Overhaul Essential for Genetic and Advanced Diagnostic Testing Regulations

A reasonable and responsible regulatory framework must be created for genetic tests and other advanced medical diagnostics according to a diverse coalition of more than a hundred organizations representing genetic testing laboratories, patient advocates, investors, and health policy researchers.

In a letter to the new U.S. Secretary of Health and Human Services (HHS; Washington DC, USA), Kathleen Sebelius, the group noted that while accurate, reliable, and timely genetic testing offers enormous promise to help shape the healthcare system meet the challenges of the 21st century, "poor quality testing can harm patients and waste scarce resources."

Physicians already are using genetic tests--currently available clinically for some 1,500 diseases or conditions--to diagnose disease, to predict an individual patient's risk of future disease, and to guide decision making about further diagnostic procedures and choices among therapeutic options. "Advanced diagnostic testing is becoming the standard of care for many diseases," the group told Ms. Sebelius.

The letter to Secretary Sebelius outlines three goals that should be adopted in crafting a framework of genetic testing oversight: All advanced diagnostic tests--including both test kits and genetic tests developed in-house by the laboratory, which currently are subject to different levels of regulatory scrutiny under U.S. Food and Drug Administration (FDA; Rockville, MD, USA) policies--should be regulated using consistent risk-based standards recognizing the unique aspects of each. Scientific capabilities at HHS and FDA may need to be enhanced and strengthened to accomplish this.

A publicly accessible registry should be established that includes the name of the laboratory performing a specific test, the name of the laboratory or company that developed the test, and information to support claims about the how useful the test is in obtaining the correct results and improving clinical care.

Oversight of clinical laboratory quality, currently tasked to the Centers for Medicare and Medicaid Services (CMS), should be strengthened to make sure that the information provided by genetic and other advanced diagnostic tests is accurate, effective, and timely. FDA and CMS need to review their respective oversight roles to avoid unnecessary duplication, the letter advises.

Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins University (Baltimore, MD; USA), which has signed the document said, "Many of us are more accustomed to being on opposite sides of the table when it comes to regulating genetic testing. The level of consensus here truly represents a watershed moment in laying this critical foundation for personalized medicine."

Sharon Terry is the CEO of the Genetic Alliance (Washington DC, USA) and a board member of the Coalition for 21st Century Medicine, both of which signed the document. She commented, "The importance of this issue to patients is clear from the large number of patient advocacy groups who signed onto this letter."

Related Links:
Full text of the letter
Health and Human Services
U.S. Food and Drug Administration
Centers for Medicare and Medicaid Services
Genetics and Public Policy Center
Genetic Alliance
Coalition for 21st Century Medicine