Newborn Screening Blood Spot Retention and Reuse: A Clash of Public Health and Privacy Interests

Before leaving the hospital, most babies in the United States are screened for multiple genetic, endocrine, and metabolic disorders and conditions. The first part of the screening process consists of a blood test performed by pricking the baby’s heel and collecting a small amount of blood on a filter paper card to create a dried blood spot (DBS). This DBS card is sent to a state public health laboratory to test the newborns for between 28 and 75 conditions, depending on the state.
States typically retain the DBS after confirming the results of initial newborn screenings. Retained DBS can be used for many reasons, including improvement of testing instruments and research to further the ability to test newborns for additional conditions. However, legal challenges have pushed back against various state retention policies and specific uses of the DBS, from secondary research to law enforcement investigations. These challenges have raised privacy considerations that should be factored into state privacy policies.
Public Health Benefits of Newborn Screening, Dried Blood Spot Retention
Newborn screening became possible in 1960s when a National Institutes of Health scientist, Robert Guthrie, MD, PhD, developed a mass screening test for the metabolic disorder phenylketonuria. Sickle cell anemia become detectable through newborn screening in the 1970s. Over the years, as advancements in technology made it possible to detect an increasing number of heritable conditions, states adopted requirements for screening.
Newborn screening is also a vital tool to advance broader public health objectives. Retained DBS play a necessary role in calibrating newborn screening equipment for all newborns. Research using retained DBS can uncover the epidemiology of infectious diseases, population-based exposures to environmental agents, and underlying reasons for birth defects or developmental disabilities. For example, researchers used retained DBS taken from babies born near the Rocky Mountains, where mining sites are common, to determine maternal exposure to lead and mercury. In the 1990s, retained DBS were tested to identify newborns exposed to HIV in utero.
Retained DBS are also used to develop new tests for newborn screening, allowing early detection of a growing number of conditions. If research shows that a new disease can be detected using retained DBS, it may be added to the state’s newborn screening panel so that all newborns in that state will be screened for it and have access to early, lifesaving interventions. For example, studies conducted in Minnesota using retained DBS demonstrate that newborn screening could be used to reliably detect congenital cytomegalovirus (cCMV) in newborns. And earlier intervention for those newborns could help to improve or mitigate hearing, speech, and other neurodevelopmental outcomes. Following research using the DBS, earlier this year, Minnesota became the first state in the country to routinely screen newborns for cCMV.