Familial hypercholesterolemia (FH) is severely underdiagnosed in the USA; yet, factors influencing family notification about risk for FH in the US pediatric setting have not been well elucidated. Most previous research on these factors has occurred in adult patient populations in European countries with organized cascade screening programs; therefore, we sought to characterize parent experiences with cascade screening in the US pediatric setting. A quantitative survey measuring family notification of FH risk information was administered to 38 parents of children with FH identified within a pediatric cardiology clinic. Participants were also asked if family notification was impacted by intrapersonal, interpersonal, institutional, community, and public policy factors identified previously in other populations. Notification of at least one of the proband's living grandparents or aunts/uncles was reported by 76% (n = 25/33) and 71% (n = 24/34) of participants, respectively. The most common reason for notification was to protect relatives from heart disease. Two of the most common reasons participants did not notify relatives were a lack of information about FH and concern that the relative would have difficulty understanding the information. Yet, only a minority of participants (39%) accessed institutional resources such as educational materials to share with relatives or assistance drafting a family letter that could address these barriers. Based on the identified barriers and motivators for family communication, we suggest facilitators to improve implementation of cascade screening.

Genetic counseling is a female-dominated profession, with 96% of counselors self-identifying as female. Research suggests gender diversification benefits healthcare professionals and the populations they serve. Therefore, this study explored how men choose a genetic counseling career, associations between career satisfaction and their career entry dynamics and experience levels, and differences due to experience level in how they decide on this profession. Twenty-five novice, experienced, or seasoned male counselors and 8 male genetic counseling students participated in semi-structured phone interviews. Interpretive content and cross-case analyses of interview data were informed by Simpson's "Seekers, Finders, and Settlers" theory describing career entry dynamics of men in non-traditional (i.e., female-dominated) fields. Results revealed 13 interviewees were Seekers, who initially knew they wanted a career in genetic counseling, actively chose the profession, and were satisfied with their decision. Eleven were Settlers, who had tried different, traditional jobs, with limited satisfaction before actively finding and choosing genetic counseling. Two were Finders, who discovered genetic counseling while in the career decision making process and made a passive choice to pursue it as they had no feasible, satisfactory alternative. Seven men fit a new category, we termed "Stumblers," who were in another career and satisfied, but changed to genetic counseling after happening to hear about it. Prevalent themes pertaining to participants' experiences in the career include desire for a multidisciplinary career; lack of a priori knowledge of genetic counselor roles; late exposure to the profession; and varied perceptions of being in a non-traditional career. There were few differences due to experience level and career satisfaction was high across the sample. Results suggest earlier exposure to the career and availability of detailed descriptions of its multidisciplinary nature may increase the number of males in the profession.

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