June 2011: Volume 37, Number 6
Who Owns Newborn Screening Samples?
Murky State Laws Threaten to Hinder Research using Residual Blood Spots
By Genna Rollins
For decades, state newborn screening programs across the U.S. have accumulated a treasure trove of genetic information on babies in the form of residual dried blood spots. Now, with new molecular diagnostic techniques, these samples represent a highly valuable source of genetic material for various types of analyses. However, unclear and inadequate state laws and a lack of transparency about the retention of dried blood spots threaten to stifle this type of research, according to experts.
“States have wide variability with regard to laws about the retention and use of residual newborn screening blood samples,” explained Michelle Lewis, MD, JD, research scholar for the Genetics and Public Policy Center at Johns Hopkins University’s Berman Institute of Bioethics. “The laws vary regarding which party—the parent or the state—has authority to determine the disposition of the dried blood spot and the related information, under what circumstances the residual sample can be used and for what purposes, and how much information parents are provided about the retention and use of the samples.” Lewis recently analyzed state laws involving retention and use of newborn screening samples (Pediatrics 2011;127:703–712).
The team’s analysis comes on the heels of landmark suit in 2009 by parents in Minnesota and Texas against the public health departments in those states. The parents charged that their babies’ newborn blood samples had been stored without their knowledge or consent. Texas settled out of court, and as part of the settlement destroyed more than 5 million samples dating back to 2002. Texas also changed its laws to authorize retention of dried blood spots but subsequently faced another lawsuit—still unresolved—after revealing that it had given 800 dried blood spots for use in a forensics database.
These actions come as research interest in residual newborn screening samples is growing, due in part to recent reports of various molecular techniques being successfully applied to dried blood spots. “Even though they’re not ideal from a genomics point-of-view, which stresses fresh, unfixed, unadulterated material, Guthrie cards make good clinical specimens, and are a unique and underutilized resource,” said James Resau, PhD, professor of biospecimen science and director of the pathology laboratory at the Van Andel Research Institute in Grand Rapids, Mich. Resau recently reported detecting about 9,000 expressed genes from Guthrie cards using a commercially available high-throughput RNA microarray (Pathol Int 2011;61:1–6).
He emphasized that state regulations and public information efforts had facilitated efforts like those of his research team. “In Michigan we didn’t just assume that people would believe, understand, and accept that researchers were not going to do any harm,” he explained. “We built consensus within the state that this kind of research is okay to do, and answered concerns that no personal information would be displayed.”
Thoughtful consideration of regulations and public education around the retention and use of residual newborn screening samples is needed in many states, according to Lewis. “It was not surprising that there was a wide variability in how states approach these issues, but I was surprised that there are number of states that have not addressed any of these issues,” she said. “One of the things coming out of our research is we’re encouraging states that want to develop these residual samples as research resources to craft comprehensive policies to look at both how the samples are used and how parents are informed about their usage.”
Lewis and her colleagues found that 20 states have laws that specifically address the retention and/or use of dried blood spots. Another 13 states deal with information related to dried blood spots, but not the samples themselves. However, 18 states have no specific regulations dealing with either the retention or use of dried blood spots or related information.
To the extent that state regulations are silent on either parental knowledge about or consent for use of residual blood samples, it could undermine trust in that state’s overall newborn screening program, according to Lewis. “There has been lack of effective education for parents about use of the samples. In some cases this has fostered public distrust, and that creates barriers to the research use of the samples,” she said. “I’m especially concerned that the controversy surrounding the residual use of newborn screening samples could lead to increased refusal of newborn screening—in the states that allow parental refusal of screening. That could jeopardize public health.”
Both she and Resau encouraged laboratorians to learn about laws in their respective states and to be a voice for public education and promotion of residual newborn screening samples for research purposes.