Jessica Goehringer

BACKGROUND Delayed diagnosis of type 1 diabetes (T1D) in children can result in serious health complications. T1D autoantibody screening can identify children with preclinical T1D before complications arise and when treatment may be available to delay symptomatic onset. Although such screening is not currently widely performed, calls for population-level screening are increasing. As population-level screening for T1D is considered, it is essential to develop patient-centered communication strategies and materials to support informed decision-making. Patient-centered communication attending to parents’ psychosocial needs, while considering clinician knowledge and attitudes, has implications for how parents may evaluate T1D health risks and screening. OBJECTIVE This study aimed to optimize patient-facing, digital informational handouts focused on T1D autoantibody screening by understanding how parents and clinicians construct meaning surrounding risk, efficacy, and message framing. METHODS This study applies the Extended Parallel Process Model and Prospect Theory to examine how clinicians and parents perceived parent-facing T1D clinical resource messages related to threat (severity and susceptibility), efficacy (response and self-efficacy), and gain/loss framing. A health communications expert drafted three T1D screening handouts designed for various timepoints in a pediatric patient’s healthcare. Pediatric clinicians and parents of pediatric patients were invited to participate; those who consented were sent the informational handouts for review and participated in one-on-one qualitative interviews between March and September 2024. Participants were asked to provide feedback on handout content and suggest ideas for improvement. Through a theory-informed, constructivist thematic analysis, we investigated the communication elements that motivate T1D screening. Handouts were revised based on interview analysis and member checking was undertaken to assess participant agreement with modifications. RESULTS Interview analysis revealed participant preferences for communication strategies that aligned with principles of the Extended Parallel Process Model and Prospect Theory. Participants emphasized the importance of conveying the seriousness of T1D through clear descriptions of severity and susceptibility while avoiding overly alarming messages that could undermine engagement. Recommendations included providing actionable guidance about how and when to screen, insurance coverage information, and resources to support parent and clinician’s confidence in pursuing recommending screening. Participants favored gain-framed messages such as emphasizing the benefits of early risk identification, access to monitoring and treatment options, and prevention of severe complications compared to loss-frame messages that would focus on negative impacts of not screening. Additionally, clinicians described a need for educational resources and evidence-based protocols to support their screening discussions and management decisions. CONCLUSIONS Findings suggest that communication materials designed to promote pediatric T1D autoantibody screening should balance threat information with actionable, efficacy-based guidance and emphasize the benefits of screening. Integrating EPPM and Prospect Theory principles may help create messages that convey urgency without provoking excessive fear, support parent and clinician confidence, and encourage screening uptake as T1D screening programs expand.

Background: Traceback testing—identifying and offering testing to people with previous cancer diagnoses who have not received current standard genetic testing—could benefit patients and their at-risk relatives. Methods: We conducted a multisite, nonrandomized pilot implementation study of a Traceback program at three integrated United States health systems. We assessed the reach, fidelity, effectiveness, and acceptability of the program using quantitative and qualitative methods. Results: We identified 597 eligible individuals using administrative data and manual chart review. We attempted to reach everyone identified (100% fidelity). We successfully contacted 354 people, for a reach of 59% of confirmed eligible individuals. In total, 133 people completed Traceback genetic testing. Ten of these (8%) received pathogenic or likely pathogenic results;. Nine of these ten people received positive results for which cascade testing of at-risk relatives would be indicated. None of their relatives underwent cascade testing during the study period. Thirty-six received variants of uncertain significance (VUS). Traceback programs were acceptable to participants and implementers and thought to be applicable to other genetic screening conditions. The time and resources required to accurately identify Traceback-eligible individuals are likely determinants of future sustainability. Conclusions: Education about free cascade testing, reminder calls to probands, and offers to directly contact at-risk relatives did not result in cascade testing in this pilot study. However, participant and implementer discussions suggest that the potential benefits of Traceback programs and high participant acceptability are worthy of further study.

