external quality assessment. Laboratories in academic health centers and elsewhere that conduct research, but that also perform genetic tests as a service (providing the results to referring laboratories or physicians, or directly to patients), fall under the purview of CLIA88 and should be subject to the same criteria, standards, and regulation as commercial genetic testing laboratories.
The committee is concerned that tests for newborns and other types of screening may be offered to the public before their safety, effectiveness, and clinical utility have been adequately assessed. To remedy this, the manufacturer or user of a device for a new screening test (including state laboratories or health departments) should comply with the FDA's regulations for Investigational Device Exemptions (IDE). For example, the investigational or "pilot" phase of screening should be conducted under a protocol approved by an institutional review board (IRB), and the pilot phase should be evaluated by an entity independent of the organization conducting the pilot study.
Compliance with FDA requirements is essential to ensuring safe and effective use of genetic tests, just as compliance with CLIA88 is essential for any laboratory performing genetic tests for clinical purposes. All genetic tests should either be designated as investigational devices—subject to IRB approval and FDA regulation—or be submitted to the FDA for full premarket approval. An Advisory Panel on Genetic Test Devices to the FDA should be established to ensure appropriate expert review for genetic testing products. Genetic diagnostic devices should be classified for full premarket approval by FDA (Class III), and the FDA should develop guidance to manufacturers for preparing premarket applications for genetic test devices (see Chapter 3).
DNA probes and other reagents that are essential to the performance of genetic tests are medical devices under current FDA law and regulation. Consequently, whenever probes and reagents are used for clinical purposes, they must either be labeled "for investigational use only" (and must comply with FDA requirements for investigational use) or have FDA approval for marketing. 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 IDE, including an IRB approved protocol and periodic reports on the results of their investigations.
Many institutional review boards lack experience in the review of investigational genetic testing protocols. The National Institutes of Health (NIH) Office for Protection from Research Risks has recently issued initial guidance for research involving genetics in its IRB Guidebook. The NIH Office for Protection from Research Risks (OPRR) and the National Center for Human Genome Research (NCHGR) ELSI Program should continue to coordinate efforts to assist IRBs in coping with this responsibility. Other federal agencies and pro-