Human-Centered Design Study to Inform Traceback Cascade Genetic Testing Programs at Three Integrated Health Systems.

INTRODUCTION: A traceback genetic testing program for ovarian cancer has the potential to identify individuals with hereditary breast and ovarian cancer and their relatives. Successful implementation depends on understanding and addressing the experiences, barriers, and preferences of the people served. METHODS: We conducted a remote, human-centered design research study of people with ovarian, fallopian tube, or peritoneal cancer (probands) and people with a family history of ovarian cancer (relatives) at three integrated health systems between May and September 2021. Participants completed activities to elicit their preferences about ovarian cancer genetic testing messaging and to design their ideal experience receiving an invitation to participate in genetic testing. Interview data were analyzed using a rapid thematic analysis approach. RESULTS: We interviewed 70 participants and identified five preferred experiences for a traceback program. Participants strongly prefer discussing genetic testing with their doctor but are comfortable discussing with other clinicians. The most highly preferred experience for both probands and relatives was to discuss with a knowledgeable clinician who could answer questions, followed by directed (sent directly to specific people) or passive (shared in a public area) communication. Repeated contact was acceptable for reminders. CONCLUSION: Participants were open to receiving information about traceback genetic testing and recognized its value. Participants preferred discussing genetic testing with a trusted clinician. Directed communication was preferable to passive communication. Other valued information included how genetic tests help their family and the cost of genetic testing. These findings are informing traceback cascade genetic testing programs at all three sites.

Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.

BACKGROUND: Limited information is available regarding clinician and participant behaviors after disclosure of genomic risk variants for familial hypercholesterolemia (FH) from a population genomic screening program. METHODS: We conducted a retrospective cohort study of MyCode participants with an FH risk variant beginning 2 years before disclosure until January 16, 2019. We analyzed lipid-lowering prescriptions (clinician behavior), medication adherence (participant behavior), and LDL (low-density lipoprotein) cholesterol levels (health outcome impact) pre- and post-disclosure. Data were collected from electronic health records and claims. RESULTS: The cohort included 96 participants of mean age 57 (22-90) years with median follow-up of 14 (range, 3-39) months. Most (90%) had a hypercholesterolemia diagnosis but no specific FH diagnosis before disclosure; 29% had an FH diagnosis post-disclosure. After disclosure, clinicians made 36 prescription changes in 38% of participants, mostly in participants who did not achieve LDL cholesterol goals pre-disclosure (81%). However, clinicians wrote prescriptions for fewer participants post-disclosure (71/96, 74.0%) compared with pre-disclosure (81/96, 84.4%); side effects were documented for most discontinued prescriptions (23/25, 92%). Among the 16 participants with claims data, medication adherence improved (proportion of days covered pre-disclosure of 70% [SD, 24.7%] to post-disclosure of 79.1% [SD, 27.3%]; P=0.05). Among the 52 (54%) participants with LDL cholesterol values both before and after disclosure, average LDL cholesterol decreased from 147 to 132 mg/dL (P=0.003). CONCLUSIONS: Despite disclosure of an FH risk variant, nonprescribing and nonadherence to lipid-lowering therapy remained high. However, when clinicians intensified medication regimens and participants adhered to medications, lipid levels decreased.

Perspectives of Rural Primary Care Clinicians on Pediatric Attention-Deficit/Hyperactivity Disorder Care.