Cardiogenetic testing was established 20 years ago; more recently, it began to be incorporated in routine clinical care. Key reasons include expanded knowledge of the genetic basis of cardiovascular disease, wider availability of enriched cardiogenetic testing panels, the issuance of clinical recommendations guiding cardiogenetic testing, and enhanced cardiologists’ awareness. Cardiogenetic testing can be valuable at the levels of diagnosis, prognosis, treatment/ management selection, early disease risk detection, and personalized surveillance strategy. Cardiovascular disease-related genes are incorporated in genetic screening panels currently being evaluated for their potential in disease prevention at the general population level. These rapid developments are increasing the number of individuals requiring genetic counseling and personalized cardiovascular care. Advanced expertise is required to determine when genetic testing is needed, which genetic test is more appropriate, and how the patient and their family members should be prepared for the process. To reap the full benefits of cardiogenetic testing and screening, cardiology and genetics providers must collaborate effectively in the cardiology clinics’ setting. This chapter focuses on cardiomyopathies, arrhythmias, familial hypercholesterolemia, and thoracic aortic aneurysm/dissection, as well as the specialized knowledge that cardiovascular genetic counselors need to serve their indispensable, multifaceted role when caring for individuals with these conditions.

With the increasing availability and adoption of genetic testing in cardiovascular disease (CVD), effective post-testing management is becoming crucial for optimizing patient outcomes and providing personalized care. This chapter focuses on key strategies and considerations for interpreting genetic test results in CVD, navigating complex scenarios such as incidental findings (IFs) and variants of unknown significance (VUS), and utilizing advanced tools and databases for evidence-based interpretation. As genetic testing becomes more integrated into routine clinical practice, the ability to communicate results clearly and accurately to patients and their families is paramount. This chapter provides practical guidance on delivering genetic information in a clinically meaningful way while adhering to international recommendations and addressing sensitive issues like non-paternity disclosure and risk assessment for family members through cascade testing. Special attention is given to the unique challenges of testing minors and the ethical frameworks that guide these decisions. Finally, the chapter addresses the psychosocial implications of CVD genetic testing and offers support strategies to help patients and families navigate the impact of their results. As the field of CVD genetics continues to expand, this comprehensive approach is essential for translating genetic data into actionable insights that enhance patient care and family health management.

Background: Hypermobile Ehlers-Danlos syndrome (hEDS), characterized by joint hypermobility, skin laxity, and tissue fragility, is thought to be the most common inherited connective tissue disorder, with millions affected worldwide. Diagnosing this condition remains a challenge that can impact quality of life for individuals with hEDS. Many with hEDS describe extended diagnostic odysseys involving exorbitant time and monetary investment. This delay is due to the complexity of diagnosis, symptom overlap with other conditions, and limited access to providers. Many primary care providers are unfamiliar with hEDS, compounded by genetics clinics that do not accept referrals for hEDS evaluation and long waits for genetics clinics that do evaluate for hEDS, leaving patients without sufficient options. Objective: This study explored the user experience, quality, and utility of a prototype of a patient-facing diagnostic tool intended to support clinician diagnosis for individuals with symptoms of hEDS. The questions included within the prototype are aligned with the 2017 international classification of Ehlers-Danlos syndromes. This study explored how this tool may help patients communicate information about hEDS to their physicians, influencing the diagnosis of hEDS and affecting patient experience. Methods: Participants clinically diagnosed with hEDS were recruited from either a medical center or private groups on a social media platform. Interested participants provided verbal consent, completed questionnaires about their diagnosis, and were invited to join an internet-based focus group to share their thoughts and opinions on a diagnostic tool prototype. Participants were invited to complete the Mobile App Rating Scale (MARS) to evaluate their experience viewing the diagnostic tool. The MARS is a framework for evaluating mobile health apps across 4 dimensions: engagement, functionality, esthetics, and information quality. Qualitative data were analyzed using affinity mapping to organize information and inductively create themes that were categorized within the MARS framework dimensions to help identify strengths and weaknesses of the diagnostic tool prototype. Results: In total, 15 individuals participated in the internet-based focus groups; 3 (20%) completed the MARS. Through affinity diagramming, 2 main categories of responses were identified, including responses related to the user interface and responses related to the application of the tool. Each category included several themes and subthemes that mapped well to the 4 MARS dimensions. The analysis showed that the tool held value and utility among the participants diagnosed with hEDS. The shareable ending summary sheet provided by the tool stood out as a strength for facilitating communication between patient and provider during the diagnostic evaluation. Conclusions: The results provide insights on the perceived utility and value of the tool, including preferred phrasing, layout and design preferences, and tool accessibility. The participants expressed that the tool may improve the hEDS diagnostic odyssey and help educate providers about the diagnostic process.

