UC Irvine

In the era of personalized and genomic medicine, awareness of patients with rare diseases is increasing as new approaches to diagnosis and treatment are developed. This study examined perceived barriers that families with rare diseases experience and explored possible differences between participants in Malaysia and the US. The study involved n=108 participants recruited in genetics clinic appointments at the University of Malaya Medical Center and three sites in Southern California. Participants completed a survey involving multiple choice and Likert scale items pertaining to perceived barriers in access to healthcare. Results from this study provide evidence of cultural differences in how patients experience potential barriers to receiving healthcare. The most frequently cited largest stressor in Malaysia was the knowledge of inheritance of the condition, while financial concerns were cited most frequently in the US. Similarities between participants in the two countries were also noted, such as the perception that expanding healthcare provider knowledge of rare diseases would be most beneficial. In both locations, it was also noted that travel distance to clinic was not perceived as a large stress factor. Taking these observations together, a healthcare model with a central location of providers well-versed in medical genetics is suggested. The data support a need for improving healthcare provider knowledge of rare disease and cultural sensitivity regarding genetic counseling of the inheritance of disease. Future studies exploring how these perceived stress factors are impacting families as well as different methods of educating providers are suggested by findings from the study.