PI: Mildred Cho, PhD
Other Collaborators: M. Allyse, L. C. Sayres, M. Havard, K. Ormond, J. S. King, H. Greely and D. Magnus
Funders: This work was supported by NIH grant P50 HG003389 (Center for Integrating Ethics and Genetic Research)
Project Objective: To provide clinicians and genetic testing companies with a set of best ethical practices for the integration of noninvasive prenatal genetic testing into clinical practice.
Project Description: The ability to detect fetal characteristics by analyzing cell free fetal DNA circulating in the maternal bloodstream has opened the door to a wide range of non-invasive prenatal tests which have the potential to revolutionize prenatal testing. Because fetal DNA is detectable early in the pregnancy, non-invasive tests using cell-free fetal DNA (cffDNA) allow for testing earlier than current invasive methods and in a manner that is not dependent on gestational age. Most importantly, it does not carry a procedure-related risk to mother or fetus. The commercial provision of these tests has ethical and clinical implications that have yet to be fully explored. Prominent regulatory agencies, such as the US Food and Drug Administration (FDA), have thus far declined to regulate the safety and effectiveness of cffDNA tests and, more generally, genetic tests offered directly to consumers. Although the International Society of Prenatal Diagnosis has introduced preliminary recommendations, 25 larger professional societies, such as the American Congress of Obstetricians and Gynecologists (ACOG), have provided little guidance on how such tests should be integrated into current clinical practice. In the absence of regulation or codes of conduct, the possibility of inadequate integration of new testing procedures into existing screening and diagnostic regimes presents a strong potential for undesirable outcomes, including ill-informed patient decision-making about both undergoing testing and interpreting the results, unjust distribution of services, and increased stigmatization of disability communities. We therefore suggest that clinicians and test providers should cooperate in adopting ethical best practices for the offer of cffDNA testing to pregnant women. We aim to offer a model of what such a code of practice should look like from the perspective of both care providers and the commercial entities that develop and sell non-invasive prenatal tests.