Galen Joseph

Although psychosocial support and assessment is a required competency of genetic counselors (GCs), how the psychosocial assessment is actualized in sessions is not well studied. We aimed to describe the landscape of psychosocial assessments in clinical genetic counseling sessions at a single institution through direct analysis of audio recordings. Clinical GCs at Stanford Medicine and their new English‐speaking adult patients were eligible. After GCs and patients completed demographic surveys, we audio‐recorded sessions for which the GCs and patients enrolled. Purposive sampling, prioritizing a breadth of GCs, specialties, indications, and patient demographics, was used to select audio recordings for transcription and analysis. We used a blended inductive and deductive approach to develop the codebook. Code frequency and memos were assessed for descriptive content analysis of psychosocial components of the sessions. We analyzed 23 audio recordings, representing nine GCs across cancer, cardiology, and prenatal. We identified three distinct psychosocial styles that GCs used: “Direct,” “Informational,” “Casual.” While all styles incorporated emotion‐focused conversation to some degree, only the “Direct Psychosocial Style” included an explicit psychosocial assessment of patients. Psychosocial assessments consisted of direct feelings questions, emotion‐focused responses, and advanced empathy. The “Informational Psychosocial Style” was characterized by GC responses to patient feelings and sympathy statements, without consistent exploration of patient feelings throughout the session. The “Casual Psychosocial Style” was characterized by an observable rapport between the GC and patient that carried throughout the session, allowing for psychosocial issues to be explored organically. GCs varied in their use of each style across patients, specialty, and indication. In conclusion, we observed three distinct psychosocial styles, of which only the Direct Psychosocial Style had an overt psychosocial assessment. Further research is needed to examine patient outcomes within each style.

Technology provides opportunities to enhance communication skills training for genetic counseling graduate students. We assessed the acceptability of an online communication training program. Graduate student volunteers completed five online training modules on basic communication skills with opportunities to practice the skills within three simulated/standardized patient (SP) sessions. Participants completed online questionnaires reporting on acceptability, perceived usefulness, and realism of the modules and SP sessions. They also reported on the ease of transferring skills from the modules to clinical practice. Out of the 60 students who completed the baseline session, 35 (58%) completed all five training modules. Out of these 35 students, most found the modules to be useful (94%) and agreed that they were relevant to clinical practice (97%). At least 88% of participants found the genetic counselors, patient, and case scenarios to be realistic. Twenty‐eight students had participated in clinical rotations since completing the intervention. Of these, 17 (61%) reported that it was at least slightly easy to use the skills in actual clinical cases. Most students also reported being able to transfer the skills they had learned into clinical practice. While the training was well‐received, the relatively low completion rate of 58% raises concern that the intervention may need formal integration into the program curriculum to succeed due to the time and effort demands on students.

Polygenic risk scores (PRS) have the potential to improve the accuracy of clinical risk assessments, yet questions about their clinical validity and readiness for clinical implementation persist. Understanding how individuals integrate and act on the information provided by PRS is critical for their effective integration into routine clinical care, yet few studies have examined how individuals respond to the receipt of polygenic risk information. We conducted an embedded Ethical, Legal, and Social Implications (ELSI) study to examine if and how unaffected participants in a US population breast cancer screening trial understood and utilized PRS, as part of a multifactorial risk score combining traditional risk factors with a genetic risk assessment, to make screening and risk-reduction decisions. Semi-structured qualitative interviews were conducted with 24 trial participants who were designated at elevated risk for breast cancer due to their combined risk score. Interviews were analyzed using a grounded theory approach. Participants understood PRS conceptually and accepted it as one of many risk factors to consider, yet the value and meaning they ascribed to this risk estimate varied. Most participants reported financial and insurance barriers to enhanced screening with MRI and were not interested in taking risk-reducing medications. These findings contribute to our understanding of how PRS may be best translated from research to clinical care. Furthermore, they illuminate ethical concerns about identifying risk and making recommendations based on polygenic risk in a population screening context where many may have trouble accessing appropriate care.

The objective of this study was to identify interpretation challenges specific to exome sequencing and errors of potential clinical significance in the context of genetic counseling for adults at risk for a hereditary cancer syndrome. Thirty transcripts of interpreter‐mediated telephone results disclosure genetic counseling appointments were coded for errors by bilingual researchers, and the coders applied an overall rating to denote the degree to which the errors interfered with communication overall. Genetic counselors reviewed a subset of errors flagged for potential clinical significance to identify those likely to have clinical impact. Qualitative interviews with 19 interpreters were analyzed to elucidate the challenges they face in interpreting for genetic counseling appointments. Our analysis identified common interpretation errors such as raising the register, omissions, and additions. Further, we found errors specific to genetic counseling concepts and content that appeared to impact the ability of the genetic counselor to accurately assess risk. These errors also may have impacted the patient's ability to understand their results, access appropriate follow‐up care, and communicate with family members. Among interpreters' strengths was the use of requests for clarification; in fact, even more use of clarification would have been beneficial in these encounters. Qualitative interviews surfaced challenges stemming from the structure of interpreter work, such as switching from medical and nonmedical interpretations without substantial breaks. Importantly, while errors were frequent, most did not impede communication overall, and most were not likely to impact clinical care. Nevertheless, potentially clinically impactful errors in communication of genetics concepts may contribute to inequitable care for limited English proficient patients and suggest that additional training in genetics and specialization in healthcare may be warranted. In addition, training for genetic counselors and guidance for patients in working effectively with interpreters could enhance interpreters' transmission of complex genetic concepts.

