CAP calls for increased FDA oversight of laboratory developed and 'direct-to-consumer' tests

College of American Pathologists Outlines Recommendations at Food and Drug Administration Meeting

With the increasing importance of laboratory tests in diagnosing and treating disease, representatives of the College of American Pathologists (CAP) today presented recommendations to the Food and Drug Administration (FDA) urging increased oversight of laboratory developed tests (LDTs) and "direct-to-consumer" tests. Most genetic tests fall into one or both of these testing categories.

"As physicians responsible for ensuring laboratory quality and rendering diagnoses based on laboratory tests, the CAP believes there is a need for FDA to increase its oversight of certain laboratory developed tests, including high-risk and direct-to-consumer tests," said Gail Habegger Vance, MD, professor of Medical and Molecular Genetics at the Indiana University School of Medicine (IUSM) in Indianapolis and a member of the CAP Board of Governors.  

Since the implementation of the 1976 Medical Device Amendments, the FDA has generally not used its oversight authority to enforce applicable regulations with respect to LDTs.  The FDA convened today's meeting to hear testimony about key issues that it will consider as it develops new regulations that would apply risk-based oversight of LDTs.

Late last year, the College introduced its own model for increased oversight of LDTs, and shared it with the FDA at that time. The CAP's proposed model for increased oversight of LDTs is featured on the College's Advocacy site.

In regards to the FDA panel on "direct-to-consumer" or DTC testing,  Paul N. Valenstein, MD, CAP governor and president of Pathology and Laboratory Management Associates in Ann Arbor, Mich., presented on behalf of the CAP. Patients deserve to be gatekeepers of their health information, but they also may need a medical professional to interpret the test results and recommend next steps, according to Valenstein.

"DTC testing is clinical laboratory testing and should be subject to appropriate safeguards," he added.  "We need to protect patients from deceptive or unscrupulous marketing or promotion of DTC testing.  This also includes relevant protections under the Health Insurance Portability and Accountability Act (HIPAA) and relevant state privacy laws."

DTC tests have recently come under scrutiny as several companies are poised to sell genetic test kits to consumers through pharmacies, without requiring the consultation of an ordering physician. Valenstein highlighted a number of areas where problems can arise when tests are administered by lay people outside a medical laboratory. These include ensuring the competency of testing personnel, software and document controls, and other good laboratory practices required to produce accurate results.

CAP's Proposed Model for LDT Oversight

Addressing the larger issue of LDTs, Vance noted that LDTs reside in a grey area between the FDA's regulation of test manufacturers and the Center for Medicare and Medicaid Services' (CMS) regulation of clinical laboratories under CLIA.  She then presented the CAP's proposed three-tier, risked-based classification system, announced in September 2009, to address how LDTs could be regulated.  

Under the CAP recommendations, tests are classified in the following manner and with the corresponding FDA oversight:

• Low Risk:  The consequence of an incorrect result or incorrect interpretation is unlikely to lead to serious morbidity/mortality.  The laboratory performs analytical validation and determines adequacy of clinical validation prior to offering clinical testing.  The accreditor during the normally scheduled inspections verifies that the laboratory performed appropriate validation studies.
• Moderate Risk:  The consequence of an incorrect result or incorrect interpretation may lead to serious morbidity/mortality and the test methodology is well understood and independently verifiable.  The laboratory must submit validation studies to the CMS-deemed accreditor for review and the accreditor must make a determination that there is adequate evidence of analytical and clinical validity before the laboratory may offer the test clinically.
• High Risk: The consequence of incorrect result or incorrect interpretation could lead to serious morbidity/mortality is not well understood or is not independently verifiable.  The laboratory must submit the test to the FDA for review prior to offering the test clinically.  CMS and the accreditor must determine compliance.

"The CAP believes the FDA should adopt a classification system that will preserve safety while allowing ongoing innovation," said Vance.  "We believe this system, which would establish standards for classifying LDTs as low, moderate and high risk, will result in clear standards that laboratories can execute independently."

Vance thanked the FDA for hosting a public forum where these issues could be addressed, and urged FDA to continue to follow the standard rulemaking process in developing new oversight guidelines.