Residual bloodspots are essential for QA purposes for NBS programs but also can be used for a broad range of biomedical research. However, given the limited information readily available to parents about NBS and bloodspot retention and use, it is not surprising that this practice has become controversial. Lay advocates in both Minnesota and Texas characterize the practice in alarmist terms, including the sale of infant t-shirts exclaiming “Help!!! The Govt Has My DNA.”17
Both states have been involved in litigation over this issue, and many states are concerned about public backlash against NBS programs in general.
A number of professional organizations have commented on the retention of DBS. The American Academy of Pediatrics Task Force issued a detailed set of recommendations in 2001.1
The task force recommended that research with unlinked specimens (not individually identifiable) was appropriate when consistent with the goals of NBS programs and that parents should be informed that residual specimens might be used for QA or epidemiologic research. Furthermore, they recommended that research with identifiable specimens should be conducted with parental permission and only when the DBS are the optimal resource for the proposed research. The Institute of Medicine organized a roundtable discussion in 2010 that highlighted many of the benefits and complexities of QA and research with retained DBS, and speakers emphasized the need for better communication and collaboration with parents to maintain trust in these public health programs.8
The Secretary’s Advisory Committee on Heritable Diseases in Newborns and Children issued a briefing paper in 2010 addressing policy issues in the retention and use of DBS.9
They recommended the development of well-defined strategies and policies, including the promotion of education for parents and health professionals. Both the American College of Medical Genetics and the Association of Public Health Laboratories have issued statements on this topic that emphasize the value of the specimens and the need for new policies to protect the privacy and confidentiality of families.18,19
Research using DBS is generally conducted with de-identified specimens, and we have not identified any reports of harm or breaches of privacy from projects using DBS. Beyond the NBS context, use of residual clinical biospecimens is a common practice in biomedical research.20
Although the ethical and regulatory issues in biobanking have been a topic of active discussion, there has been little public controversy over these practices. Public sensitivities may be heightened in the NBS context due to the lack of parental consent or adequate education for the clinical service, the acquisition of specimens from a vulnerable population, a direct role of state government, and the perception that genetic research poses special risks.
A significant concern in the pediatric and public health communities is that greater public awareness of the retention and use of residual specimens will impair the efficacy of NBS.21
The worry is that parents will refuse NBS because of concerns over DBS retention and use. Our results demonstrate a high level of support for NBS in general and are consistent with other recent results in the field.22,23
Furthermore, we found that support for NBS was enhanced through more in-depth education on the issues. Therefore, our results do not suggest that there is a major conflict between education about NBS and support for NBS generally or sample retention and use specifically.
However, our results also demonstrate that there is a substantial minority of individuals who are highly concerned about this practice. The recent legal cases illustrate that vocal citizens with strongly held opinions can have significant impacts on program policy and function. The litigants in these cases are primarily demanding a parental permission process. We found that despite an evenly divided set of opinions about parental permission for NBS clinical services, a majority of our participants (62%) support an opt-in approach to DBS retention and use. The focus group discussions clearly demonstrated that participants support NBS and DBS retention and use but that they want more information about both and a choice over the latter. Our results are consistent with those of Tarini et al24
in this regard. It is notable that the American Academy of Pediatrics, the Institute of Medicine, and the Secretary’s Advisory Committee on Heritable Diseases in Newborns and Children statements advocate more education and public transparency relevant to this practice and so appear consistent with our measure of public expectations.
We found that the single most consistent independent variable associated with support for DBS use was viewing the educational movie. Despite the strong statistical significance of the association between viewing the movie and support for DBS use, the magnitude of this effect (β) was modest in practical terms. Other variables associated with more support on these particular questions include female gender, survey method, higher education, older age, and being the mother of a young child. These variables also had modest effects. Variables such as race, ethnicity, income, parenthood, and geographic location had no meaningful effect on responses to most questions.
A weakness of the study is that we received approval from only 1 state, Utah, to conduct the PRAMS-like survey, raising uncertainty about the generalizability of data from this important group. Another weakness is a dependence on the movie and the written information in the survey for educating the general public about a complex, unfamiliar topic.