Rebecca Anderson

State Laws Regarding the Retention and Use of Residual Newborn Screening Blood Samples

BACKGROUND: After newborn screening has been completed, many states retain residual newborn screening dried blood samples for various purposes, including program evaluation, quality assurance, and biomedical research. The extent to which states possess legal authority to retain residual dried blood samples (DBS) and use them for purposes unrelated to newborn screening is unclear. OBJECTIVE: The purpose of this study was to evaluate state laws regarding the retention and use of DBS. METHODS: State statutes and regulations related to newborn screening of all 50 states plus the District of Columbia were accessed online between November 2008 and December 2009 and reviewed by 2 independent reviewers to determine the extent to which the retention and use of DBS were addressed. RESULTS: The retention or use of DBS has not been addressed in 18 states. In 4 states, DBS becomes state property. Eight states require that parents be provided information regarding the retention of DBS. Parents in 5 states may request the destruction of their childs residual sample. Parental consent is required under certain circumstances to release DBS for research in 6 states. One state prohibits DBS from being used for research purposes. CONCLUSIONS: States have wide variability in their policies regarding the retention and use of DBS. Many states have not addressed key issues, and some states that retain DBS may be acting outside the scope of their legal authority. The lack of transparency on the part of states in retaining DBS may undermine public trust in state newborn screening programs and the research enterprise.

Public Attitudes Regarding the Use of Residual Newborn Screening Specimens for Research

BACKGROUND AND OBJECTIVES: Many state newborn screening (NBS) programs retain residual NBS bloodspots after the completion of screening. Potential uses for residual specimens include laboratory quality assurance, biomedical research, and, rarely, forensic applications. Our objective was to evaluate public opinion about the policies and practices relevant to the retention and use of residual bloodspots for biomedical research. METHODS: A total of 3855 respondents were recruited using 3 methods: focus groups (n = 157), paper or telephone surveys (n = 1418), and a Knowledge Networks panel (n = 2280). Some participants (n = 1769) viewed a 22-minute movie about the retention and use of residual specimens while other participants were provided only written information about this practice. All participants were surveyed using a 38-item questionnaire. RESULTS: A diverse set of participants was recruited. Respondents were very supportive of NBS in general and accepting of the use of residual bloodspots for important research activities. Respondents were evenly divided on the acceptability of NBS without parental permission, but the majority of respondents supported the use of an “opt-in” process for parental permission for residual bloodspot retention and use. Viewing the educational movie was associated with greater support for bloodspot retention and use. CONCLUSIONS: Our results show that the general public surveyed here was supportive of NBS and residual sample retention and research use. However, there was a clear preference for an informed permission process for parents regarding these activities. Education about NBS was associated with a higher level of support and may be important to maintain public trust in these important programs.

Retention and Research Use of Residual Newborn Screening Bloodspots

The storage and use of residual newborn screening dried blood specimens has generated significant controversy in the past 5 years, primarily because of public concerns over the lack of parental knowledge and consent for these activities. State policies addressing the management of these specimens vary widely, and there is currently little guidance to aid new state policy development to address the concerns of program professionals, investigators, and the general public. This article offers guidance for state policy based on multiple sources of data, including public attitudes, professional statements, state experience, and an analysis of the ethical, social, legal, and biomedical issues from a multidisciplinary group of scholars. This guidance will be useful for state programs that seek to develop policies that are informed by a contemporary analysis of the key ethical, legal, and social aspects of this practice. This article represents the work of the authors and does not represent American Academy of Pediatrics policy.

Assessing public attitudes on the retention and use of residual newborn screening blood samples: a focus group study.

This paper discusses attitudes and opinions of a diverse group of participants toward the retention and use of residual newborn blood samples for research. Data were drawn from focus groups based in six states in the USA, and results provide support for the retention and use of residual newborn blood samples for research when parental permission is asked beforehand. However, there were a number of concerns that also warrant attention for the development of policy and maintaining trust with the public, such as timing of permission, use of samples already stored, level of personal control of sample use and education. The results demonstrate the complexity of the topic and the ethical ambiguities associated with the retention and use of residual newborn blood samples.

Policy issues and stakeholder concerns regarding the storage and use of residual newborn dried blood samples for research

Newborn screening is an important public health programs in the United States. Over 4 million infants are screened each year for a number of conditions. There is a growing need for more explicit state policies governing the storage and research use of residual newborn samples. This paper provides an overview of newborn screening and issues related to policies of residual newborn samples as well as attitudes and opinions from stakeholders. Three groups (n = 21) were conducted with stakeholders: an African American group, a Pediatrician group and a Mothers of young children group. Despite the differences between these groups, consistent themes emerged from all groups that may be relevant for policy development governing the storage and use of residual newborn samples. The data from this exploratory study suggest that future policy developments with the newborn screening program warrant further public input on these topics.

