Abstract
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 experienced by families with rare diseases and explored possible differences between participants in Malaysia and California, USA. 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 to access genetics-related healthcare. Results from this study provide evidence of similar perceived barriers, despite differences in the two populations. Participants selected the expansion of healthcare provider knowledge of rare diseases to be the most beneficial approach to overcome perceived barriers. 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 may be considered if further data support our findings. The data from this study support a need for improving healthcare provider knowledge of genetics. 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, as well as studies querying the opinions of those who are unable to access genetics services.
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Acknowledgements
We would like to thank the translators for converting the documents and responses. We also thank the following genetic counselors and physicians who allowed us to recruit participants at their clinics: Dr. Premala Muthukumarasamy and Ms. Rifhan Azwani Mazlan at UMMC; Dr. Natalie Gallant, Dr. Valerie Watiker, Kathryn Singh, and Katherine Hall at LBMMC; Dr. Maureen Bocian, Dr. Virginia Kimonis, Dr. June Anne Gold, and Meredith Jones at UCI and CHOC. We would also like to thank the participants and their families who completed the surveys. This research was conducted in order to fulfill a master’s degree requirement at the University of California Irvine School of Medicine.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
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Qian, E., Thong, MK., Flodman, P. et al. A comparative study of patients’ perceptions of genetic and genomic medicine services in California and Malaysia. J Community Genet 10, 351–361 (2019). https://doi.org/10.1007/s12687-018-0399-8
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DOI: https://doi.org/10.1007/s12687-018-0399-8