OBJECTIVE: Despite efficacious treatments, evidence-based guidelines, and increased availability of integrated behavioral health care, youth coping with attention-deficit/hyperactivity disorder (ADHD) receive suboptimal care. More research is needed to understand and address care gaps, particularly within rural health systems that face unique challenges. We conducted a qualitative study within a predominantly rural health system with a pediatric-integrated behavioral health care program to address research gaps and prepare for quality improvement initiatives, including primary care clinician (PCC) trainings and clinical decision support tools in the electronic health record (EHR). METHOD: Semistructured interviews were conducted with 26 PCCs representing clinics within the health system. Interview guides were based on the Practical Robust Implementation and Sustainability Model to elicit PCC views regarding determinants of current practices and suggestions to guide quality improvement efforts. We used thematic analysis to identify patterns of responding that were common across participants. RESULTS: PCCs identified several internal and external contextual factors as determinants of current practices. Of note, PCCs recommended increased access to continuing education trainings held in clinic over lunch and delivered in less than 30 minutes. Suggested improvements to the EHR included incorporating parent and teacher versions of the Vanderbilt Rating Scale into the EHR, documentation templates aligned with evidence-based guidelines, and alerts and suggestions to aid medication management during appointments. CONCLUSION: Future research to identify implementation strategies to help rural PCCs adopt innovations are needed given the increased responsibility for managing ADHD care and intractable gaps in access to behavioral health care in rural regions.

Engaging Parents and Health Care Stakeholders to Inform Development of a Behavioral Intervention Technology to Promote Pediatric Behavioral Health: Mixed Methods Study.

BACKGROUND: Despite effective psychosocial interventions, gaps in access to care persist for youth and families in need. Behavioral intervention technologies (BITs) that apply psychosocial intervention strategies using technological features represent a modality for targeted prevention that is promising for the transformation of primary care behavioral health by empowering parents to take charge of the behavioral health care of their children. To realize the potential of BITs for parents, research is needed to understand the status quo of parental self-help and parent-provider collaboration to address behavioral health challenges and unmet parental needs that could be addressed by BITs. OBJECTIVE: The aim of this study is to conduct foundational research with parents and health care stakeholders (HCS) to discover current practices and unmet needs related to common behavioral health challenges to inform the design, build, and testing of BITs to address these care gaps within a predominantly rural health system. METHODS: We conducted a convergent mixed-parallel study within a large, predominantly rural health system in which the BITs will be developed and implemented. We analyzed data from parent surveys (N=385) on current practices and preferences related to behavioral health topics to be addressed in BITs along with focus group data of 48 HCS in 9 clinics regarding internal and external contextual factors contributing to unmet parental needs and current practices. By comparing and relating the findings, we formed interpretations that will inform subsequent BIT development activities. RESULTS: Parents frequently endorsed several behavioral health topics, and several topics were relatively more or less frequently endorsed based on the child's age. The HCS suggested that BITs may connect families with evidence-based guidance sooner and indicated that a web-based platform aligns with how parents already seek behavioral health guidance. Areas of divergence between parents and HCS were related to internalizing problems and cross-cutting issues such as parenting stress, which may be more difficult for health care HCS to detect or address because of the time constraints of routine medical visits. CONCLUSIONS: These findings provide a rich understanding of the complexity involved in meeting parents' needs for behavioral health guidance in a primary care setting using BITs. User testing studies for BIT prototypes are needed to successfully design, build, and test effective BITs to empower parents to take charge of promoting the behavioral health of their children.

Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program.

Ovarian cancer (OVCA) patients may carry genes conferring cancer risk to biological family; however, fewer than one-quarter of patients receive genetic testing. "Traceback" cascade testing -outreach to potential probands and relatives-is a possible solution. This paper outlines a funded study (U01 CA240747-01A1) seeking to determine a Traceback program's feasibility, acceptability, effectiveness, and costs. This is a multisite prospective observational feasibility study across three integrated health systems. Informed by the Conceptual Model for Implementation Research, we will outline, implement, and evaluate the outcomes of an OVCA Traceback program. We will use standard legal research methodology to review genetic privacy statutes; engage key stakeholders in qualitative interviews to design communication strategies; employ descriptive statistics and regression analyses to evaluate the site differences in genetic testing and the OVCA Traceback testing; and assess program outcomes at the proband, family member, provider, system, and population levels. This study aims to determine a Traceback program's feasibility and acceptability in a real-world context. It will account for the myriad factors affecting implementation, including legal issues, organizational- and individual-level barriers and facilitators, communication issues, and program costs. Project results will inform how health care providers and systems can develop effective, practical, and sustainable Traceback programs.