Progress and Perspective of Professional Training in Medical Genetics and Genomics: A Report of the Association of Chinese Geneticists in America

Peining Li, PhD, Hui Z. Zhang, MD, PhD, Zhang, MD, PhD M. Li, MD, Chunli Yu, MD, Ming Qi, PhD, Jingwei Yu, MM, PhD, Bai-Lin Wu, MM, PhD


Medical genetics and genomics is a newly developed clinical specialty built upon accumulated knowledge of human genetics and discoveries of thousands of genetic disorders. Since 1991, medical genetics has been recognized as one of the 24 medical specialties and the American Board of Medical Genetics (ABMG) has organized training programs and provided certifications in clinical genetics, cytogenetics, molecular genetics and biochemical genetics. To publicize and promote this specialty, a task force on professional medical genetics training has been organized by members of the Association of Chinese Geneticists in America (ACGA). This report was written by the task force to outline the principle and practice of professional medical genetics training and review the progress and impacts of medical genetics and genomics in North America. For the past twenty years, the American College of Medical Genetics and Genomics (ACMG) has built a professionally trained work force and developed many policies, guidelines and standards governing clinical services and laboratory diagnostics. Educational programs to improve the knowledge and literacy on medical genetics for other health professionals and general public have been introduced. A comparison of the economic impact between basic genomic research and diagnostic genetic service showed similar impact multipliers in creating jobs and revenues. Genetic and genomic medicine is still in a stage of early development and rapid expansion but has been the driver for transforming ‘diagnostics/counseling’ based disease treatment toward ‘predictive/preventive’ oriented health maintenance. This report is aimed to introduce professional medical genetics training to qualified physicians and graduate students and also facilitate medical genetics specialty in China through professional consultation and exchange training programs.

[N A J Med Sci. 2013;6(4):173-180.   DOI:  10.7156/najms.2013.0604173]


specialty in medical genetics and genomics, core competencies, clinical and economic impact, career perspective

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McKusick VA. Medical Genetics: a 40-year perspective on the evolution of a medical specialty from a basic science. JAMA. 1993; 270(19):2351-2356.

Rimoin DL. The American College of Medical Genetics, the first 20 years. Genet Med. 2011; 13(3):179-187.

Harper PS and Harris R. Medical Genetics in China: a western view, J Med Genet. 1986; 23(5):385-388.

Lo WHY. Prospect of medical genetics in China from a historical point of view. Chin Med Sci J. 2008; 23(2):65-67.

Skirton H, Lewis C, Kent A, Coviello DA; Members of Eurogentest Unit 6 and ESHG Education Committee. Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe. Eur J Hum Genet. 2010; 18(9):972-977.

Robin NH, Sutton VR, Caldwell J, Jackson J, Irons M, Demmer L and the members of the in-service exam subcommittees. The development and implementation of an in-service exam for medical genetics residency programs. Genet Med. 2012;14(5): 552-557.

Naidoo N, Pawitan Y, Soong R, Cooper DN, Ku CS. Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics. 2011;5(6):577-622.

Wei Y, Xu F, Li P. Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetic evaluation. J Genet Genomics. 2013;40(1):1-14.

Galas DJ, Hood L. Systems biology and emerging technologies will catalyze the transition from reactive medicine to predictive, personalized, preventive and participatory (P4) medicine. IBC 2009; 1:6:1-5.

Fears R, Weatherall D, Poste G. The impact of genetics on medical education and training. Brit Med Bulletin. 1999; 55(2):460-470.

Epstein CJ. Medical Genetics in the Genomic Medicine of the 21st Century. Am J Hum Genet. 2006;79(9):434-438.

Korf BR. Genetics and genomics education: The next generation. Genet Med. 2011;13(3):201-202.

American College of Medical Genetics Newborn Screening Expert Group. Newborn screening: toward a uniform screening panel and system--executive summary. Pediatrics. 2006; 117(5):S296-307.

Kemper AR, Trotter TL, Lloyd-Puryear MA, Kyler P, Feero WG, Howell RR. A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and children. Genet Med. 2010;12(2):77-80.

Institute of Medicine (US) Committee on Genomics and the Public's Health in the 21st Century; Hernandez LM, editor. Implications of Genomics for Public Health: Workshop Summary. Washington (DC): National Academies Press (US); 2005.

Kolor K, Duquette D, Zlot A, et al. Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice. Genet Med. 2012;14(10):860-867.

Kung JT, Gelbart ME. Getting a head start: the importance of personal genetics education in high schools. Yale J Biol Med. 2012; 85(1):87-92.

Bowling BV, Acra EE, Wang L, et al. Development and evaluation of a genetics literacy assessment instrument for undergraduates. Genetics. 2008;178(1):15-22.

Kirk M, Calzone K, Arimori N, Tonkin E. Genetics-genomics competencies and nursing regulation. J Nurs Scholarsh. 2011;43(2):


Houwink EJ, Henneman L, Westerneng M, van Luijk SJ, Cornel MC, Dinant JG, Vleuten CV. Prioritization of future genetics education for general practitioners: a Delphi study. Genet Med. 2012;14(3):323-329.

Li MM, Andersson HC. Clinical application of microarray-based molecular cytogenetics: an emerging new era of genomic medicine. J Pediatr. 2009;155(3):311-317.

Yu Y, Wu BL, Wu J, Shen Y. Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics. Clin Chem. 2012;58(11):1507-1509.

Zhao X, Wang P, Tao X, Zhong N. Genetic services and testing in China. J Community Genet. [DOI 10.1007/s12687-013-0144-2, ePub Online 18 April 2013]

Chen TJ, Zhong N. Medical genetics is playing an important role in the public health care in China, Beijing Da Xu Xue Bao. 2005;37(1):5-7.

Li MM. Advanced molecular and cytogenetic technologies in birth defect diagnosis and prevention. Beijing Da Xue Xue Bao. 2005; 37(1):14-19.

Huang TS, Qi M. Report-21st centruy medical genetic and genomic medicine in China. J Zhejiang Univ Sci B. 2005; 6(12):1223-1226.

Huang SZ, Gao Y-Z. History of medical genetics in China. Beijing Da Xu Xue Bao. 2006;38(1):9-13.


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