|
My name is Vivian Weinblatt, president of the National Society of Genetic Counselors. I am pleased to speak on behalf of the NSGC, the leading voice, authority and advocate of the genetic counseling profession. The NSGC is comprised of nearly 2000 genetics health care providers, the vast majority of whom are masters-level trained professionals providing direct clinical services to patients. We commend the SACGT on its accomplishments to date, and appreciate the opportunity to continue to comment on the committee's activities.
The current draft of the test classification methodology clearly demonstrates the benefits of the collaboration between the SACGT, FDA, professional societies, both corporate and academic biotechnology and testing centers, and concerned consumers. The methodology addresses critical issues that must be evaluated in order for a new test to be transferred into the clinical testing menu.
We are pleased to see that "purpose of the test" has been incorporated into the "Generic Genetic Test Review Template". It remains unclear in the fragile X example, however, how a particular laboratory would complete the template when multiple uses of testing are intended. For example, for the laboratory in question, would they only be approved to perform testing on probands, or might they accept samples for prenatal or carrier screening as well. Clarification of this issue is reasonable in light of the fact that most laboratories are likely to accept multiple different types of tissues for analysis of the same mutations.
We additionally support the requirement of a description of the "clinical utility of the test". We believe clinical utility to be as important as analytical validity when evaluating the appropriateness of a particular test. If clinical utility cannot be demonstrated, we suggest the test might best remain in the research laboratories for further study.
With regard to the clinical validity of a test, the issues of sensitivity, specificity, positive and negative predictive value are discussed in section 9 of the template. We suggest that these issues be specifically addressed in the submitted examples of test results (#6) as well. Laboratories should be required to discuss the meaning of a test result in unambiguous language in order to support the correct interpretation of the information by the health care provider ordering the test.
|
