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Motivating at-risk relatives to undergo cascade testing for familial hypercholesterolemia (FH) is critical for diagnosis and lifesaving treatment. As credible sources of information, clinicians can assist in family communication about FH and motivate cascade testing uptake. However, there are no guidelines regarding how clinicians should effectively communicate with probands (the first person diagnosed in the family) and at-risk relatives. Individuals and families with FH can inform our understanding of the most effective communications to promote cascade testing. Guided by the extended parallel process model (EPPM), we analyzed the perspectives of individuals and families with FH for effective messaging clinicians can use to promote cascade testing uptake. We analyzed narrative data from interviews and surveys collected as part of a larger mixed-methods study. The EPPM was used to identify message features recommended by individuals and families with FH that focus on four key constructs (severity, susceptibility, response efficacy, self-efficacy) to promote cascade testing. Participants included 22 individuals from 11 dyadic interviews and 98 survey respondents. Participants described prioritizing multiple messages that address each EPPM construct to alert relatives about their risk. They illustrated strategies clinicians could use within each EPPM construct to communicate to at-risk relatives about the importance of pursuing diagnosis via cascade testing and subsequent treatment for high cholesterol due to FH. Findings provide guidance on effective messaging to motivate cascade testing uptake for FH and demonstrates how the EPPM may guide communication with at-risk relatives about genetic risk and motivate cascade testing broadly.

Ideally, following an interpersonal transgression an offender will accept responsibility, work through guilt or shame, and be willing to reconcile with the victim. However, this process can be thwarted by defensiveness or self-condemnation. We tested whether humility was associated with increased self-forgiveness, decreased self-condemnation and defensiveness, and increased willingness to reconcile. In Study 1 ( N = 302), we found trait humility was associated with higher levels of trait self-forgiveness directly and indirectly via reduced defensiveness (but not self-condemnation). In Study 2 ( N = 194), we found that trait and state humility were associated with higher levels of self-forgiveness directly and indirectly via reduced defensiveness, and through both of these, humility was positively associated with willingness to reconcile. There was also a weak positive indirect effect of humility on willingness to reconcile via reduced self-condemnation. These studies suggest that humility, long ignored in forgiveness studies, might play several crucial roles.

Introduction: Familial hypercholesterolemia (FH) is an inherited disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. The 2020 FH Global Call to Action, produced by international FH global advocacy organizations, individuals with FH, and scientific experts, provides nine recommendations to reduce premature death and the public health burden of FH. We explored alignment of patient and family member perspectives with these recommendations. Methods: Interviews and focus groups were conducted with individuals with FH and their family members from multiple U.S. health systems and members of the FH Foundation community to identify barriers to identification, cascade testing, and treatment. Patient-centered perspectives were sought to develop solutions that can be implemented. These perspectives were then examined and classified, according to their alignment to recommendations within the FH Global Call to Action. Results: Stories from 75 individuals with FH and family members, who participated in at least one of the qualitative assessments, were analyzed. The table lists the FH Global Call to Action recommendations with patient-centric perspectives abstracted from individuals’ stories. The most common stories and perspectives linked to the recommendations for awareness, screening, diagnosis, testing, and treatment, and family-based care. Conclusions: The Global Call to Action recommendations resonate highly with U.S. FH individuals and their family members. Patient-centric perspectives further address the need to prioritize FH as a global public health concern and support FH education and advocacy efforts.

