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Frontiers of Medicine

ISSN 2095-0217

ISSN 2095-0225(Online)

CN 11-5983/R

Postal Subscription Code 80-967

2018 Impact Factor: 1.847

Front Med    2013, Vol. 7 Issue (3) : 389-394     DOI: 10.1007/s11684-013-0281-3
Cultural differences define diagnosis and genomic medicine practice: implications for undiagnosed diseases program in China
Xiaohong Duan1(), Thomas Markello2, David Adams2, Camilo Toro2, Cynthia Tifft2, William A. Gahl2, Cornelius F. Boerkoel2
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
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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.

Keywords genetics      cultural differences      undiagnosed diseases program     
Corresponding Authors: Duan Xiaohong,   
Issue Date: 05 September 2013
URL:     OR
Fig.1  Annual number of articles from Chinese institutions that were published in the ten journals with the highest 5-year impact factors in the discipline of genetics and heredity (2011 JCR data).
1 Marcum JA. Philosophy of Medicine. The Internet Encyclopedia of Philosophy . (Accessed on June8, 2013)
2 Ahn AC, Tewari M, Poon CS, Phillips RS. The limits of reductionism in medicine: could systems biology offer an alternative? PLoS Med 2006; 3(6): e208
doi: 10.1371/journal.pmed.0030208 pmid:16681415
3 Harper PS. A short history of medical genetics. New York: Oxford University Press. 2008
4 Adams J. A Treatise on the Supposed Hereditary Properties of Diseases. London: J. Callow. 1814
5 Bateson WSE. Experimental studies in the physiology of heredity. Report to the Evolution Committee of the Royal Society 1904; 1: 132–134
6 Garrod AE. The incidence of alkaptonuria: a study in chemical individuality. Lancet 1902; ii: 1616–1620
7 Featherstone KBACA. Risky Relations: Family, Kinship and the New Genetics. Oxford, GBR: Berg Publishers. 2005:190
8 Richards M. Jack Tizard Memorial Lecture: Children's Understanding of Inheritance and Family. Child Psychol Psychiatry Review 2000; 5(1): 2–8
9 Richards M. Families, Kinship and Genetics. In: Marteau T, Richards M, editors. The Troubled Helix: Social and Psychological Implications of the New Human Genetics . Cambridge: Cambridge University Press. 1996
10 Childs B. Genetic Medicine: a Logic of Disease. The Johns Hopkins University Press . 1999
11 Carlson EA. The Unfit: a History of a Bad Idea. Cold Spring Harbor Laboratory Press . 2001
12 Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, Carlson-Donohoe H, Gropman A, Pierson TM, Golas G, Wolfe L, Groden C, Godfrey R, Nehrebecky M, Wahl C, Landis DM, Yang S, Madeo A, Mullikin JC, Boerkoel CF, Tifft CJ, Adams D. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med 2012; 14(1): 51–59
doi: 10.1038/gim.0b013e318232a005 pmid:22237431
13 HSU TC. Tongue upfolding: a newly reported heritable character in man. J Hered 1948; 39(6): 187–188
14 Lejeune J, Gautier M, Turpin R. Les chromosomes humains en culture de tissus. C R Acad Sciences 1959; 248(4): 602–603 (in French)
15 Xiang W, Zhu D, Yu M, Liu Z. Chinese chromosome type (preliminary report). Chin Sci Bull (Ke Xue Tong Bao) 1962; 7(6): 40 (in Chinese)
16 Tan JZ, Zhao GM. History of Chinese Genetics. Shanghai: Shanghai Scientific and Technology Education Publishing House. 2002 (in Chinese)
17 Du C. Hereditary red blood cell glucose 6- phosphate dehydrogenase deficiency and related hemolytic mechanism. Prog Physiol Sci (Sheng Li Ke Xue Jin Zhan) 1964; 7(4): 356–360 (in Chinese)
