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

Abstract

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 differs 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.

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

“…As implied by the title UDP, definition of a diagnosis is crucial to understanding the Program’s purpose and approach. Given that a diagnosis is a culturally appropriate explanation for a problem ( 7 ), then, within Occidental medical culture, a diagnosis is a material and rational explanation testable by the scientific method ( 8 ). Within this perspective, diseases arise from malfunctioning biological processes causing harm and are not inclusive of illness caused by loss of mental or social well-being ( 9 , 10 ).…”

A student experience-based teaching to improve the understanding of genotype-phenotype relationship in classroom teaching of medical genetics

“…Indeed, MG has been adopted as one of the obligatory courses for medical students in most medical colleges (Duan et al 2013). The MG course is usually provided in the second or third year as a part of the fundamental medical curriculum, following earlier courses such as Anatomy, Histology, Cell Biology, and Biochemistry and Molecular Biology.…”