Noninvasive Prenatal Testing Advisory Committee
A Project of the Hastings Center
The goal of this project is to create, implement, and sustain a non-governmental national advisory committee to provide continual high quality guidance and recommendations to pregnant women, health care professionals, clinical laboratories, public and private insurers, and the public concerning the rapidly evolving field of noninvasive prenatal testing.
There are approximately 5 million pregnancies in the United States each year. Currently, a substantial proportion of these pregnant women are offered a simple blood test as early as 10 weeks of pregnancy from which small fragments of fetal and placental cell-free DNA are extracted to examine the developing fetus for a range of genetic conditions. These tests can predict with reasonable accuracy, sensitivity, and specificity fetal aneuploidy (abnormalities in the number of chromosomes) including such conditions as Trisomy 21, Trisomy 13, Trisomy 18, and abnormalities in sex chromosome number. In addition, some single gene disorders and some significant genetic micro-deletions (e.g. 22.q.11) can be detected. In the near future, it is likely that these techniques will be expanded to permit testing of the fetus for hundreds of single gene disorders and even whole genome or exome analysis early in pregnancy. This is very exciting and important science, but currently, the technology is being developed by a small group of entrepreneurial laboratories primarily concerned with market share rather than the interests of patients, clinicians, and the healthcare system. With this in mind, there is significant concern that pregnant women and their partners will be faced with difficult decisions about whether to consent to noninvasive prenatal testing and if they agree to be tested they could receive a tremendous amount of genetic information of unknown significance that could have profound implications for the care of pregnant women and future children.
With rapidly changing science and the potential for expansion of noninvasive prenatal testing there is a clear need to have continual and credible advice to influence future developments in this field. Such advice has often been available to professionals, the government and the public through a Federal Advisory Committee created by the U.S. Congress or by the Executive Branch through the Department of Health and Human Services. But because of the nature of the information generated and the impact on reproductive choices resulting from learning about fetal genetic potential, it is highly unlikely that the government will create a Federal Advisory Committee to address this complex issue.
Over the past several years, the Hastings Center, a not-for-profit, independent, non-partisan, academic institution that has a long history of studying complex ethical issues in medicine has been studying the significant implications of noninvasive prenatal testing. Hastings has concluded that there is a serious need for a Noninvasive Prenatal Testing Advisory Committee as an important national resource. This Committee will bring together experts representing all of the relevant clinical and scientific organizations, the private laboratories, and other stakeholders to make clear recommendations about the informed consent process for pregnant women, the types of tests that ought to be offered, and the necessary post–test counseling. This process is likely to result in more thoughtful and reasonable translation of this new science into medical practice.
To implement this Advisory Committee, the Hastings Center has partnered with the most relevant national professional organizations including the American College of Obstetricians and Gynecologists, American College of Medical Genetics, American Academy of Pediatrics, National Society of Genetic Counselors, and the Genetic Alliance, to develop a nongovernmental national Advisory Committee. These organizations are committed to assuring that pregnant women will receive accurate and meaningful information to assist in their making informed reproductive choices. This effort seeks credibility by utilizing the standards of a Federal Advisory Committee based on the rules promulgated by the U.S. Federal Advisory Committee Act (1972), to assure public engagement, private sector involvement, and complete transparency, while minimizing conflicts of interest. The Committee hopes to develop an impeccable reputation by creating an evidence-based, normatively informed process for making judgments about how to implement non-invasive prenatal testing in the United States. The Hastings Center, with representatives from ACOG, ACMG, AAP, NSGC, and GA have been meeting for a year to develop this idea.