J Korean Med Assoc.  2006 Jul;49(7):577-582. 10.5124/jkma.2006.49.7.577.

Evidence-based Entry of Genetic Testing

  • 1Department of Laboratory Medicine, Soonchunhyang University College of Medicine, Korea. cecilia@schbc.ac.kr


Before the completion of the Human Genome Project (HGP), the genetics tended to be reserved only to the experts in research fields. Now genetic information has become a matter of grave concern to consumers. Among other changes, genetic testing has increased our ability to understand and treat disease; it is increasing our understanding of the causes of diseases and is creating new challenges in relation to the delivery of health care. Consumers and health-care professionals have raised issues about the current status of the implementation and oversight of genetic testing, including the need to provide a line of evidence to establish the efficacy and cost-effectiveness before the tests become commercialized. In addition, as consumers' interests in and demand for new genomic technologies continue to rise, the need for timely and reliable information becomes increasingly crucial. The application of the principles of evidence-based medicine (EBM) seems to be difficult in clinical genetic testing for health-care providers, although practically relevant. This is because the demand for rapid advances in the diagnosis and treatment of disease is often at odds with the slow evolution of sound evidence. However, genetic information is inherently unique in that it runs through generations, can be predictive of future disease, can be used to stigmatize and discriminate individuals, and has potential psychological impacts. This is why genetic information deserves special considerations and should be dealt with differently from other medical information.


Genetic testing; Evidence-based medicine; Genetic testing implementation; Genetic information
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