Barriers and Facilitators to Genetic Service Delivery Models: Scoping Review

Background Advances in diagnostics testing and treatment of genetic conditions have led to increased demand for genetic services in the United States. At the same time, there is a shortage of genetic services professionals. Thus, understanding the models of service delivery currently in use can help increase access and improve outcomes for individuals identified with genetic conditions. Objective This review aims to provide an overview of barriers and facilitators to genetic service delivery models to inform future service delivery. Methods We conducted a scoping literature review of the evidence to more fully understand barriers and facilitators around the provision of genetic services. Results There were a number of challenges identified, including the limited number of genetics specialists, wait time for appointments, delivery of services by nongenetics providers, reimbursement, and licensure. The ways to address these challenges include the use of health information technology such as telehealth, group genetic counseling, provider-to-provider education, partnership models, and training; expanding genetic provider types; and embedding genetic counselors in clinical settings. Conclusions The literature review highlighted the need to expand access to genetic services. Ways to expand services include telehealth, technical assistance, and changing staffing models. In addition, using technology to improve knowledge among related professionals can help expand access.

Awareness of prenatal genetic tests and attitude towards termination of pregnancy regarding fetal congenital heart defects among clinicians in China: a multi-center cross-sectional study

Background: This study was aim to figure out the level of awareness about providing genetic tests and the attitude towards termination of pregnancy (TOP) regarding fetal congenital heart defects (CHD) among clinicians in China.Methods: A total of 501 clinicians were divided into 2 groups: clinicians whose working hospital were available of prenatal genetic service were assigned into group 1, whose working hospital were not available of prenatal genetic service were assigned to group 2. The level of awareness and the attitude were evaluated according to scores of a questionnaire. Results: Among the 501 total clinicians, only 27.94% received a high score and 53.09% received a medium score, indicating a low level of awareness about prenatal genetic tests among clinicians. 31.62% clinicians in group 1, but only 24.19% in group 2 showed good awareness of providing genetic tests (P=0.023). About 44.3% of clinicians in group 1, but only by 29.4% of those in group 2 held optimistic attitudes towards minor CHDs and were less favor of TOP in minor CHDs (P=0.023). Conclusion: Prenatal genetic tests and counseling in hospital are necessary and should be improved in the management of fetal CHD in China.