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Introduction

Residual newborn screening samples represent a significant, though largely untapped, resource that could improve the health and welfare of the public, said Wylie Burke, if these samples could be used for translational research (Box 1-1). However, there are important ethical, legal, and social issues surrounding such use which must be addressed. As biological research uncovers new links between genetic variants and disease susceptibilities these issues will only become more pressing.

In the 1960s, states began collecting blood samples from babies to test for rare diseases such as phenylketonuria (PKU) that could be prevented if affected infants were identified at birth. Since then these public health programs have expanded dramatically as new tests and technologies have made it possible to screen for a large number of preventable diseases. Today most states require that all infants be screened for at least 29 of the 30 conditions1 recommended by the Secretary’s Advisory Committee on Heritable

BOX 1-1

Definition

Translational Research Defined here as the use of residual dried blood spots in basic laboratory, clinical, or public health research in order to transform the relevant findings into clinical applications and reduce disease burdens.

1

SCID was officially added to the Recommended Uniform Screening Panel core conditions on May 21, 2010.



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1 Introduction Residual newborn screening samples represent a significant, though largely untapped, resource that could improve the health and welfare of the public, said Wylie Burke, if these samples could be used for transla- tional research (Box 1-1). However, there are important ethical, legal, and social issues surrounding such use which must be addressed. As biological research uncovers new links between genetic variants and disease suscepti- bilities these issues will only become more pressing. In the 1960s, states began collecting blood samples from babies to test for rare diseases such as phenylketonuria (PKU) that could be prevented if affected infants were identified at birth. Since then these public health programs have expanded dramatically as new tests and technologies have made it possible to screen for a large number of preventable diseases. Today most states require that all infants be screened for at least 29 of the 30 con- ditions1 recommended by the Secretary’s Advisory Committee on Heritable BOX 1-1 Definition Translational Research Defined here as the use of residual dried blood spots in basic laboratory, clinical, or public health research in order to transform the relevant findings into clinical applications and reduce disease burdens. 1 SCID was officially added to the Recommended Uniform Screening Panel core conditions on May 21, 2010. 

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 USING RESIDUAL NEWbORN SCREENING SAMpLES Disorders in Newborns and Children (SACHDNC). Newborn screening programs collect samples through traditional heel pricks from more than 4 million infants per year in the United States, leading to the prevention of thousands of illnesses and premature deaths. Screening programs collect more blood samples than are necessary to complete screening tests in most infants. Once screening is completed, the remaining samples often are stored for future uses. Many of these uses are directly related to improving screening programs, such as the development of new methods and tests. But over the years, researchers have become increasingly aware that residual dried blood spots from newborn screen- ing programs constitute an unparalleled resource for public health and biomedical research. These residual samples have been used to study child- hood leukemia, exposure to environmental toxins, the prevalence of HIV infection, birth defects, and many other topics. The potential research uses of residual dried blood spots are limited only by the amount of residual blood on the card. Yet many questions—and considerable controversy—surround the use of these materials. Most parents know very little about the testing of their children and are unaware that samples can be stored for years afterward. Since the collection of blood spots from each infant is mandated by state laws, informed consent is not routinely obtained from the parents or guard- ians of the children and legal challenges have recently shed light on when, or if, these samples can be used for purposes other than those known to the donors. In Minnesota a group of families sued the state, claiming that the Minnesota Department of Health was violating a Minnesota privacy statute that requires “written informed consent [for the] collection, stor- age, use, and dissemination of genetic information.” In Texas, a group of parents also asked that the state obtain parental consent before collecting samples. Although the case in Minnesota was summarily dismissed, the settlement reached in the Texas case resulted in the state destroying 5.5 million samples (Bearder et al., 2009; Beleno et al., 2009). On May 24, 2010, the Roundtable on Translating Genomic-Based Research for Health held a workshop to examine the challenges and oppor- tunities in using residual newborn screening samples for translational research. The workshop examined such questions as: • What are the benefits of making residual newborn screening sam- ples available for research? • How can the privacy and rights of individuals be protected while allowing access to residual newborn screening samples? • How can these samples be made available for other uses with- out compromising the main function of the newborn screening program?

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 INTRODUCTION The workshop was held during the public comment period for a draft report from the SACHDNC that contained recommendations directed to the Secretary of Health and Human Services. In particular, their draft report contained several recommendations related to issues discussed extensively at the workshop. The SACHDNC recommended that state newborn screen- ing programs have legally vetted policies on the disposition of newborn screening samples and on who should have access to residual samples after screening is completed. It observed that state newborn screening programs should have strategies to ensure the education of health-care professionals and families about the newborn screening process. The draft report recom- mended that if residual newborn screening samples are made available for research, there should be an indication of parental awareness and willing- ness for those uses in compliance with federal research requirements. Unlike the SACHDNC, the Roundtable on Translating Genomic-Based Research for Health is not a body designed to generate recommendations. Rather, the roundtable seeks to ensure that the viewpoints of different stakeholders are identified and heard. By providing a forum where poten- tially opposing viewpoints can be considered, the roundtable tries to iden- tify common ground and foster innovation, partnerships, coordination, and collaborative problem solving. The issue of using residual newborn screening samples for research fits well with the charge of the roundtable, said Burke. This is an issue for which different points of view need to be compared, explored, and at least harmonized, if not resolved. For this reason, the workshop contained ample time for discussion and comment. In this regard, said Burke, the roundtable hopes that this summary of the presentations and discussions at the work- shop will be a valuable complement to the comments submitted on the draft report from the secretary’s advisory committee. The workshop also looked beyond newborn screening. Participants at the workshop discussed some of the most urgent issues in health care today, including autonomy, confidentiality, privacy, and informed consent. As researchers continue to explore the biological bases of diseases and disease susceptibilities, these issues will only become more significant. Because fun- damental questions concerning newborn screening can be examined within the context of specific public health programs, newborn screening offers lessons that can be applied much more broadly in health care.

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