Creating a Genetic Testing Specialty Under CLIA
What Are We Waiting For?

A review of the comments submitted in response to the NOI reveals that there was substantial support for the creation of a genetic testing specialty under CLIA in order to address the unique issues and complexities raised by genetic tests.  Combining the support of the laboratories with the fact that a majority of the American public supports government regulation to ensure the safety and accuracy of genetic test results25 only underscores the urgent need to revisit the issue of regulating genetic testing.  Five years after the NOI was published, a genetic specialty has still not been created under CLIA.  To of the comments to the NOI indicate that the creation of a genetic testing specialty is achievable if the requirements focus on  the key components needed to ensure quality.  Key components include criteria for establishing analytic and clinical validity and requirements for proficiency testing.  The more contentious issues, such as additional requirements for consent, confidentiality, and genetic counseling, should be set aside for the moment in the interest of ensuring that genetic tests are safe and accurate and provide information relevant to health care decision making.  These additional requirements arguably would be beyond the appropriate role of clinical diagnostic laboratories and may well be better addressed through other means. When the responses are stripped of these issues, the comments suggest that any regulation must (1) clearly define “genetic testing” and include three subcategories: molecular, cytogenetic, and biochemical testing; (2) specify the tests exempt from the new CLIA regulations; (3) clearly outline if and when a test is considered “genetic”; and (4) provide clear guidance regarding the definition of clinical validity and the scope of the laboratory director’s duty to document it.  

Federal regulation of genetic testing is widely supported and desperately needed to ensure the safety, accuracy, and reliability of genetic tests.  Although many members of the public believe that the government already regulates the accuracy and reliability of genetic tests and, moreover, support this oversight role, there are serious gaps in the government’s oversight of genetic testing. Adequate oversight of the laboratories performing genetic tests is a key component of ensuring quality. Such oversight requires that the government take immediate steps to implement the long-promised regulations to establish a genetic testing specialty and thereby provide greater assurance that laboratories are providing accurate and reliable genetic tests to consumers.