Us System of Oversight for Genetic Testing: A Report from the Secretary‘S Advisory Committee on Genetics, Health and Society

Abstract

As genetic testing technology is integrated into healthcare, increasingly detailed information about individual and population genetic variation is available to patients and providers. Health professionals use genetic testing to diagnose or assess the risk of disease in individuals, families and populations and to guide healthcare decisions. Consumers are beginning to explore personalized genomic services in an effort to learn more about their risk for common diseases. Scientific and technological advances in genetic testing, as with any newly introduced medical technology, present certain challenges to existing frameworks of oversight. In addition, the growing use of genetic testing will require a significant investment in evidence-based assessments to understand the validity and utility of these tests in clinical and personal decisionmaking. To optimize the use of genetic testing in healthcare, all sectors of the oversight system need to be strengthened and yet remain flexible in order to adapt to advances that will inevitably increase the range of genetic tests and methodologies.

Keywords: :

• analytical validity
• CLIA
• clinical decision support
• clinical utility
• clinical validity
• genetic testing
• health communication
• oversight
• proficiency testing
• US FDA

Acknowledgements

The authors would like to thank the members of the SACGHS Oversight Task Force for sharing their knowledge and expertise on issues surrounding the oversight of genetic testing. The authors would also like to recognize the leadership of the former SACGHS Chair, Reed Tuckson, and the SACGHS Executive Secretary, Sarah Carr, for their role in nimbly guiding the development of the oversight report.

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.