TRENDS & PERSPECTIVES

The Department of Health and Human Services’ Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS) is finalizing its report on regulatory oversight of genetic tests. Last year, HHS secretary Michael Levitt commissioned SACGHS to draft a report that examines various gaps in genetic test oversight.

At a meeting in February, SACGHS discussed its latest draft report containing numerous recommendations for improving regulation of genetic tests. Such recommendations include the following:

• HHS should work with relevant stakeholders to identify and address deficiencies in genetic knowledge and education of three key groups: healthcare practitioners, public health workers, and consumers. Educational efforts should take into account issues of medical literacy, access to electronic information, and deficiencies in public infrastructure. Research and surveillance on knowledge of analytical validity, clinical validity, and clinical utility can inform the development of evidence-based clinical practice guidelines.
  
  
• HHS should allocate resources to the Agency for Healthcare Research and Quality (AHRQ; Rockville, MD), CDC (Atlanta), Health Resources and Services Administration (HRSA; Rockville, MD), and NIH (Bethesda, MD) for research and development of clinical decision support tools and resources. HHS should also engage providers and payers in education efforts, and provide incentives for protections in order to ensure participation in the design, dissemination, and implementation of clinical decision support.
  
  
• HHS should set up efforts to assess implications of direct-to-consumer (DTC) advertising and testing, and the implementation of strategies to protect consumers. HHS should also explore social stigmatization, privacy concerns, and the potential negative impact of DTC testing.
  
  
• Public and private healthcare payers should develop mechanisms, such as coverage with evidence development or phased reimbursement, to facilitate the collection of clinical utility evidence for high-priority tests and applications.
  
  
• HHS should advance the appropriate use of interoperable patient-level data for research and enhance the quality of decision making. HHS should also implement efforts to advance the use of such inter­operable patient-level data.
  
  
• Funding should be assured for the development of reference materials, methods, and samples for assay validation, quality control, and performance assessment, along with other steps to address gaps in analytical and clinical validity data.
  
  
• HHS should convene relevant stakeholders to provide further input on an FDA risk-based regulatory framework for laboratory-developed tests (LDTs) and consider models for assessing LDTs that will not be subject to FDA review. This effort should consider intended uses of LDTs and the likelihood of harm to patients or consumers if test results are inaccurate, susceptible to misinterpretation, or if the test is misapplied or extended beyond the proposed intended use. FDA should also offer alternative assessment models for infrequently performed LDTs.

Some industry analysts agree with SACGHS’s recommendation that FDA should be involved in regulating laboratory-developed genetic tests.

“FDA should handle all tests using the same system,” says Glen P. Freiberg, president, RCQ Consulting (San Diego). “The bottom line is that there should be a level playing field and that patient expectations of quality and analytic accuracy should be uniform. This means that FDA needs to scale up the review on laboratory-developed tests and their manufacturing, and scale down the review on industry-supplied diagnostic kits.”

However, other analysts disagree with this recommendation and believe that having FDA oversee all genetic tests would burden the agency.

“As more kits of greater complexity are submitted to FDA, the drain on its resources will grow,” says Jeffrey N. Gibbs, JD, director, Hyman, Phelps & McNamara (Washington, DC). Having FDA oversee all genetic tests would also likely have a negative effect on innovation, due to increased costs and regulatory uncertainty. If there is going to be increased oversight for genetic tests, a different regulatory model is needed.”

“FDA has no business regulating clinical laboratories, as its regulations are structured to interface with traditional IVD companies that manu­facture devices,” says Thomas M. Tsakeris, president, Devices and Diagnostics Consulting Group Inc. (Rockville, MD). “However, I fear that the HHS agencies, in particular FDA, may be compelled to act impulsively as a consequence of a high-profile incident related to a genetic testing error that captures wide media attention.”

Additional information about SACGHS can be accessed via its Web site at www4.od.nih.gov/oba/sacghs.htm.