Cell-free fetal DNA and enhanced carrier screening genotype significant quantities of maternal and fetoplacental DNA. Although DNA may be de-identified by removing protected health information from genetic data, anonymized DNA can be reidentified using genetic databases, posing long-term concerns about genetic privacy for both mother and fetus. In this article, researchers look at how prenatal genetic screening has evolved and how contemporary screening approaches may provide unexpected privacy problems. They identify information gaps and suggest measures to increase patient understanding of and control over genetic privacy, including specific recommendations for laboratories and prenatal care practitioners that offer screening.
They also encourage colleagues who offer prenatal care to be fully aware of the privacy implications of the genetic testing they order and to be outspoken advocates for our patients’ genetic privacy, both with the laboratories that perform these tests and in public.