Promoting Safe and Effective Genetic Testing in the United States - Chapter 6

Promoting Safe and Effective Genetic Testing in the United States

Chapter 6

Summary and Conclusions

The Task Force recommends that the Secretary of Health and Human Services appoint an advisory committee on genetic testing to be instrumental in implementing the recommendations of this Task Force. The advisory committee or its designate should establish a system for determining which genetic tests require stringent scrutiny. If a test is likely to be used to predict future disease in healthy people, it is a candidate for stringent scrutiny, but not all predictive tests will necessarily require such scrutiny and other criteria are needed as well.

The Task Force wishes to highlight the following recommendations and to indicate the organizations primarily responsible for facilitating them:

1. Protocols for the development of genetic tests that can be used predictively must receive the approval of an institutional review board (IRB) when subject identifiers are retained and when the intention is to make the test readily available for clinical use. OPRR in cooperation with the proposed Secretary's Advisory Committee is primarily responsible.
   
   
2. Test developers must submit their validation and clinical utility data to external review as well as to interested professional organizations in order to permit informed decisions about routine use. Independent review should take place at both the local level (e.g., academic center or company), and at the national level by professional societies, consensus panels, Federal agencies and other organizations, before new tests become available for noninvestigational clinical use. The proposed Secretary's Advisory Committee should coordinate national efforts.
   
   
3. The Task Force urges the newly created genetics subcommittee of the Clinical Laboratory Improvement Advisory Committee to consider the creation of a specialty of genetics that would encompass all predictive tests that satisfy criteria for stringent scrutiny. If only a subspecialty for DNA/RNA-based tests is feasible, the subcommittee must then address how to ensure the quality of laboratories performing nonDNA/RNA predictive genetic tests. The agencies primarily responsible for administering CLIA, HCFA and CDC, should take the lead in implementing this recommendation.
   
   
4. The Task Force encourages the development of genetics curricula in medical school and residency training. In addition to these basic curricula, each specialty involved with the care of patients with disorders with significant genetic components should design relevant curricula for continuing education in genetics. Schools of nursing, public health, and social work need to strengthen and expand their training programs in genetics. The newly created National Coalition for Health Professional Education in Genetics should greatly facilitate improving professional education in genetics.
   
   
5. Hospitals and managed care organizations should require evidence of competence before permitting providers to order predictive stringent scrutiny genetic tests or to counsel about them. Implementation is at the local level. If accrediting organizations include a review of the management of selected genetic tests as part of their accreditation, there will be greater stimulus for local organizations to ensure quality.
   
   
6. Physicians who encounter patients with symptoms and signs of rare genetic diseases should have access to accurate information that will enable them to include such diseases in their differential diagnosis, to know where to turn for assistance in clinical and laboratory diagnosis, and to locate laboratories that test for rare diseases. The quality of laboratories providing tests for rare diseases must be assured, and a comprehensive system to collect data on rare diseases must be established. The NIH Office of Rare Diseases should play a coordinating role. The genetics subcommittee of CLIAC should examine means of assuring the quality of laboratories performing tests for rare diseases.

These and the many other principles and recommendations of the Task Force presented herein will help ensure that genetic testing will be provided safely and effectively and that tests for rare diseases will be more widely available but used appropriately. The Task Force concludes that with implementation of these recommendations, genetic testing will continue to flourish.

Top of page

---