Improving access to exome sequencing in a medically underserved population through the Texome Project.

PURPOSE: Genomic medicine can end diagnostic odysseys for patients with complex phenotypes; however, limitations in insurance coverage and other systemic barriers preclude individuals from accessing comprehensive genetics evaluation and testing. METHODS: The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project. RESULTS: We highlight the Texome Project process and describe the outcomes of the first 60 ES results for study participants. Participants received a genetic evaluation, ES, and return of results at no cost. We summarize the psychosocial or medical implications of these genetic diagnoses. Thus far, ES provided molecular diagnoses for 18 out of 60 (30%) of Texome participants. Plus, in 11 out of 60 (18%) participants, a partial or probable diagnosis was identified. Overall, 5 participants had a change in medical management. CONCLUSION: To date, the Texome Project has recruited a racially, ethnically, and socioeconomically diverse cohort. The diagnostic rate and medical impact in this cohort support the need for expanded access to genetic testing and services. The Texome Project will continue reducing barriers to genomic care throughout the future study years.

Perceived impact of ethnocultural competency training on genetic counselors' clinical interactions.

For genetic counselors to effectively meet the needs of an ever-diversifying multicultural patient population, it is vital that their genetic counseling programs (GCPs) equip future genetic counselors to recognize the impact of a patient's ethnocultural background on clinical interactions (Towards a culturally competent system of care: A monograph on effective services for minority children who are severely emotionally disturbed (p. 28). CASSP Technical Assistance Center, Georgetown University Child Development Center, 1989). Concerns about genetic counseling cultural competency training (CCT) including content and delivery have been brought up by GCP students who identify as racial and ethnic minorities (Journal of Genetic Counseling, 29, 303-314). Though GCPs must meet the Accreditation Council of Genetic Counselors' (ACGC) accreditation criteria, there is a gap in knowledge regarding the focus, type, and methods of delivery that GCPs have chosen to incorporate into their CCT, as ACGC does not dictate the exact focus, delivery, or format of training curricula. This quantitative study aimed to (1) characterize the current focus, type, and delivery of ethnocultural competency training in GCPs as perceived by second-year genetic counseling students and recent graduates and (2) highlight their perception of its impact on their levels of preparedness and comfort when interacting with ethnoculturally diverse patients. One hundred and one survey responses were analyzed using descriptive statistics, chi-square analyses, two-sample Wilcoxon rank-sum, and Fisher's exact tests. The results reveal significant variability in the format, type, and delivery of CCT provided by GCPs. Participants perceive that CCT focusing on specific traditions, medical considerations, and systemic healthcare disparities (taught to 74%, 61%, and 94% of students, respectively) related to ethnoculturally diverse patients was more likely to increase their self-reported levels of preparedness and comfort for clinical interactions than training focused on racial or ethnic stereotypes and generalizations (taught to 88% of students). Although 94% of participants perceived their CCT as helpful, 61% reported they received an insufficient amount. In light of these results, we provide suggestions for the improvement of ethnocultural CCT and highlight future opportunities for more intentional and fruitful CCT in GCPs.

Views of medical residents on a research training program: A qualitative study.

INTRODUCTION: The American University of Beirut Medical Center (AUBMC) developed the Fellowship and Residency Research Program (FRRP) to provide residents and clinical fellows with a supervised and structured research experience. The objective of this study was to explore the views of FRRP participants about the training program and how to enhance it. METHODS: In 2018, we conducted a qualitative study targeting residents where we invited potential participants through email and via snowball sampling. We continued the data collection until we reached data saturation with 21 participants (N = 21) and used thematic analysis to identify emerging themes. RESULTS: Thematic analysis generated four emerging themes: one related to the expectations of residents, while the remaining three themes related to how the program is working to meet those expectations, specifically: coordination, mentorship, and capacity building. For these three latter themes, we discussed the strengths and challenges related to each. In terms of coordination, few residents complained that the deadlines to submit deliverables are not evenly distributed across the years. In terms of mentorship, participants appreciated the flexibility in choosing the mentor. In terms of capacity building activities, participants found the lecture series, both real time and virtual, to be helpful. Finally, participants pointed out that the FRRP program should be mandatory. DISCUSSION: To provide residents and clinical fellows with a supervised and structured research experience, we have built on our findings to introduce several changes to our program such as ensuring the availability and commitment of faculty mentors, and providing capacity building activities to the program participants.

Perception, attitude, practice and barriers towards medical research among undergraduate students.

BACKGROUND: Early exposure to medical research, specifically at the undergraduate level, contributes in building a solid medical education for students. In 2014, the Medical Research Volunteer Program (MRVP) was established at the American University of Beirut (AUB). This program provides undergraduate students with the opportunity to be involved in ongoing medical research projects, on a voluntary basis. Little is known about undergraduates' outlook on medical research and the challenges they face. The aim of this study was to assess, among AUB undergraduate students, the perception, attitude, practice and barriers towards medical research, as well as to identify factors affecting them, such as background characteristics and research involvement. METHODS: A cross sectional study was carried out at AUB, where undergraduate students enrolled in specific chosen classes were surveyed in spring 2019 via paper based questionnaires. Close-ended questions assessed students' attitude, perception, practice and barriers towards medical research using a 5-point likert scale. Moreover, demographic characteristics and research involvement information were collected. RESULTS: Five hundred and twenty three students were surveyed. About half of the students were premedical students (51.5%), and only 43.6% of them were aware of the medical research program at their university. The average attitude, perception, practice and barriers scores were found to be 3.58, 4.35, 3.58 and 2.60, respectively (on a scale from 1 to 5). Students found the lack of mentoring and guidance to be the main barrier in conducting medical research. CONCLUSION: Our findings reveal that students express interest towards medical research and recognize its importance. A medical research program at the undergraduate level is indispensable in guiding students in their future career endeavors. Therefore, research programs should be constantly monitored to assure a research-oriented environment within institutions.