U.S. System of Oversight of Genetic Testing: A Response to the Charge of the Secretary of HHS

Since the launch of the Human Genome Project, genetic testing has been adopted increasingly into standard practice for diagnosing and managing disease, expanding on its roles in predicting the risk of future disease and informing decisions about life planning and behavior change.

Since the launch of the Human Genome Project, genetic testing has been adopted increasingly into standard practice for diagnosing and managing disease, expanding on its roles in predicting the risk of future disease and informing decisions about life planning and behavior change. Today, genetic tests use combinations of biochemical, cytogenetic, and molecular methods to analyze deoxyribonucleic acid (DNA), ribonucleic acid (RNA), chromosomes, proteins, and selected metabolites. Advances in genetics research are enabling improved prevention, treatment and disease management for common chronic conditions such as cancer, heart disease, and diabetes.

As genetic testing technology is integrated into health care, increasingly detailed information about individual and population genetic variations becomes available to patients and providers. More and more, health professionals are turning to genetic testing to assess the risk of disease in individuals, families, and populations and using this information to guide healthcare decisions. Yet availability of this information requires significant support for efforts to understand its validity, interpretation, and utility in clinical and personal decisionmaking. Scientific and technological advances in genetic testing present certain challenges to existing frameworks for regulation and oversight. It is critical to anticipate and adapt to the impacts of these advances on individual health care and public health.

The significance of the information that can result from genetic tests, their expanded use of genetic testing in clinical practice and public health, and the pace and extent of technological change in the ways testing is performed, have prompted efforts to examine the current systems of oversight and regulation of genetic tests and test results. The Secretary’s Advisory Committee for Genetics, Health, and Society (SACGHS) first identified oversight of genetic tests as a priority area in 2004. After several years of monitoring the issue, SACGHS began a concentrated effort in 2006 to assess the various systems of oversight that play a role in genetic testing. Like SACGT, the Committee’s overarching concern was the adequacy of the oversight system and whether there were gaps in it that could lead to harms in public health. In March 2007, HHS launched the Personalized Health Care (PHC) Initiative to advance the integration of genomic technologies that are capable of tailoring treatment and prevention strategies to each patient’s unique genetic characteristics and individual needs into general health care.