How should costs and cost-effectiveness be considered in prenatal genetic testing?

Abstract

In January 2017, a group of experts in prenatal genetics attended a workshop at the Society of Maternal-Fetal Medicine meeting to review the evidence behind the costs and cost-effectiveness of prenatal genetic testing. Over the past decade, prenatal genetic testing options have dramatically expanded to include additional options with cell-free DNA (cfDNA) screening, as well as increased diagnostic abilities through chromosomal microarray analysis (CMA), gene panels, whole exome sequencing, and other tests. With these expanding technologies, it is important to consider the options available as well as the cost effectiveness of their use. Other important considerations are the effects of movements toward value-based health care; the role of professional societies, commercial laboratories, and insurers; disparities that exist in prenatal genetic testing; and outcomes for both patients and health care systems. Workshop participants identified key areas of research to advance our understanding of the costs and cost-effectiveness of prenatal genetic testing, which include (1) understanding the short- and long-term costs to patients and to health care systems with prenatal genetic tests; (2) elucidating the short- and long-term health outcomes for parents and children that are important to consider when comparing one testing strategy to another; (3) understanding the value underlying prenatal genetic testing to individuals and health care systems; and (4) identifying disparities in prenatal genetic testing, reasons for these disparities, and how to minimize them.