Laboratory-Developed Tests: Public Comments Sought

October 7, 2014

The integration of genomics into medicine is not solely dependent upon research advances - it also depends upon the development and implementation of appropriate policies and laws. For instance, anti-discrimination and privacy laws are important to protect patients from potential harm. Coverage and reimbursement policies are vital to promote patient access to appropriate genomic technologies. Policies fostering the development of electronic health record systems able to capture genomic information are necessary to enable clinical decision support. And there should be appropriate oversight to ensure the accuracy, consistency, and reliability of genomic-based tests that are available to healthcare professionals for clinical care. Recently, the U.S. Food and Drug Administration (FDA) issued draft guidance on the regulation of laboratory-developed tests (LDTs) - tests designed, manufactured, and used within a single laboratory - to address this latter need. While the FDA has always had the authority to regulate such tests, historically, it has not done so. Rather, it has exercised what is called 'enforcement discretion.' 

The FDA announcement comes at a critical transition for genomic medicine. Historically, most genetic/genomic LDTs have been used to identify rare disease-causing mutations, and the risk to a patient of an inaccurate or misinterpreted result was relatively low. Recent advances in technology have led to the use of more and more complex genomic tests for guiding clinical decisions, such as what drug to use to treat cancer. While we celebrate these clinical advances, it is important to ensure the quality and validity of the genomic tests for the sake of patient safety. 

The idea of FDA regulation of LDTs is not new. In 2000 and in 2008, advisory committees to the Secretary of the Department of Health and Human Services recommended that FDA oversight should address all genetic/genomic laboratory tests. In 2010, the FDA announced that it was reviewing the issue and planned to regulate LDTs. 

The goal of FDA's proposed oversight is to verify independently that LDTs being used clinically are safe and effective for patient care. Significantly, the draft guidance states that FDA intends to phase in LDT oversight over a number of years based on the risk associated with each test. Since the agency plans to prioritize their oversight, it will continue to practice 'enforcement discretion' for tests deemed to be lower risk, for seldom-performed tests for rare diseases, and for those fulfilling an unmet need. 

The proposed guidance would bring oversight of LDTs into alignment with the oversight of those tests marketed and distributed as kits, which also follows a risk-based system. This would bring the same standard to both types of tests. This consistency in regulation is expected to benefit those wishing to commercialize a genetic/genomic test by removing the uncertainty in the current regulatory landscape. The FDA also expects that establishing strong and clear test standards will benefit patients by improving consistency and reliability in testing. 

NHGRI supports the efforts of our sister agency to address this important issue for genomic medicine. Ultimately, the success of our collective efforts to improve health through genomics will be dependent upon finding the right balance in regulating genetic/genomic tests to ensure accuracy and clinical relevance while promoting innovation. I encourage you to review the draft guidance during the public comment period and to share your thoughts with the FDA on how it could be improved. For further details, visit 

Posted: November 4, 2014

Last updated: November 04, 2014