And Genetic Testing for All....The Coming Revolution in Prenatal Genetic Testing

Abstract

The discovery of cell-free fetal DNA (cffDNA) in maternal blood has the potential to dramatically change the current practice of prenatal diagnosis. Scientists have recently used it to develop reliable genetic tests that offer non-invasive prenatal diagnosis (NIPD) as early as seven weeks gestation. In December 2010, two independent laboratories have demonstrated that a full genome-wide analysis of the fetus could be performed from a sample of maternal blood, making fetal diagnostic testing possible in the future for any known genetic condition. The convergence of cffDNA testing with low cost genomic sequencing will enable prospective parents to have relatively inexpensive access to a wide range of genetic information about their fetus from as early as seven weeks gestation. In addition, by eliminating many of the risks associated with current forms of prenatal diagnosis, NIPD has the potential to be offered to a much higher percentage of pregnant women. While a major medical advance, NIPD also raises significant challenges. Initially, physicians and pregnant women will need guidance on which tests are appropriate for prenatal use, how to determine what tests each woman would like to receive, how to interpret the results, and finally, what options are available after testing. This article examines a range of ethical, legal and social implications associated with introducing NIPD into prenatal practice, and offers a novel solution to assist physicians and patients in making informed choices regarding reproductive genetic testing. Finally, the article poses future questions regarding the long-term societal implications of widespread NIPD use.

Keywords: prenatal genetic testing, genetic selection, reproduction, informed consent, regulation