Exploring the Challenges to Accessing Genetic Services

Abstract

Genetic services, such as genetic testing are key in identifying genetic predisposition as well as aiding medical management. Genetic testing that results in a Variant of Uncertain Significance (VUS) can make medical management challenging. A higher rate of VUSs are seen in individuals of the minority community due to the lack of diversity of those participating in genetic testing. Racial and ethnic disparities have continued to be evident among health care, including clinical genetics. Healthcare providers play a role in identifying individuals who would benefit from having access to genetic services, however, there are some barriers, including lack of training, knowledge, resources, and lengthy wait times that hinder patient care. In our originally proposed study, we identified a family who identifies as part of the minority community that had a medical journey highlighting many of the barriers observed in minorities trying to access genetic healthcare. Some of those barriers include not being properly identified for a genetic referral with a suspicious family history, specifically in cardiovascular care, high return of VUSs for those who underwent genetic testing, and overall having access to proper genetic providers. Within this literature review, we will examine the difficulties those who identify as a racial or ethnic minority may face when trying to gain access to genetic services, high VUS rates in individuals of non-European ancestry, and how these issues can play a role in cardiac care. We will also discuss the originally proposed study and the barriers experienced by the targeted family and how this exemplifies the difficulties seen with those in minority communities accessing services and participating in research.