BACKGROUND: Cascade testing can be highly effective in identifying individuals with familial hypercholesterolemia (FH) and help prevent atherosclerotic cardiovascular disease. The IMPACT-FH cascade testing program offered multiple optimized implementation strategies to improve FH cascade testing uptake. OBJECTIVE: Guided by the Conceptual Model of Implementation Research, this study assessed the METHODS: Implementation outcomes were assessed qualitatively and quantitatively. Interviews were conducted with 33 IMPACT-FH program participants including 15 probands, 12 relatives, and 6 healthcare professionals (HCPs). Transcripts were analyzed using thematic analysis to investigate implementation outcomes. Descriptive statistics were analyzed for scaled implementation outcome measures asked after interviews. RESULTS: Participants described adopting strategies offered in the IMPACT-FH program because they presented an opportunity to pursue low-cost FH cascade testing. Participants identified barriers to feasibility including: the complexity of disclosing an FH result and offering strategies, inherent limitations of probands choosing strategies, confusion over testing costs, limitations sharing with relatives' clinicians, discomfort with chatbot technology, and concerns about the workload for HCPs. Participants evaluated the program positively regarding its appropriateness (Mean (M) = 4.70, Standard Deviation (SD) = 0.41), acceptability (M = 4.79, SD = 0.40), and feasibility (M = 4.24, SD = 0.53). CONCLUSION: The IMPACT-FH cascade testing program and its strategies were evaluated as valuable to adopt and highly appropriate, acceptable, and feasible by participants. Participants identified areas to enhance the program that could improve FH cascade testing uptake. (c) 2024 National Lipid Association. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)

Early identification of hereditary cancer predisposition in adolescents and young adults represents a unique opportunity to target cancer prevention and improve survival in a population at risk for adverse health outcomes. However, adolescents and young adults face challenges unique to their stage of life that can undermine their transition from pediatric to adult healthcare and lead to interruptions in preventative care. The purpose of this study was to understand expert perspectives on factors relevant to designing and implementing a transition clinic for adolescents and young adults with hereditary cancer predisposition. We used qualitative methods informed by human-centered design and implementation science to identify implementation considerations rooted in clinician experience. To understand clinic design and clinician experience at Geisinger transition clinics, we conducted a contextual inquiry using clinic observations and follow-up interviews of clinicians. To learn about designing and implementing a transition program, we also conducted in-depth interviews with national transition experts actively involved in developing, implementing, or participating in transition clinics around the United States. The contextual inquiry resulted in three diagrams depicting the following common elements of transition clinics at our institution: relationship building with patients, care coordination, stepwise transition education, communication between providers, and a sustainable clinic home. Interviews were analyzed deductively using thematic analysis to learn clinician perspectives about program implementation specific to each domain of the RE-AIM theoretical framework: reach, effectiveness, adoption, implementation, and maintenance.

Increasingly, pregnant people in the United States are choosing to give at birth at home, and certified professional midwives (CPMs) often attend these births. Care by midwives, including home birth midwives, has the potential to decrease unnecessary medical interventions and their associated health care costs, as well as to improve maternal satisfaction with care. However, lack of integration into the health care system affects the ability of CPMs to access standard medications and testing for their clients, including prenatal screening. Genetics and genomics are now a routine part of prenatal screening, and genetic testing can contribute to identifying candidates for planned home birth. However, research on genetics and midwifery care has not, to date, included the subset of midwives who attend the majority of planned home births, CPMs. The purpose of this study was to examine CPMs’ access to, and perspectives on, one aspect of prenatal care, genetic counselors and genetic counseling services. Using semi-structured interviews and a modified grounded theory approach to narrative analysis, we identified three key themes: (1) systems-level issues with accessing information about genetic counseling and genetic testing; (2) practice-level patterns in information delivery and self-awareness about knowledge limitations; and (3) client-level concerns about the value of genetic testing relative to difficulties with access and stress caused by the information. The results of this study can be used to develop decision aids that include information about genetic testing and genetic counseling access for pregnant people intending home births in the United States.