18 Wu M, Ling L. Mitotic karyotype of normal Chinese. Acta Anatomica Sinica(Jie Pou Xue Bao) 1966; 9(3): 326–336 (in Chinese)
19 Department of Obstetrics and Gynaecology THAC. Fetal sex pridiction by sex chromatin of chorionic villi cells during early pregnancy. Chin Med J (Engl) 1975; 1(2): 117–126
20 Niazi M, Coleman DV, Loeffler FE. Trophoblast sampling in early pregnancy. Culture of rapidly dividing cells from immature placental villi. Br J Obstet Gynaecol 1981; 88(11): 1081–1085
doi: 10.1111/j.1471-0528.1981.tb01756.x pmid:7295596
21 Anti-cretinism Institute of Anqing District. Heritability of endermic cretinism. Hereditas (Beijing) (Yi Chuan) 1982; 4(5): 11–12 (in Chinese)
22 Qian Y, Wang Y. Biology, Chinese Academic Canon in the 20th Century. 1 ed. Fujian Education Press . 2004:634 (in Chinese)
23 Human Genome Sequencing Consortium I, 0. Finishing the euchromatic sequence of the human genome. Nature 2004; 431(7011): 931–945
doi: 10.1038/nature03001 pmid:15496913
24 Wang JB, Guo JJ, Yang L, Zhang YD, Sun ZQ, Zhang YJ. Rare diseases and legislation in China. Lancet 2010; 375(9716): 708–709
doi: 10.1016/S0140-6736(10)60240-1 pmid:20189012
25 Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J. A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012. Orphanet J Rare Dis 2012; 7(1): 55
doi: 10.1186/1750-1172-7-55 pmid:22913777
26 Chu JY, Huang W, Kuang SQ, Wang JM, Xu JJ, Chu ZT, Yang ZQ, Lin KQ, Li P, Wu M, Geng ZC, Tan CC, Du RF, Jin L. Genetic relationship of populations in China. Proc Natl Acad Sci USA 1998; 95(20): 11763–11768
doi: 10.1073/pnas.95.20.11763 pmid:9751739
27 Piazza A. Towards a genetic history of China. Nature 1998; 395(6703): 636–637, 639
doi: 10.1038/27071 pmid:9790181
28 Xu XM, Zhou YQ, Luo GX, Liao C, Zhou M, Chen PY, Lu JP, Jia SQ, Xiao GF, Shen X, Li J, Chen HP, Xia YY, Wen YX, Mo QH, Li WD, Li YY, Zhuo LW, Wang ZQ, Chen YJ, Qin CH, Zhong M. The prevalence and spectrum of alpha and beta thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol 2004; 57(5): 517–522
doi: 10.1136/jcp.2003.014456 pmid:15113860
29 Wang W, Wise C, Baric T, Black ML, Bittles AH. The origins and genetic structure of three co-resident Chinese Muslim populations: the Salar, Bo’an and Dongxiang. Hum Genet 2003; 113(3): 244–252
doi: 10.1007/s00439-003-0948-y pmid:12759817
30 Clarke JJ. Oriental Enlightenment: the encounter between Asian and Western thought. Routledge . 1997
31 Hsu FLK. The myth of Chinese family size. Am J Sociol 1943; 48(5):555–562
32 Xu A, Xie X, Liu W, Xia Y, Liu D.Chinese family strengths and resiliency. Faculty Publications, Department of Child, Youth, and Family Studies . Paper 53; 2007 Aug 1.
33 Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010; 42(9): 790–793
doi: 10.1038/ng.646 pmid:20711175
34 Iaccarino M. Science and culture. Western science could learn a thing or two from the way science is done in other cultures. EMBO Rep 2003; 4(3): 220–223
doi: 10.1038/sj.embor.embor781 pmid:12634831
35 Graungaard AH, Skov L. Why do we need a diagnosis? A qualitative study of parents’ experiences, coping and needs, when the newborn child is severely disabled. Child Care Health Dev 2007; 33(3): 296–307
doi: 10.1111/j.1365-2214.2006.00666.x pmid:17439444
36 Wang Q. Individualized medicine, health medicine, and constitutional theory in Chinese medicine. Front Med 2012; 6(1): 1–7
doi: 10.1007/s11684-012-0173-y pmid:22460443
37 Morgan L. Systems of consanguinity and affinity of the human family. University of Nebraska Press . 1870
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