lifetime likelihood of breast cancer, risk compared to others, and chance from 1 to 100. ANOVA, chi-square, and multiple regression analyses were conducted as appropriate. One hundred-fifty women participated. Mean age was 38 years, and 81% were Caucasian. Fifty-two women had low, 74 had intermediate, and 24 had high genetic risk for breast cancer. There were no significant differences in worry or perceived risk by hereditary risk category. Most high-risk women (91%) had not spoken with a genetic counselor, and no one had previous genetic testing. These findings suggest perceived risk, worry about breast cancer, and use of expert consultation do not match the genetic contribution to risk. There is a need for effectively stratifying and communicating risk in the community and providing tailored reassurance or referral for high-risk assessment.

Exploring hereditary cancer among dying cancer patients--a cross-sectional study of hereditary risk and perceived awareness of DNA testing and banking.

Hereditary cancer assessment at the end of life is a relatively unexplored area, but it could be critical for surviving family members. This study explored the prevalence of hereditary cancer among dying cancer patients and assessed patients' perceived awareness of DNA testing and/or banking in a public access hospital. Palliative care patients with cancer from a single institution (or their medical-decision-making surrogates for patients unable to answer for themselves) completed structured interviews. Information was collected through medical records review and structured interviews for 43 dying cancer patients. Information for 9 patients was collected from surrogates. Nine patients (21%, 95% CI = 8.8% to 33.1%) had strong genetic risk. Currently available genetic tests could have addressed this risk for several patients. None had previous genetic counseling, testing or DNA banking. Among strong-risk patients, about half of patients/surrogates had heard/read "almost nothing" about genetic testing (44%) and DNA banking (67%). Perceived genetic awareness was not associated with genetic risk, and neither were sociodemographic characteristics. The proportion of hereditary cancer may be at least as high in the palliative care population as in other clinical settings, but awareness and uptake among patients are low. These conditions are not being recognized upstream and families are losing valuable information.

Universal Mismatch Repair Protein Screening in Upper Tract Urothelial Carcinoma.

OBJECTIVES: Universal screening of upper tract urothelial carcinoma (UTUC) for Lynch syndrome by mismatch repair (MMR) protein immunohistochemistry (IHC) has been recommended by some investigators. Herein, we assess this recommendation retrospectively by simulating its performance on a retrospective, unselected cohort of UTUCs, with comparison to the established setting of colorectal and endometrial adenocarcinoma. METHODS: We assessed for complete loss of MMR protein (MLH1, MSH2, MSH6, and PMS2) IHC in 74 consecutive cases of UTUC and then tabulated clinical and pathologic factors. MMR findings from same-institution colorectal and endometrial adenocarcinomas were tabulated for comparison. RESULTS: We observed loss of at least one MMR protein in 12% in our UTUC cohort (three MSH2/MSH6, three MSH6 only, one MLH1/PMS2, and two PMS2 only). Of these nine cases (seven males, two females, median age 67 years, five associated with colorectal adenocarcinoma), at least three (4% of the overall cohort) proved to be Lynch syndrome. Overall, MMR loss in UTUC was comparable to colorectal (11%; 50 of 471 cases) and endometrial (12%; 12 of 101 cases) adenocarcinomas. CONCLUSIONS: The rate of MMR loss observed in UTUC was comparable to that in the established setting of colorectal and endometrial adenocarcinomas, supporting universal UTUC screening at our institution and others.

Reducing Disparities in Receipt of Genetic Counseling for Underserved Women at Risk of Hereditary Breast and Ovarian Cancer.

Purpose: Genetic counseling (GC) provides critical risk prediction information to women at-risk of carrying a genetic alternation; yet racial/ethnic and socioeconomic disparities persist with regard to GC uptake. This study examined patterns of GC uptake after a referral in a racially diverse population. Materials and Methods: In an urban academic medical center, medical records were reviewed between January 2016 and December 2017 for women who were referred to a genetic counselor for hereditary breast and ovarian cancer. Study outcomes were making an appointment (yes/no) and keeping an appointment. We assessed sociodemographic factors and clinical factors. Associations between factors and the outcomes were analyzed using chi square, and logistic regression was used for multivariable analysis. Results: A total of 510 women were referred to GC and most made appointments. More than half were white (55.3%) and employed (53.1%). No significant associations were observed between sociodemographic factors and making an appointment. A total of 425 women made an appointment and 268 kept their appointment. Insurance status (p = 0.003), marital status (p = 0.000), and work status (p = 0.039) were associated with receiving GC. In the logistic model, being married (odds ratio [OR] 2.119 [95% confidence interval, CI 1.341-3.347] p = 0.001) and having insurance (OR 2.203 [95% CI 1.208-4.016] p = 0.021) increased the likelihood of receiving counseling. Conclusions: Racial disparities in GC uptake were not observed in this sample. Unmarried women may need additional support to obtain GC. Financial assistance or other options need to be discussed during navigation as a way to lessen the disparity between women with insurance and those without.