In the era of Precision Medicine the approach to disease diagnosis, treatment, and prevention is being transformed across medical specialties, including Cardiology, and increasingly involves genomics approaches. The American Heart Association endorses genetic counseling as an essential component in the successful delivery of cardiovascular genetics care. However, with the dramatic increase in the number of available cardiogenetic tests, the demand, and the test result complexity, there is a need not only for a greater number of genetic counselors but more importantly, for highly specialized cardiovascular genetic counselors. Consequently, there is a pressing need for advanced cardiovascular genetic counseling training, along with innovative online services, telemedicine, and patient-facing digital tools, as the most effective way forward. The speed of implementation of these reforms will be of essence in the translation of scientific advancements into measurable benefits for patients with heritable cardiovascular disease and their families.

BACKGROUND Hypermobile Ehlers-Danlos syndrome (hEDS), characterized by joint hypermobility, skin laxity, and tissue fragility, is thought to be the most common inherited connective tissue disorder, with millions affected worldwide. Diagnosing this condition remains a challenge that can impact quality of life for individuals with hEDS. Many with hEDS describe extended diagnostic odysseys involving exorbitant time and monetary investment. This delay is due to the complexity of diagnosis, symptom overlap with other conditions, and limited access to providers. Many primary care providers are unfamiliar with hEDS, compounded by genetics clinics that do not accept referrals for hEDS evaluation and long waits for genetics clinics that do evaluate for hEDS, leaving patients without sufficient options. OBJECTIVE This study explored the user experience, quality, and utility of a prototype of a patient-facing diagnostic tool intended to support clinician diagnosis for individuals with symptoms of hEDS. The questions included within the prototype are aligned with the 2017 international classification of Ehlers-Danlos syndromes. This study explored how this tool may help patients communicate information about hEDS to their physicians, influencing the diagnosis of hEDS and affecting patient experience. METHODS Participants clinically diagnosed with hEDS were recruited from either a medical center or private groups on a social media platform. Interested participants provided verbal consent, completed questionnaires about their diagnosis, and were invited to join an internet-based focus group to share their thoughts and opinions on a diagnostic tool prototype. Participants were invited to complete the Mobile App Rating Scale (MARS) to evaluate their experience viewing the diagnostic tool. The MARS is a framework for evaluating mobile health apps across 4 dimensions: engagement, functionality, esthetics, and information quality. Qualitative data were analyzed using affinity mapping to organize information and inductively create themes that were categorized within the MARS framework dimensions to help identify strengths and weaknesses of the diagnostic tool prototype. RESULTS In total, 15 individuals participated in the internet-based focus groups; 3 (20%) completed the MARS. Through affinity diagramming, 2 main categories of responses were identified, including responses related to the user interface and responses related to the application of the tool. Each category included several themes and subthemes that mapped well to the 4 MARS dimensions. The analysis showed that the tool held value and utility among the participants diagnosed with hEDS. The shareable ending summary sheet provided by the tool stood out as a strength for facilitating communication between patient and provider during the diagnostic evaluation. CONCLUSIONS The results provide insights on the perceived utility and value of the tool, including preferred phrasing, layout and design preferences, and tool accessibility. The participants expressed that the tool may improve the hEDS diagnostic odyssey and help educate providers about the diagnostic process. CLINICALTRIAL

Understanding unselected individuals’ experiences receiving genetic results through population genomic screening is critical to advancing clinical utility and improving population health. We conducted qualitative interviews with individuals who received clinically actionable genetic results via the MyCode© Genomic Screening and Counseling program. We purposively sampled cohorts to seek diversity in result-related disease risk (e.g., cancer or cardiovascular) and in personal or family history of related diseases. Transcripts were analyzed using a two-step inductive coding process of broad thematic analysis followed by in-depth coding of each theme. Four thematic domains identified across all cohorts were examined: process assessment, psychosocial response, behavioral change due to the genetic result, and family communication. Coding of 63 interviews among 60 participants revealed that participants were satisfied with the results disclosure process, initially experienced a range of positive, neutral, and negative psychological reactions to results, adjusted positively to results over time, undertook clinically indicated actions in response to results, and communicated results with relatives to whom they felt emotionally close. Our findings of generally favorable responses to receiving clinically actionable genetic results via a genomic screening program may assuage fear of patient distress in such programs and guide additional biobanks, genomic screening programs, and research studies.