Ethical issues related to research uses of residual dried bloodspots from newborn screening
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. There are numerous secondary uses for DBS, such as clinical test development for early-onset genetic disease, quality improvement of newborn screening, forensics, the study of environment exposures and their effects on health, and population-based research to identify genetic markers for disease. Scientists are now able to extract and sequence DNA from DBS many years after the sample was collected, which makes DBS biobanks particularly useful for genetic and genomic research purposes.
Some uses of DBS hold clear potential benefit for citizens. More controversial is the use of DBS by researchers for a wider array of studies. Secondary research uses of DBS invoke a number of ethical themes. For…
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