Opportunities and Challenges in Molecular Genetic Testing in China: The Experience of an Academic Center for Clinical Molecular Medicine

Molecular genetic testing and molecular pathology are relatively new but rapidly growing fields in China. This article reports on the experience of providing molecular genetic testing at the Center for Clinical Molecular Medicine (CCMM) of Chongqing Medical University in China. This center is the first of such centers in the southwestern region of China and implements a spectrum of genetic tests on constitutional cytogenetics, oncology cytogenetics, molecular cytogenetics, molecular genetics, molecular oncology, metabolic genetics, and newborn screening. The annual test volume had a 78-fold increase in the past five years and reached approximately 380,000 tests in 2012. This tremendous growth reflects both great opportunities and challenges for China’s healthcare system. Some of the challenges such as the lack of a medical genetics professionals and qualified training programs for clinical geneticists, laboratory specialists and genetic counselors are discussed.