Centers for Disease Control and Prevention
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Office of Genomics and Disease Prevention  
Office of Genomics and Disease Prevention


Genetic Testing


Over the past decade, the discovery of new genes and the rapid commercialization of genetic technology have led to the development of new genetic tests that permit the identification of affected people and those at risk for developing disease in the future.  The completion of the Human Genome Project and its associated studies will accelerate the pace of gene discovery even further and will lead to the development of genetic tests with even broader applications, such as assessing individual genetic response to pharmacologic agents. 

In a recent paper “The public health impact of genetic tests at the end of the 20th century,” by Yoon et al., the authors concluded that currently, the majority of genetic tests are used in diagnosis and/or genetic counseling for rare, single-gene disorders in a limited number of people. Very few genetic tests are being used to diagnose or predict common complex diseases like cancer or cardiovascular disease.  However, as more genetic tests are considered for newborn screening, and associations between genes, the environment, and common diseases are discovered, the number of people for whom testing is indicated will certainly increase.  

The proliferation of genetic tests creates a need for effective methods of distinguishing tests that promote health and prevent disease from those that have limited benefit or may even pose harm to the public.  In response to this and other issues, the Centers for Disease Control and Prevention has initiated activities to make information about genetic tests more available to medical professionals and the public, establish standard methods for collecting data to evaluate genetic tests, such as the ACCE Project, and monitor the impact of genetic testing on individuals, families, and society.   
Last Updated October 05, 2004