Improving Quality of Genetic Testing through Participation in International Proficiency Testing Programs

Over the past decade, China has experienced rapid growth in the field of clinical genetic testing. However, considerable variations exist in testing practices among the laboratories, in part due to the lack of comprehensive standards, guidelines, and inter-laboratory proficiency testing programs. Here, we report the quality improvement experience of a major academic genetic testing center in China through participation in American proficiency testing program s for newborn screening and cytogenetics. Our experience highlights the importance of inter-laboratory proficiency testing in improving genetic testing quality, and the needs to develop robust proficiency programs to advance the field of genetics and genomics medicine in China.