E18565 Background: Diagnosis of hereditary cancers by genetic testing (GT) has significant implications for treatment decisions for individuals and risk reduction among family members. Recent guidelines have expanded the eligibility criteria for GT. However, significant disparities in GT completion persist based on race, ethnicity, insurance status, and English proficiency. Thus, novel interventions are needed to provide diverse populations equitable access to GT. Methods: From March to October 2021, we conducted a single arm study of a genetic testing station (GTS) intervention in a safety net hospital. The GTS intervention included (1) screening of clinic schedules for eligible patients; (2) video-based GT education in English, Spanish, and Cantonese; (3) consent for GT and collection of a blood or saliva sample by a genetic counseling assistant; (4) telehealth-based post-test counseling with a genetic counselor (GC). Bilingual, culturally concordant staff developed the educational videos and study materials. Patients who met the NCCN criteria for GT were eligible. We compared this group to a historical cohort who initiated GT in the preceding nine months. The historical cohort underwent GT in a traditional model: (1) oncologist-initiated referral, (2) pretest counseling with a GC, (3) GT if appropriate, and (4) post-test counseling to review and discuss results. Our primary outcomes were accessibility and feasibility assessed by tracking the implementation process. Secondary outcomes included completion rates of GT and post-test GC visit, and time from enrollment to GT result disclosure. We evaluated all associations with Chi-square tests for categorical variables and Pearson’s Chi-square test of medians for time to post-test visit. Results: We approached 92 patients for GTS; 3 declined, 89 patients underwent the GTS intervention. Of 155 patients (GTS: n = 89, historical cohort: n = 66), 15% were Black, 28% Asian, 17% White, 31% Hispanic/Latinx, 2% Native Hawaiian/Pacific Islander, and 7% multiethnic/other; 51% spoke English, 27% Spanish, 17% Cantonese, and 5% other. In the GTS cohort, 85 (96%) of participants completed GT and 80 (90%) completed the post-test GC visit, compared to 46 (70%, p < 0.001) and 42 (64%, p < 0.001) respectively in the historical cohort. The median time to result disclosure was 30.5 days (IQR 23.8 - 38.8) for the GTS cohort and 80.5 days (IQR 37.5 - 137.5, p = 0.001) for the historical cohort. Conclusions: Implementation of GTS was feasible and acceptable in a safety net setting. GTS resulted in more patients completing GT and post-test counseling and significantly reduced the time to result disclosure, which has the potential to impact treatment decisions and outcomes. As GT eligibility criteria broaden, innovative interventions, workflows, and tailored educational resources for diverse populations are needed to ensure equitable access to GT.

Aim: As genomic medicine reaches more diverse populations, there is an increased need for healthcare interpreters who understand and can effectively interpret genomics concepts. Methods: We designe...

Purpose: Genetic counseling (GC) and testing for hereditary breast/ovarian cancer (HBOC) is concentrated in elite medical centers and not offered in most public hospitals despite comparable risk across income levels. GC may be extended remotely by phone or video to patients in low resource settings, but the benefits and harms of these modes for these patients are unknown. Methods: We conducted a multicenter partially randomized preference noninferiority trial in 3 public hospitals to compare the effectiveness of 3 GC modes (in-person, phone, video) among 679 diverse patients at high-risk for HBOC. To answer some of our most important questions (e.g. How engaged are patients with counselors and how does that affect outcomes? What about the GC affects key message recall? How do patients' life/health contexts affect GC impact? How do these dynamics differ by GC mode?), we compiled 23 case studies (CS) for a multifaceted understanding of patient context, intended to reveal influences that may be subtle, complex, and not accessible from individual self-report. The main trial outcome was presented at AACR 2020; here we report the case studies methods and findings. CS participants had consented to audio-recording their GC sessions; agreed to be contacted for further research during the final trial survey; and had been offered genetic testing but did not have results at the time of the in-depth CS interview. An iterative analytic process integrated and summarized qualitative and quantitative data from surveys, interviews, genetic counselor reflections and audio recordings for each case including: patient demographics, health literacy rating, GC mode; GC session duration, key points, and engagement; genetic counselor reflections; interview highlights; general conclusions about that case; conclusions based on mode; patient quotes; and an integrated conclusion from all the data elements. Results: Our randomized trial produced equivalent outcomes across 3 GC modes. But our case studies revealed critical differences including higher quality engagement and trust-building via in-person and video counseling compared with phone, where distractions and brevity were common. While more patients opted for the convenience of phone, and for many it was their only option due to work and other demands, those counseled by phone were least likely to complete genetic testing when it was offered. Patients in all modes struggled with information recall. Conclusions: GC by phone is an important source of access for low-income patients but research should strive for higher quality. GC by video holds promise but availability is a concern. For both remote modes, easy access to testing is required. Strategies to improve information recall are needed in all modes. Research using quantitative cognitive ascertainment should include mixed methods for a more multifaceted in-depth exploration that yields rich real-world insights. Citation Format: Rena J. Pasick, Claudia Guerra, Selina R. Flores, Galen Joseph. Blending research paradigms and methods to compare 3 modes of cancer genetic counseling with diverse public hospital patients: Insights from case studies [abstract]. In: Proceedings of the AACR Virtual Conference: 14th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2021 Oct 6-8. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2022;31(1 Suppl):Abstract nr PO-051.