Introduction: Despite familial hypercholesterolemia (FH) being a common cardiovascular genetic disorder, it is vastly underdiagnosed and undertreated. This is partly due to the lack of systematic screening methods to identify possible FH and little to no implementation of cascade screening approaches in the US. Screening models, such as machine learning algorithms, and family communication methods for cascade screening, such as chatbot technology and direct contact of at-risk relatives by a clinician, may help close the gap in FH identification. Methods: Focus groups were conducted with individuals with FH and clinicians. Focus groups were audio-recorded, transcribed, and coded for acceptability and feasibility of implementing screening models and family communication methods. Results: Individuals with FH and clinicians felt that models analyzing different data sources, including electronic health records, to screen for FH have the potential to activate patients and stimulate patient-clinician conversations about FH. While some expressed privacy and confidentiality concerns, individuals with FH found screening models acceptable, stating that these could have led to an earlier diagnosis and treatment and expressing their frustration with the status quo. Most had a strong desire to be notified of screening models’ outcomes at the same time as their clinician. Clinicians felt strongly that automated models would be helpful in identifying FH. Many with FH felt responsible for notifying their family about FH first; however, some indicated comfort with their clinician, healthcare system, or other professionals helping to communicate FH risk to their relatives via direct contact methods. Further, they indicated a strong willingness to use chatbots to share FH risk information with their relatives. Clinicians felt the need to support their patients and offer their services when sharing FH risk information with relatives, while individuals with FH expressed doubt that their clinicians would have time and resources to provide active support. Conclusions: Individuals with FH and clinicians agreed that FH screening models and enhanced family communication methods would be beneficial, acceptable, and feasible to implement in US healthcare systems.

Guided by the Conceptual Model of Implementation Research, we explored the acceptability, appropriateness, and feasibility of: (1) automated screening approaches utilizing existing health data to identify those who require subsequent diagnostic evaluation for familial hypercholesterolemia (FH) and (2) family communication methods including chatbots and direct contact to communicate information about inherited risk for FH. Focus groups were conducted with 22 individuals with FH (2 groups) and 20 clinicians (3 groups). These were recorded, transcribed, and analyzed using deductive (coded to implementation outcomes) and inductive (themes based on focus group discussions) methods. All stakeholders described these initiatives as: (1) acceptable and appropriate to identify individuals with FH and communicate risk with at-risk relatives, and (2) feasible to implement in current practice. Stakeholders cited current initiatives, outside of FH (e.g., pneumonia protocols, colon cancer and breast cancer screenings), that gave them confidence for successful implementation. Stakeholders described perceived obstacles, such as nonfamiliarity with FH, that could hinder implementation and potential solutions to improve systematic uptake of these initiatives. Automated health data screening, chatbots, and direct contact approaches may be useful for patients and clinicians to improve FH diagnosis and cascade screening.

Background Barriers to genetic testing and subsequent family cascade screening for familial hypercholesterolemia (FH) include cost, patient and provider awareness, privacy and discrimination concerns, need for a physician order, underutilization of genetic counselors, and family concerns about the implications of genetic testing for care. Objectives The objective of the study was to determine the uptake of genetic testing with cost and privacy removed. Methods The FH Foundation offered free genetic testing and counseling to patients in the patient portal of the CASCADE FH Registry, who had not previously undergone genetic testing for 3 genes associated with FH (LDLR, APOB, and PCSK9). The free testing offer was extended to first-degree relatives of participants who had a positive genetic test result for cascade screening. Results Of 435 eligible patients, 147 opted in to participate, 122 consented, and 110 (68.2% female, median age: 52 years) received genetic testing. Of the participants, 64 had a positive genetic test result for a pathogenic variant in LDLR (59) or APOB (5); 11 had a variant of uncertain significance. Only 3 first-degrees relatives underwent genetic testing. Conclusions Although there was substantial interest in genetic testing, uptake of family cascade screening was poor. Innovative approaches to increase family cascade screening should be explored.

Background SLOB binds to and modulates the activity of the Drosophila Slowpoke (dSlo) calcium activated potassium channel. Recent microarray analyses demonstrated circadian cycling of slob mRNA. Results We report the mRNA and protein expression pattern of slob in Drosophila heads. slob transcript is present in the photoreceptors, optic lobe, pars intercerebralis (PI) neurons and surrounding brain cortex. SLOB protein exhibits a similar distribution pattern, and we show that it cycles in Drosophila heads, in photoreceptor cells and in neurosecretory cells of the PI. The cycling of SLOB is altered in various clock gene mutants, and SLOB is expressed in ectopic locations in tim01 flies. We also demonstrate that SLOB no longer cycles in the PI neurons of Clkjrk flies, and that SLOB expression is reduced in the PI neurons of flies that lack pigment dispersing factor (PDF), a neuropeptide secreted by clock cells. Conclusions These data are consistent with the idea that SLOB may participate in one or more circadian pathways in Drosophila.