Integrating clinical genetics in cardiology: Current practices and recommendations for education.

PURPOSE: Recent advances in genetics can facilitate the identification of at-risk individuals and diagnosis of cardiovascular disorders. As a nascent field, more research is needed to optimize the clinical practice of cardiovascular genetics, including the assessment of educational needs to promote appropriate use of genetic testing. METHODS: Qualitative interviews conducted with cardiovascular specialists (N = 43) were audiotaped. Thematic analysis was conducted on professional transcripts. RESULTS: Participants recognized the value of genetics in identifying and diagnosing at-risk individuals. However, organizational systems, cost, and feeling of unpreparedness were identified as barriers. Participants felt that the rapid pace of genetic science resulted in further challenges to maintaining an adequate knowledge base and highlighted genetics experts' importance. Even when a genetics expert was available, participants wanted to know more about which patients benefit most from genetic testing and expressed a desire to better understand management recommendations associated with a positive test result. CONCLUSION: Participants recognized the benefit but felt underprepared to provide recommendations for genetic testing and, in some cases, lacked organizational resources to refer patients to a genetics expert. Additional training in genetics for cardiology practitioners and ensuring availability of a genetics expert can improve the use of genetics in cardiology settings.

Practitioners' Confidence and Desires for Education in Cardiovascular and Sudden Cardiac Death Genetics.

Background Educating cardiologists and health care professionals about cardiovascular genetics and genetic testing is essential to improving diagnosis and management of patients with inherited cardiomyopathies and arrhythmias and those at higher risk for sudden cardiac death. The aim of this study was to understand cardiology and electrophysiology practitioners' current practices, confidence, and knowledge surrounding genetic testing in cardiology and desired topics for an educational program. Methods and Results A one-time survey was administered through purposive email solicitation to 131 cardiology practitioners in the United States. Of these, 107 self-identified as nongenetic practitioners. Over three quarters of nongenetic practitioners reported that they refer patients to genetic providers to discuss cardiovascular genetic tests (n=82; 76.6%). More than half of nongenetic practitioners reported that they were not confident about the types of cardiovascular genetic testing available (n=60; 56%) and/or in ordering appropriate cardiovascular genetic tests (n=66; 62%). In addition, 45% (n=22) of nongenetic practitioners did not feel confident making cardiology treatment recommendations based on genetic test results. Among all providers, the most desired topics for an educational program were risk assessment (94%) and management of inherited cardiac conditions based on guidelines (91%). Conclusions This study emphasizes the importance of access to genetics services in the cardiology field and the need for addressing the identified deficit in confidence and knowledge about cardiogenetics and genetic testing among nongenetic providers. Additional research is needed, including more practitioners from underserved areas.

The communication of uncertainty in health: A scoping review.

OBJECTIVE: To conduct a scoping review of existing studies that examine communication strategies that address uncertainty in health and categorize them using the taxonomy of uncertainty. METHODS: Relevant articles retrieved from ten databases were categorized according to the dimensions of the taxonomy of uncertainty, and study characteristics were extracted from each article. RESULTS: All articles (n = 63) explored uncertainty in the context of probabilistic risk and related to scientific issues (n = 63; 100%). The majority focused on complexity (n = 24; 38.1%) and uncertainty experienced by patients (n = 52; 82.5%). Most utilized quantitative methods (n = 46; 73.0%), hypothetical scenarios (n = 49; 77.8%), and focused on cancer (n = 20; 31.7%). Theory guided messages and study design in fewer than half (n = 27; 42.9%). CONCLUSIONS: Heterogeneity in terminology used to refer to different types of uncertainties preclude a unified research agenda on uncertainty communication. Research predominately focuses on probability as the source of uncertainty, uncertainties related to scientific issues, and uncertainty experienced by patients. PRACTICE IMPLICATIONS: Additional efforts are needed to understand providers' experience of uncertainty, and to identify strategies to address ambiguity. Future studies should use consistent terminology to allow for coherence and advancement of uncertainty communication scholarship. Continued efforts to refine the existing taxonomy should be undertaken.

How patients deal with an ambiguous medical test: Decision-making after genetic testing.

