Risk Communication in Families of Children with Familial Hypercholesterolemia: Identifying Motivators and Barriers to Cascade Screening to Improve Diagnosis at a Single Medical Center

Abstract

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.

Perspectives from individuals with familial hypercholesterolemia on direct contact in cascade screening

“…A similar theme was found in a study by Wurtmann, Steinberger, McCarthy Veach, Khan, and Zierhut (2018) where parents of children with FH were interviewed. Though many participants in that study preferred indirect methods for cascade screening, the minority who did not notify family members of a risk for FH cited a lack of knowledge and understanding of FH and felt that family members may have difficulty with understanding disease risks as well (Wurtmann et al, 2018). Though these barriers, both cited and hypothetical, may be relevant for a small subset of participants, they present an opportunity for utilization of a direct contact approach to initiate cascade screening.…”

“…Those same individuals had doubts that family members would be concerned about genetic risk and therefore dismiss advice from a relative. A similar theme was found in a study by Wurtmann, Steinberger, McCarthy Veach, Khan, and Zierhut (2018) where parents of children with FH were interviewed. Though many participants in that study preferred indirect methods for cascade screening, the minority who did not notify family members of a risk for FH cited a lack of knowledge and understanding of FH and felt that family members may have difficulty with understanding disease risks as well (Wurtmann et al, 2018).…”

Outcomes from a pilot genetic counseling intervention using motivational interviewing and the extended parallel process model to increase cascade cholesterol screening

“…Cascade screening is essential for early diagnosis and treatment of individuals with FH, but barriers prevent patients from notifying their relatives about the condition (Leren, 2004; Wurtmann et al., 2019). This pilot study examined a novel genetic counseling intervention to overcome these barriers and increase cascade screening behaviors in parents of children with FH.…”

“…Although overall communication and screening rates as a result of our study are higher than what has been previously observed in adult populations, we noted that only 46% ( n = 6) of participants reported contacting and/or screening additional relatives following the intervention. Previous research on FH has indicated there are many barriers to completing cascade screening (van den Nieuwenhoff et al., 2007; Wurtmann et al., 2019). Though our intervention addressed some of the barriers identified in these previous qualitative studies (i.e., self‐efficacy, risk knowledge, risk denial), its design did not accommodate barriers such as lack of contact with or estrangement from family.…”

“…Reasons for this communication pattern include fear of being perceived as ‘interfering in other people's matters’ or seeming ‘pushy’, or due to a perception that the disclosure is not an urgent matter (van den Nieuwenhoff et al., 2007, p. 1032). Specific to pediatric cases of FH, two of the most commonly referenced barriers include a lack of information about FH and concern that the relative would have difficulty understanding the information (Wurtmann et al., 2019). However, despite an acknowledgment that lack of knowledge is a factor preventing communication, a majority of participants did not access resources such as educational materials to address this barrier.…”