Non-invasive prenatal testing and the unveiling of an impaired translation process
Document Type
Article
Department
Office of the Provost
Abstract
Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is an exciting new technology with many potential clinical benefits. However, the commercialization of these tests and the potential economic benefits to the laboratories that perform the testing have led to concern that the limitations are being downplayed and the benefits overstated. This article assesses the translational challenges to the use of NIPT in Canada in the context of commercialization and legal pressures as a means to provide a roadmap for improved policymaking.
Noninvasive prenatal testing was developed in the United States as a commercial screening test following the discovery that trace quantities of placental DNA, which is largely composed of DNA shared by the fetus, are present in the bloodstream of pregnant women. The test primarily screens for common aneuploidies such as trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and the sex chromosome abnormalities. As a screening test, there is no direct risk to the fetus, and while the performance is better than other aneuploidy screening techniques, the test is not diagnostic, and abnormal results need to be confirmed using amniocentesis or chorionic villus sampling. There is concern that the clinical benefits of NIPT have been overstated, and the potential harm minimized, given commercialization and the economic pressures on the laboratories that provide the testing. In part due to an effort to increase market share, the test is now being promoted as a potential first-tier screen that should be offered to all pregnant women despite the costs involved. Several challenges in the translational environment in Canada are discussed, including pressure for first-tier implementation, a government view of the publicly funded research sector as a potential engine of economic growth, and an industrial incentive to maximize market size. While there are benefits to use of NIPT, “routinization” of this test could adversely affect women’s reproductive autonomy. Keeping in mind the various agendas while thoroughly assessing the real benefits of this new technology, policymakers should take steps to provide NIPT with public funds only after gathering strong and relevant evidence of clinical and public health utility.
Publication (Name of Journal)
Obstetrical & Gynecological Survey
DOI
10.1097/01.ogx.0000516409.93494.3d
Recommended Citation
Murdoch, B.,
Ravitsky, V.,
Ogbogu, U.,
Ali-Khan, S.,
Bertier, G.,
Birko, S.,
Bubela, T. M.,
De Beer, J.,
Dupras, C.,
Ellis, M.
(2017). Non-invasive prenatal testing and the unveiling of an impaired translation process. Obstetrical & Gynecological Survey, 72(5), 270-272.
Available at:
https://ecommons.aku.edu/provost_office/751
Comments
This work was published before Tania joined Aga Khan University.