文章基本信息

标题：Concerns of Newborn Blood Screening Advisory Committee Members Regarding Storage and Use of Residual Newborn Screening Blood Spots
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作者：Erin W. Rothwell ; Rebecca A. Anderson ; Matthew J. Burbank 等
期刊名称：American journal of public health
印刷版ISSN：0090-0036
出版年度：2004
卷号：101
期号：11
页码：2111-2116
DOI：10.2105/AJPH.2010.200485
语种：English
出版社：American Public Health Association
摘要：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. The operation of newborn blood screening (NBS) programs is a core state public health service.¹ These programs collectively represent the largest application of genetic testing in the United States.² NBS is critical for preventing significant morbidity and mortality by screening almost every baby born in the United States within the first few days of life. Blood obtained from a heel stick is dried on filter paper to conduct testing for several conditions. States vary somewhat in testing procedures and conditions targeted. Cumulatively, state health departments receive dried blood spots (DBSs) on filter paper from approximately 4 million newborns per year. At the time of the heel stick, more blood is drawn than may be necessary to complete the NBS tests, to ensure that there is sufficient blood available if reanalysis is needed, and to facilitate quality assurance protocols. Consequently, if residual newborn DBSs were accumulated over time, almost the entire population of children born in the United States would be represented. The length of storage and secondary research use of DBSs differ significantly by state and are of major concern within the state NBS programs.³ Residual DBSs historically have been used for quality control and evaluation of new tests in NBS programs. Quality assurance applications of residual samples have not been controversial and are often considered authorized as an integral component of NBS programs. Residual DBSs have been increasingly recognized as a valuable source for other biomedical research uses outside the scope of the NBS. For example, residual DBSs have been used for infectious disease epidemiology, genetic epidemiology, environmental agent epidemiology, birth defects studies, and population-based studies.^{4 – 7} However, the potential use of residual DBSs for biomedical research unrelated to NBS has raised several ethical, legal, and social dilemmas among ethicists, public health officials, policymakers, and researchers.^{7 , 8} At the national level, the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children is developing policy recommendations for storage and secondary research use of DBSs.⁹ The American College of Medical Genetics also has released a position statement on the importance of DBSs for biomedical research.¹⁰ The development of state public health policy, however, occurs at the state level. Accordingly, state-specific concerns should be addressed at the state level. Policy developments at the state level have historically used advisory committees to provide input, direction, and representativeness of various stakeholders and the public.^{11 – 14} In 2000, an American Academy of Pediatrics task force developed a report to address policy concerns raised by state NBS programs.¹¹ The report included a recommendation that advisory committees should be established in each state to provide guidance on policy developments in NBS programs.¹¹ Involvement of advisory committees with policy developments was also recommended previously by the National Institutes of Health Task Force on Genetic Testing for Promoting Safe and Effective Genetic Testing in the United States.¹² The Council of Regional Genetic Networks similarly recognized and valued the role of advisory committees and recommended that each state have at least 1 advisory committee that included health care professionals, families, and the public.¹³ Recent lawsuits in Texas and Minnesota over the storage and secondary use of DBSs have increased scrutiny of how DBSs are managed and of the roles advisory committees might play regarding this important issue.^{15 , 16} Because no research has been conducted on how advisory committees view this policy issue, we convened focus groups with state NBS advisory committee members to ascertain attitudes and opinions regarding the storage and secondary research use of DBSs. This research was a component of a larger project aimed at promoting public dialogue on the use of residual NBS samples for research funded by the National Human Genome Research Institute.