Search

The expansion of newborn screening (NBS) has been accompanied by debate about what benefits should be achieved and the role of parental discretion in their pursuit. The opportunity to inform parents of reproductive risks is among the most valued additional benefits gained through NBS, and assumes prominence where the primary goal of identifying a treatable condition is not assured. We reviewed 53 unique guidelines addressing prenatal, preconception and newborn screening to examine: (1) how generating reproductive risk information is construed as a benefit of screening; and (2) what conditions support the realization of this benefit. Most preconception and prenatal guidelines – where generating reproductive risk information is described as a primary benefit – required that individuals be given a ‘cascade of choices’, ensuring that each step in the decision-making process was well informed, from deciding to pursue information about reproductive risks to deciding how to manage them. With the exception of three guidelines, NBS policy infrequently attended to the potential for reproductive benefits; further, most guidelines that acknowledged such benefits construed voluntarism narrowly, without attention to the choices attendant on receiving reproductive risk information. This review suggests that prenatal and preconception guidance identifies a coherent framework to support the pursuit of reproductive benefits through population screening programmes. Interestingly, attention to reproductive benefits is increasing among NBS guidance, yet reflection on how such benefits ought to be pursued remains limited. Traditional norms for NBS may require reconsideration where the remit of screening exceeds the primary goal of clinical benefits for infants. [ABSTRACT FROM AUTHOR]

While newborn blood spot screening has historically been viewed as a public health success, the potential harms and benefits are more finely balanced for new conditions being considered for program expansion. We highlight complex issues that must be addressed in policy decisions, which in turn requires a consideration of many stakeholder perspectives. Using national policy documents from the United Kingdom, the United States, Australia, and Canada, we describe the participation of stakeholder organizations in the newborn screening policy process, how such organizations have incorporated stakeholder views into their own policy writing, and their recommendations for inclusiveness. Stakeholder participation in newborn screening decision-making is widely acknowledged as important, and many methods have been endorsed – consultation as well as direct or indirect input into policy development. Differences across organizations and jurisdictions raise questions about the most effective approaches for facilitating inclusiveness, suggesting a need for formal evaluative research.Journal of Public Health Policy (2008) 29, 121–142. doi:10.1057/palgrave.jphp.3200161 [ABSTRACT FROM AUTHOR]

Mentions the need for policies concerning secondary uses of storage of genetic information derived from blood samples taken during newborn health screening. Comparison showing how seven countries store newborn dried blood spots (DBS); The purpose of banking residual DBS and secondary uses of archived samples; The issue of protecting confidentiality; Suggestion that public health agencies develop guidelines defining appropriate use of stored DBS, model consent forms, and educational material for parents to inform them about safeguards regarding access to and use of DBS.

The article offers information on the expansion of newborn screening in pursuit of the reproductive benefits in the U.S., Denmark, and Canada. Reproductive benefit has been considered secondary to identifying treatable condition in newborn screening within the consent or mandatory systems to receive information. Moreover, the author argues that pursuing health benefit through newborn screening program is not appropriate and may be best achieved through traditional antenatal screening programs.

OBJECTIVES: Newborn screening (NBS) programs may store bloodspot samples and use them for secondary purposes. Recent public controversies and lawsuits over storage and secondary uses underscore the need to engage the public on these issues. We explored Canadian values regarding storage and use of NBS samples for various purposes and the forms of parental choice for anonymous research with NBS samples. METHODS: We conducted a mixed-methods, public engagement study comprising 8 focus groups (n = 60), an educational component, deliberative discussion, and pre- and post-questionnaires assessing knowledge and values toward storage and parental choice. RESULTS: Canadian citizens supported the storage of NBS samples for quality control, confirmatory diagnosis, and future anonymous research (>90%). There was broad support for use of NBS samples for anonymous research; however, opinions were split about the extent of parental decision-making. Support for a "routinized" approach rested on trust in authorities, lack of concern for harms, and an assertion that the population's interest took priority over the interests of individuals. Discomfort stemmed from distrust in authorities, concern for harms, and prioritizing individual interests, which supported more substantive parental choice. Consensus emerged regarding the need for greater transparency about the storage and secondary use of samples. CONCLUSIONS: Our study provides novel insights into the values that underpin citizens' acceptance and discomfort with routine storage of NBS samples for research, and supports the need to develop well- designed methods of public education and civic discourse on the risks and benefits of the retention and secondary use of NBS samples. [ABSTRACT FROM AUTHOR]

OBJECTIVES: Retaining residual newborn screening (NBS] bloodspots for medical research remains contentious. To inform this debate, we sought to understand public preferences for, and reasons for preferring, alternative policy options. METHODS: We assessed preferences among 4 policy options for research use of residual bloodspots through a bilingual national Internet survey of a representative sample of Canadians. Fifty percent of respondents were randomly assigned to select reasons supporting these preferences. Understanding of and attitudes toward screening and research concepts, and demographics were assessed. RESULTS: Of 1102 respondents (94% participation rate; 47% completion rate], the overall preference among policy options was ask permission (67%]; this option was also the most acceptable choice (80%]. Assume permission was acceptable to 46%, no permission required was acceptable to 29%, and no research allowed was acceptable to 26%. The acceptability of the ask permission option was reduced among participants assigned to the reasoning exercise (84% vs 76%; P = .004]. Compared with assume/no permission required, ordered logistic regression showed a significant reduction in preference for the ask permission option with greater understanding of concepts (odds ratio, 0.87; P < .001], greater confidence in science (odds ratio, 0.16; P < .001], and a perceived responsibility to contribute to research (odds ratio, 0.39; P < .001]. CONCLUSIONS: Surveyed Canadians prefer that explicit permission is sought for storage and research use of NBS bloodspots. This preference was diminished when reasons supporting and opposing routine storage, and other policy options, were presented. Findings warrant consideration as NBS communities strategize to respond to shifting legislative contexts. [ABSTRACT FROM AUTHOR]