The last few years have seen calls for more diverse and representative collections of biological samples for population based translational research. This need has sparked increased interest in using residual bloodspots from state newborn screening programs for research purposes, given that these collections contain DNA from all newborns born in a state each year. Nevertheless, because these specimens were collected as part of a mandatory public health program, their use raises a number of ethical, legal, and social challenges involving consent, privacy, and the identifiability of samples.
Newborn screening for metabolic and genetic disease is arguably one of the greatest public health interventions—notwithstanding some ethical challenges and opportunities for improvement—because it reduces harm caused by treatable congenital disorders through early identification and intervention. Following the clinical newborn screening tests, residual, dried bloodspots (DBS) are regularly stored by state health departments, a process that can in some cases constitute biobanking.
