A recent issue of the Centers for Disease Control and Prevention's Morbidity and Mortality Weekly Report: Recommendations and Reports, included suggestions for how to maintain good laboratory procedures in genetic testing laboratories. GT's Ciara Curtin spoke with Nancy Anderson, the chief of laboratory practice standards, and Ira Lubin, a geneticist, both of the CDC's Division of Laboratory Systems, about why the guidelines were developed, the growth of genetic testing, and a lab's responsibilities to its users. What follows are excerpts of their conversation.
Genome Technology: Why were these recommendations developed?
Nancy Anderson: The CLIA regulations don't have a specialty for genetic testing. There have been conversations among the agencies that have responsibility for CLIA — as well as the Clinical Laboratory Improvement Advisory Committee, the CLIAC — on different aspects related to ensuring quality in genetic testing going back for 10 years or more. Since CLIA has general requirements that cover genetic testing but nothing specific to any type of genetic testing, it was recommended that the CLIAC convene a work group and make recommendations to the Department of Health and Human Services as to where the CLIA regulations are appropriate for this testing or where there might need to be some additional recommendations to address the good lab practices in genetics. A work group was convened last summer in 2008, and when CLIAC made the official recommendations they considered the work group's input and tweaked a few things. [They] then made their official recommendations, which became part of this report.
GT: Do most labs follow similar guidelines? Have there been problems with test quality?
Ira Lubin: Although data is incomplete, we believe most laboratories offering genetic tests do adhere to the recommendations contained within this MMWR. There is evidence that in other areas of laboratory medicine, there have been errors that can be addressed through adherence to guidelines such as the MMWR. One of the concerns and one of the reasons for developing this is that genetics is [a] rapidly growing area of laboratory medicine with the expectation that there will be additional laboratories, additional services offering genetic testing in the near future.
GT: How do these recommendations differ from other guidelines?
IL: This guideline is based upon a culmination of a review of previous guidelines that have been published and agreed upon together with expert input from the practice community. In terms of genetics, there are certain issues — although not unique to genetics, one might say that they are perhaps more emphasized when this type of testing is performed. For instance, when one does DNA analysis by way of a genetic test, the result may remain with the person for the rest of their life. If the test result is correct, you would not expect that result to change because for the most part, your DNA sequence will not be expected to change over time. That makes all that more important to have correct. Also as a consequence of that, there are implications for other family members.
GT: How long should test reports be kept?
IL: [Twenty-five years] was consensus among experts based on a number of factors. One is what state regulations may require, and state regulations are very variable in terms of what are required in terms of keeping the report. The other is that genetic testing sometimes is indicated for very young children and ... you want those reports to be available at least until they reach the age of majority. The other reason is that even though your DNA test results are not expected to change, one's understanding of those results may change over time as new data is collected regarding a particular mutation, and there may be new findings relevant to what that particular mutation means toward a disease or the future of that disease.