Ethical Issues Related to Research Uses of Residual Dried Bloodspots from Newborn Screening
Creators: name: Cakici, Julie
name: Brown, Julia
name: Goldenberg, Aaron
Publisher: name: Center for ELSI Resources and Analysis
Year: 2022
Subjects: subject: Genetics
subject: FOS: Biological sciences
subject: Ethics
subject: Science
subject: ELSI
subject: DBS
subject: newborn screening
subject: secondary research
subject: biobank

description: 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 instance, what, if any, benefit does this research have for ‘the public’ (contested insofar as who is included in this public) and whether specific research uses fall within the domain of public health. There are concerns about group harms if demographic information is included with the DNA sample, such as the potential for stigmatization or culturally inappropriate research. The question of whether DBS should be able to be utilized by the criminal justice system is another example of ethical and legal issues related to the storage and use of DBS. Furthermore, the appropriateness of research without consent is a heated issue, especially given the re-identifiability of individuals who provided DBS. As a result, there is a desire for shared decision-making and/or changes to the governance of the research uses of DBS. There is also a need for more transparency about their value for specific research uses, such as their potential to contribute to research on health disparities and rare diseases. While DBS from infants across all demographic and geographic segments are a valuable research resource, their storage and use has attracted public criticism. Much of the controversy stems from the Revised Common Rule, which classifies DBS as not containing identifiable information. This enables research with DBS to be classified as non-human subjects research, which does not require consent. Lawsuits in Texas and Minnesota denied the states’ claims to have a right to biobank samples for research without consent. The courts’ orders to destroy archived DBS were met with reluctance, in part due to the scientific value of DBS, which offer a rare, population-wide dataset for genetic research. Ultimately, Texas was forced to destroy 5.3 million samples and required to obtain consent for research use of DBS thereafter. Despite these legal cases, many states continue not to offer consent for research use of DBS. California is one such state and its collection of DBS exceeds 20 million samples. Furthermore, empirical evidence suggests that most families and legal scholars believe a minimum opt-in consent at the time of sample collection is needed for research-related biobanking. However, states have been reluctant to implement consent during the newborn screening process for a wide variety of reasons, not the least of which is the cost associated with a statewide procedural change. It has also been shown that implementing consent for research use of DBS into the newborn screening process does not necessarily resolve all public concerns. For example, Michigan implemented a broad consent for public health-related research, but the state is facing a lawsuit about whether its broad consent is sufficient for unspecified research uses. Michigan agreed to destroy 3.4 million samples in a partial settlement. However, this lawsuit also raises concerns that the Revised Common Rule’s definition and use of broad consent will be undermined. While the future of research using DBS may rest with the courts, it is imperative that ELSI scholars engage with these high-stakes cases as they cut across debates about biobanking, clinical-research systems, public health inclusion, and respect for parental autonomy.