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Frontiers of Medicine >> 2013, Volume 7, Issue 3 doi: 10.1007/s11684-013-0281-3

Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China

1. Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, the Fourth Military Medical University, Xi’an 710032, China;

2. NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA

Available online: 2013-09-05

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Despite the current acceleration and increasing leadership of Chinese genetics research, genetics and its clinical application have largely been imported to China from the Occident. Neither genetics nor the scientific reductionism underpinning its clinical application is integral to the traditional Chinese worldview. Given that disease concepts and their incumbent diagnoses are historically derived and culturally meaningful, we hypothesize that the cultural expectations of genetic diagnoses and medical genetics practice differ between the Occident and China. Specifically, we suggest that an undiagnosed diseases program in China will differ from the recently established Undiagnosed Diseases Program at the United States National Institutes of Health; a culturally sensitive concept will integrate traditional Chinese understanding of disease with the scientific reductionism of Occidental medicine.

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