Goals and Practices for Next Generation Prenatal Testing

Prenatal testing is evolving in two important ways: first, advances in genomic medicine mean that samples of fetal DNA obtained with invasive methods (such as amniocentesis) can be analyzed using microarray analysis or whole genome sequencing, revealing far more information about the fetus's genetic make-up than was previously possible; and second, new, non-invasive prenatal tests have been introduced that isolate fragments of fetal DNA circulating in a pregnant woman's blood, making possible safe, highly accurate genetic testing much earlier in pregnancy than was previously possible. Currently the range of genetic traits that can be picked up by the new non-invasive tests is small. But it is set to expand rapidly as the technology develops, and it may one day soon extend to whole genome analysis allowing detection of the full range of traits, including those associated with increases in risk for disease, adult-onset conditions, and non-disease traits. These two changes mark the beginning of the next-generation of prenatal testing, which has the potential to dramatically alter the experience and care of the 4 million women who give birth in the United States alone each year. Thereby, these remarkable technological developments raise pressing ethical, which this project will address. First, which traits should be tested for, nd how ought testing be conducted? Second, which policies should be altered to support the ethical use of next-generation prenatal tests, and in what ways should these policies be changed? And third, what future empirical research is needed to examine how the ethics recommendations made by this project play out in practice? To address these questions, The Hastings Center has recruited experts and representatives from a wide range of sectors critical to the wise and effective use of next- generation prenatal tests, but who have not yet been brought together. Importantly, leaders from the major relevant clinical societies have agreed to participate because they realize that this project's ethical analysis and recommendations will usefully inform their organizations' future clinical guidelines. The Work Group also includes members conducting empirical research on first and second-generation prenatal testing, and members representing patients. Together, with this Work Group, the Lead Investigators will produce analysis and recommendations for clinicians, researchers, policy makers, opinion leaders and the public. A draft of this analysis and recommendations will be presented to four focus groups of pregnant women and the partners of pregnant women for their feedback. The final analysis and recommendation will be disseminated to relevant stakeholders via scholarly publications, conference presentations, a public meeting, and a project website.