Leadership development in genetic counseling graduate programs.

Leadership is emerging as an important component of health professional training. This study aimed to characterize current leadership development in accredited genetic counseling programs. Semi-structured interviews with program leadership were conducted to explore their program's leadership curricula and their perspectives on the meaning of leadership and its place in genetic counseling training. Eleven interviews were conducted and focused on seven categories related to study goals. Using the Framework Method, themes were generated within the predefined categories. Categories and themes included Defining Leadership (Positional vs Non-positional, Beliefs about Leadership, Role of Leadership in the Field of Genetic Counseling), Leadership Curricula Origin and Delivery (Course-based and Longitudinal, Explicit vs. Implicit, Origin of Material), Role of Faculty and Students (Role of Faculty, Expectations for Students and Qualities of Students), Skills, Evaluation, Priority (Potential for Improvement, Barriers and Facilitators), and Standards (Current Incorporation, Potential Incorporation). All programs had some form of leadership development, but many participants lacked a personal or program definition of leadership. Leadership development varied in curricula and delivery, but most were longitudinal and faculty-driven, with communication, teaching, advocacy, and collaboration as commonly taught skills. However, leadership development opportunities were rarely labeled as such, and participants identified labeling current leadership development as the top area for improvement. Labeling leadership development could improve assessment of current efforts and the ability to address gaps in leadership curricula. This would lay the foundation for necessary intentional leadership development, in turn helping us better advocate for our patients and the profession.

A scoping review of interventions increasing screening and diagnosis of familial hypercholesterolemia.

PURPOSE: Familial hypercholesterolemia (FH) is one of the most common genetic conditions, with a prevalence of approximately 1 in 250 individuals. If left untreated, FH greatly increases risk for cardiovascular disease and premature death. Currently, FH is largely underdiagnosed and interventions are needed to increase identification. The purpose of this study was to identify effective interventions aimed at increasing FH diagnosis. METHODS: A scoping review of the literature addressing interventions to increase FH detection was conducted. Included studies detailed interventions that increased screening and detection of FH globally. Studies were characterized by intervention type and analyzed for themes using the Consolidated Framework for Implementation Research. RESULTS: A total of 46 studies across 32 countries were included in the review. All studies were effective in increasing FH detection. In total, 12 different intervention types were extracted with the most used being cascade and electronic medical record screening-based interventions. CONCLUSION: Given the diversity of effective interventions identified in this review, future efforts could explore approaches that maximize identification through a combination of interventions. Our results support one such strategy that uses electronic medical records to screen for index cases and a 2-step indirect and direct contact method of index cases' relatives.