The increasing numbers of genetic tests in clinical settings have identified many variants of uncertain significance (VUS) in genes associated with inherited cardiac arrhythmias and inherited cardiomyopathies. Evaluation of clinical practices including counseling strategies and medical management recommendations for patients and their families is important to improve patient outcomes and prevent over- or under-treatment that may result in morbidity or fatality. The purpose of this study is to describe provider practices related to VUS results including how they conduct risk assessments and ascertain what information and medical management recommendations they provide to patients with VUS results and the patients’ family members. Additionally, we aim to describe providers’ concerns and informational needs related to counseling about a VUS. An anonymous online survey was developed for the current study and distributed to genetic counselors through the National Society of Genetic Counselors (NSGC) listerv and to cardiologists via emails obtained from publicly available resources. The survey explored healthcare providers’ confidence in counseling about a VUS, explanation of a VUS to patients, topics covered before and after genetic testing, and recommendations for patients with a VUS and their families using clinical vignettes. Providers (N=102) who completed the survey included 29 cardiovascular genetic counselors, 50 genetic counselors from other specialties, and 23 cardiologists. A hypothetical clinical scenario was used in which a young adult patient had a VUS in a gene causing Arrhythmogenic Right Ventricular Cardiomyopathy, but did not meet clinical diagnostic criteria for the condition. The patient’s only concerning issues included a personal history of fainting during exercising and sudden death of a 45 year old first-degree relative. Nearly 9% of all providers incorrectly described the VUS as likely pathogenic, while 15% would downplay the finding by indicating the VUS is more likely to eventually be reclassified as benign. Genetic counselors feel more confident about counseling about VUS results (p<0.001). Both cardiovascular genetic counselors and cardiologists feel confident in making medical management recommendations; however, cardiologists are more likely to recommend treatment with beta-blockers and exercise limitation for the patient. Compared to cardiac genetic counselors, other genetic counselors (p=0.001) and cardiologists (p=0.014) were more likely to recommend clinical testing for family members even though testing is expected to be uninformative, especially given the absence of any clinical diagnosis in the family. These findings highlight the expertise of different providers in different specialty area and suggest the need for interdisciplinary clinics that include cardiologists, cardiac genetic counselors, nurses, geneticists, psychologists and others to optimize care for challenging cases where VUS results create uncertainty.

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Type 2 diabetes mellitus (T2DM) is now increasingly diagnosed in children and adolescents at an alarming rate, especially in youth from diverse ethnic backgrounds. Youth diagnosed with T2DM and their families face many challenges associated with the illness and its complications. Given that the prevalence of T2DM in youth is a recent trend, most of the studies examining T2DM have been conducted with adults. The current study expands the literature base of youth with T2DM by collecting demographic and clinical data of youth with T2DM and their families. Regression analyses were used to investigate the relationship among youth's executive function, their body mass index (BMI) and glycosylated hemoglobin (HbA1c) level. Furthermore, the study analyzed the relationship among depressive symptoms and health related quality of life (HRQOL) in youth, and the role of family members in sharing of tasks related to T2DM care and the youth's HRQOL. Results of this study demonstrated that executive function does not predict a youth's HbA1c, nor their BMI. Interestingly, one of the more significant findings to emerge from this study is that youth's rating of their ability to adjust to changes in routine or task demands and their ability to modulate emotions significantly correlated with their BMI. Results also demonstrated that HbA1c does not mediate the relationship between depressive symptoms and HRQOL, nor the relationship between the family sharing of responsibilities related to T2DM tasks and HRQOL. Future research examining the relationship among psychological and family characteristics can aid the development of diabetes prevention and treatment management.