Concerns of Newborn Blood Screening Advisory Committee Members Regarding Storage and Use of Residual Newborn Screening Blood Spots

OBJECTIVES We assessed attitudes and opinions of members of newborn blood screening (NBS) advisory committees regarding the storage and secondary research use of residual specimens from NBS. METHODS We conducted focus groups in 2008 and 2009 with NBS advisory committees (4 focus groups; n = 39 participants) in the Mountain States region (i.e., AZ, CO, MT, NM, NV, TX, UT, and WY). RESULTS Participants identified several challenges to implementing policies for storage of and research on residual newborn blood specimens. Themes that emerged from the data were public health relevancy; improvement of parental knowledge; impact of enhanced parental involvement; concerns over ownership, privacy, and confidentiality; identification of secondary research uses; and role of advisory committees. CONCLUSIONS Participants indicated that secondary uses of residual specimens entailed opportunities for improvements in NBS programs but also carried significant risks for their programs. Addressing concerns from stakeholders will be necessary for state-level adoption of national recommendations.

Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN

There is broad recognition of the need for population-based research to assess the safety and efficacy of newborn screening (NBS) for conditions that are not on current panels. However, prospective population-based research poses significant ethical, regulatory, and logistical challenges. In the context of NBS, there have been a variety of approaches that address parental decision-making in pilot studies of new screening tests or conditions. This article presents an ethical and legal analysis of the role of parental permission by the Bioethics and Legal Work Group of the Newborn Screening Translational Research Network created under a contract from the National Institute of Child Health and Human Development to the American College of Medical Genetics and Genomics. Circumstances are outlined in which a waiver of documentation of permission or a waiver of permission may be ethically and legally appropriate in the NBS context. These guidelines do not constitute American Academy of Pediatrics policy.

IRB practices and policies regarding the secondary research use of biospecimens.

BackgroundAs sharing and secondary research use of biospecimens increases, IRBs and researchers face the challenge of protecting and respecting donors without comprehensive regulations addressing the human subject protection issues posed by biobanking. Variation in IRB biobanking policies about these issues has not been well documented.MethodsThis paper reports on data from a survey of IRB Administrative Directors from 60 institutions affiliated with the Clinical and Translation Science Awards (CTSAs) about their policies and practices regarding secondary use and sharing of biospecimens. Specifically, IRB ADs were asked about consent for future use of biospecimens, assignment of risk for studies using biobanked specimens, and sharing of biospecimens/data.ResultsOur data indicate that IRBs take varying approaches to protocol review, risk assessment, and data sharing, especially when specimens are not anonymized.ConclusionUnclear or divergent policies regarding biospecimen research among IRBs may constitute a barrier to advancing genetic studies and to inter-institutional collaboration, given different institutional requirements for human subjects protections.

A randomized controlled trial of an electronic informed consent process.

A pilot study assessed an electronic informed consent model within a randomized controlled trial (RCT). Participants who were recruited for the parent RCT project were randomly selected and randomized to either an electronic consent group (n = 32) or a simplified paper-based consent group (n = 30). Results from the electronic consent group reported significantly higher understanding of the purpose of the study, alternatives to participation, and who to contact if they had questions or concerns about the study. However, participants in the paper-based control group reported higher mean scores on some survey items. This research suggests that an electronic informed consent presentation may improve participant understanding for some aspects of a research study.

Developing a National Registry for conditions identifiable through newborn screening

Purpose: State newborn screening programs are rapidly expanding with the inclusion of a large number of uncommon conditions. There remains significant uncertainty about many aspects of these conditions including their natural history, variability, treatment modalities being used, genotype-phenotype correlations, developmental outcomes, effect on families, and costs of care, among others. Data on these important outcome variables are not collected systematically through state programs. Recently, the American Academy of Pediatrics and the federal Health Resources and Services Administration have promoted the development of a data collection system on the long-term outcomes of children with conditions identified through newborn screening. This article provides an overview of the justification for such a system and recommendations for a design.Methods: Recommendations were developed through a multidisciplinary collaboration of regional and national scholars supported through a Health Resources and Services Administration funded project.Results: We propose a registry system with data inputs from subspecialists, the Medical Home, families, and schools. Further, the proposed system would utilize emerging communication technology to provide an interactive web-based system to support families and professionals in their care of children with these complex conditions.