In Search of a Coherent Framework: Options for FDA Oversight of Genetic Tests

Publication Date: January 2007

Publisher: Food and Drug Law Institute (U.S.)

Author(s): Gail H. Javitt

Research Area: Health

Keywords: Genetic testing; Laboratory-developed tests; FDA oversight; In vitro diagnostics

Type: Other

Coverage: United States

Abstract:

Over the past decade, genetic testing has become a mainstream part of medical care. Once used to diagnose rare, single-gene disorders, genetic tests are now
harnessed to predict, diagnose or treat a wide range of diseases including complex conditions such as cancer and Alzheimer disease. Today there are more than 1,400 diseases for which genetic testing is available. Thus, for many conditions, obtaining an accurate and reliable genetic test result is critical for good patient care.

However, the regulatory environment for genetic testing has not evolved as quickly as has the technology itself. Despite the efforts of numerous advisory committees since the 1990s to generate a coherent system of oversight, the safety and effectiveness of most genetic tests today are not assured by the government.

Although a diverse array of stakeholders believes more oversight is needed, there has been a lack of consensus about what that oversight should be and who should provide it.

The Food and Drug Administration (FDA) plays a limited role in regulating genetic tests, but at times the agency has appeared poised to regulate more extensively. Its actions have spurred criticism by some who assert that FDA lacks the jurisdiction to regulate genetic tests and that the agency's involvement will stifle the availability of new tests, and praise by those who believe that FDA involvement will better protect public health.

In 2007, two bills were introduced in Congress that, if enacted, could lead to greater regulation of genetic tests by FDA. Additionally, FDA has recently signaled increased interest in regulating a subset of laboratory developed tests, again raising questions about the adequacy and coherence of the current system of oversight for genetic tests.

Part II of this paper presents a general overview of FDA's regulatory approach to in vitro diagnostic (IVD) devices and laboratory developed tests (LDTs), setting out a framework in which to situate the subsequent analysis of genetic testing oversight. Part III discusses FDA's approach to regulating genetic IVDs and genetic LDTs specifically. Part IV identifies concerns that have arisen as a result of the current regulation of genetic tests and Part V describes previous and current attempts that have been made to address them. Part VI presents options for how FDA could regulate genetic tests in the future.

The article concludes that the current system of oversight does not provide adequate assurance of the safety and effectiveness of genetic tests, unfairly distinguishes between genetic tests based on how a clinical laboratory performs them and creates an unstable regulatory environment for clinical laboratories and device manufacturers that could deter development of new tests.

In Food and Drug Law Journal, v.62:4, 2007, p.617-652.