OBJECTIVE: We know little about how patients make decisions when they receive a variant of uncertain significance result (VUS) from genetic testing. The purpose of this study was to elucidate a model of patient-informed decision-making after receiving a VUS result. METHODS: Using an adapted Mental Models Approach, we conducted semi-structured interviews with women who received a VUS result from genetic testing for hereditary breast cancer (N = 20) to explore factors they believed were relevant to their decision-making. Two coders used a coding scheme informed by experts in hereditary breast cancer to conduct analysis. Inter-coder reliability was α = .86. RESULTS: Three overarching decision themes emerged from the interviews: managing ambiguity, medical risk management, and sharing results with others. While participants noted some difficulty understanding their result, genetic counselors' interpretations, psychosocial factors (e.g., risk perceptions), and competing extrinsic demands influenced their decisions. CONCLUSION: Complex influences affect patient decision-making after a VUS result from genetic testing and may encourage health protective behavior. PRACTICE IMPLICATIONS: Even patients who understand their test result could use support managing the ambiguity of their test result and sharing it with others.

Use of Evidence-Based Best Practices and Behavior Change Techniques in Breast Cancer Apps: Systematic Analysis.

BACKGROUND: Theoretically designed mobile health (mHealth) breast cancer interventions are essential for achieving positive behavior change. In the case of breast cancer, they can improve the health outcomes of millions of women by increasing prevention and care efforts. However, little is known about the theoretical underpinnings of breast cancer apps available to the general public. OBJECTIVE: Given that theories may strengthen mHealth interventions, this study aimed to identify breast cancer apps designed to support behavior change, to assess the extent to which they address content along the cancer care continuum and contain behavior change techniques, and to assess the degree to which star rating is related to theory-based design. METHODS: Using a criteria-based screening process, we searched 2 major app stores for breast cancer apps designed to promote behavior change. Apps were coded for content along the cancer care continuum and analyzed for behavior change techniques. The Mann-Whitney U test was used to examine the relationship between star ratings and the use of behavior change techniques in apps with star ratings compared to those without ratings. RESULTS: The search resulted in a total of 302 apps, of which 133 were identified as containing breast cancer content. Only 9.9% (30/302) of apps supported behavior change and were further analyzed. These apps were disproportionally focused on behaviors to enhance early detection, whereas only a few apps supported care management, treatment, and posttreatment behaviors. Regarding theories, 63% (19/30) of apps customized content to users, 70% (21/30) established a health-behavior link, and 80% (24/30) provided behavior change instructions. Of the 30 apps, 15 (50%) prompted intention formation whereas less than half of the apps included goal setting (9/30, 30%) and goal reviewing (7/30, 23%). Most apps did not provide information on peer behavior (7/30, 23%) or allow for social comparison (6/30, 20%). None of the apps mobilized social norms. Only half of the apps (15/30, 50%) were user rated. The results of the Mann-Whitney U test showed that apps with star ratings contained significantly more behavior change techniques (median 6.00) than apps without ratings. The analysis of behavior change techniques used in apps revealed their shortcomings in the use of goal setting and social influence features. CONCLUSIONS: Our findings indicate that commercially available breast cancer apps have not yet fully realized their potential to promote behavior change, with only a minority of apps focusing on behavior change, and even fewer including theoretical design to support behavior change along the cancer care continuum. These shortcomings are likely limiting the effectiveness of apps and their ability to improve public health. More attention needs to be paid to the involvement of professionals in app development and adherence to theories and best practices in app design to support individuals along the cancer care continuum.

Sex Ed to Go: A Content Analysis of Comprehensive Sexual Education Apps.

Mobile applications ("apps") designed for sexual health education have the potential to reach teens and young adults that are hard to reach through traditional platforms; however, little is known about availability of these apps and their adherence to existing guidelines. Following a search on the two major app stores, data from 2,693 apps were analyzed. Only 697 (25%) addressed sexual health, and only 15 (1%) of apps met inclusion criteria for comprehensive programs and their content was further analyzed. The content of most of these apps narrowly focused on sexually transmitted infections and pregnancy prevention and lacked information on puberty, sexual identity, and personal safety. Theoretically grounded strategies including self-efficacy and modeling behavior to strengthen behavior change efforts were largely absent. Last, we identified significant shortcomings in the literate design of these apps, including limited use of interactive features, such as videos, quizzes, or games. These findings indicate that the potential of apps as sexual health promotion tools has not yet been fully realized. We outline recommendations for developing theory- and evidence-based sexual education apps and provide suggestions for health educators on how to select relevant apps when working for youth.