NIPT Requires Greater Oversight and Regulation, According to NDC Report

In a new report, the National Council on Disability (NDC), an independent US government agency charged with advising policymakers, examined the effects of genetic testing on disabled communities and analyzed the various factors that influence prenatal genetic testing. The report, entitled Genetic Testing and the Rush to Perfection, calls for greater regulation of genetic testing, with a particular emphasis on noninvasive prenatal testing (NIPT).

The report analyzed the game changing effects that NIPT has had on genetic testing and analysis, with its virtually risk-free blood draw and the early stage at which it can be implemented. As the testing can be done at nine weeks into a pregnancy, NIPT has a high rate of accuracy and few false positives, such as when determining whether a fetus has Downs syndrome.

NIPT falls under the category of lab developed tests (LDTs), which are generally established and patented by a sole lab that also develops a market for the test/product and runs the test. As the report stated, although the FDA has full authority to regulate LDTs, it has generally exercised “enforcement discretion” and not applied new regulatory requirements. Because of this, the Centers for Medicare and Medicaid Services (CMS) provides oversight of labs and LDTs, as per the Clinical Laboratory Improvement Amendments (CLIA) program.

The report differentiates analytical validity from clinical validity. Analytical validity “questions whether a test consistently and accurately measures what it is supposed to detect,” whereas clinical validity “questions whether the measured change results in an increased risk or likelihood of having an identifiable medical condition.” The reports notes that CMS tends to solely examine analytical validity of LDTs, and even then, usually in the context of a single lab. Because of the FDA’s lack of oversight of LDTs, under which the FDA could require clinical validity, it is difficult to determine a direct scientific or statistical link between genetic testing and healthy pregnancies.

Report Recommendations

The NDC report’s recommendations addressed these issues, not only for genetic testing researchers, but also for entities such as the US Congress, professional organizations engaged in genetic counseling, state legislatures and the Department of Health and Human Services (DHHS). For Congress, the NDC recommended the enforcement of “sunshine laws” and conflict of interest provisions, which would make it necessary for pharmaceutical companies and any other relevant medical treatment or device companies to reveal the relationship they have with prescribing health care providers. Moreover, the report recommended funding of the Prenatally and Postnatally Diagnosed Conditions Awareness Act, which is designed to assist women whose fetus or baby has received a Downs syndrome diagnosis.

The NDC tasked genetic researchers with developing improved ways to obtain better data for determining the relationship between prenatal testing results and multiple factors associated with genetic testing, including counseling, cultural background, and societal expectations and determinants for health in specific disability communities.

Along with developing relationships with disability advocacy organizations and encouraging advocates from disability communities to attend biomedical conferences, the NDC recommended that the DHHS work with the FDA to terminate “enforcement discretion” and begin regulating LDTs, particularly NIPT. This way, a standard can be developed to assess the accuracy of claims made by organizations that handle prenatal genetic testing. Additionally, the FTC (Federal Trade Commission) is recommended to conduct oversight of  marketing by the genetic testing organizations, as more tests with “questionable clinical validity” are coming into the market.