or cleared for marketing by FDA. When genetic test devices are used investigationally for clinical purposes, manufacturers—including commercial or academically based laboratories preparing their own devices—should apply for FDA approval of an investigational device exemption, including an IRB approved protocol, and periodic reports on the results of their investigations.
To speed the widespread availability of investigational devices of limited marketability, FDA should grant provisional premarket approval, as described earlier, when adequate preliminary evidence of safety and effectiveness has been collected. In addition, the NIH and private funding agencies should support meritorious studies designed to assess the safety and effectiveness of investigational genetic testing devices. To speed the collection of data on tests of limited marketability, national collaborative studies should be encouraged. Funding agencies should also support long-term studies on safety and effectiveness of genetic test devices (through the phase of provisional premarket approval) for diseases in which a long lag will occur between the time of the test and the clinical appearance of the disease.
The committee recommends that all genetic tests should either be designated as investigational devices—subject to IRB approval and FDA regulation—or be submitted to the FDA for premarket approval. FDA should clarify that when an approved IDE is obtained for a test for which no independent confirmatory test is available, the results may be given to the patient's health care provider or to the patient. When a device with an approved IDE is used to provide clinical information, the laboratory performing the test should be allowed to charge for the costs of testing, record keeping, and complying with reporting requirements. Because the investigational phase of new genetic tests may be prolonged, the laboratories performing these tests should be subject to external quality assessment. The committee recommends that HCFA inform every organization (e.g., academic health center or other hospital) that all laboratories in which investigational devices are being used for genetic testing are covered by CLIA88 and must register with HCFA to obtain CLIA88 certificates and be inspected.
The FDA has taken important first steps to increase the pool of advisors expert in genetics by inviting applications for service as FDA advisors ("special government employees") under its Clinical Chemistry and Toxicology Devices Panel of Experts. The agency should also consider developing workshops on critical aspects of genetic testing technology for manufacturers and clinical laboratories.
The committee is concerned that screening tests may become routine standard of care without adequate studies of their safety, effectiveness, or clinical utility. To ensure that adequate studies are conducted, the committee recommends that any new screening test should comply with FDA rules regarding investigational devices, including a protocol reviewed by an IRB. The committee recommends that the decision to move from "pilot" or "investigational" use to rou-