WHAT'S KNOWN ON THIS SUBJECT:
Previous research has demonstrated that many state newborn screening laboratories do not have policies regarding the retention and use of residual newborn screening blood samples. Several national organizations have recommended that states develop policies regarding this important issue.
WHAT THIS STUDY ADDS:
This study evaluated the extent to which issues related to the retention and use of residual newborn screening blood samples are addressed by state statutes and regulations. The recent lawsuits in Texas and Minnesota regarding this issue also are discussed.
All 50 states plus the District of Columbia operate newborn screening programs. Newborn screening is mandatory in 49 states, and most of the 4 million infants born each year in the United States undergo newborn screening.1,2
After newborn screening has been completed, many states retain the residual dried blood samples (DBS).3
A total of 40% of state public health laboratories have reported retaining DBS for at least 1 year.4
DBS have a broad range of potential uses, including the evaluation of state newborn screening programs, quality improvement, and the development of new technology to improve newborn screening. They also may be used for surveillance or other public health activities, for example the detection of HIV seroprevalence rates.5
In addition, DBS have been used for forensic purposes and for biomedical research, both related and unrelated to newborn screening (eg, to detect environmental exposures).4
Interest in the use of DBS for research purposes is growing, and organizations are developing infrastructures to facilitate the use of these valuable specimens. At the state level, Michigan developed the Michigan Biotrust for Health to make DBS “more useful for medical and public health research.”6
Nationally, the National Institutes of Health awarded a contract to the American College of Medical Genetics in 2009 to develop a National Newborn Screening Translational Research Network. One of the goals of the Newborn Screening Translational Research Network is to establish a “repository of residual dried bloodspots that is either virtual or physical and comprised of those stored by state newborn screening programs and other resources.”7
However, state newborn screening programs were not created for these purposes, and state departments of health (DoH) that retain DBS and use them for research without specific authorization may be operating beyond the scope of their legal authority. Despite recommendations from the Council of Regional Networks for Genetic Services8
and the American Academy of Pediatrics1
that state newborn screening programs develop policies for the retention and use of DBS, previous research has demonstrated that a significant number of screening laboratories do not have written policies in place.9
The Secretary's Advisory Committee on Heritable Disorders in Newborns and Children noted in 2010 that the storage and use of DBS for “nonstandard uses such as research may not be adequately addressed in current state laws or policies.”10
Similarly, an Institute of Medicine workshop convened in 2010 to address the challenges and opportunities related to DBS research cited the need for greater transparency and accountability regarding the operation of state newborn screening programs.11
The scope of state authority to retain and use DBS without explicit parental permission was a central element in 3 recent lawsuits. First, in Minnesota, 9 families sued the state DoH,12
claiming that the retention of DBS without explicit parental consent violated the state's Genetic Privacy Act.13
The suit was unsuccessful because the court ruled that the state's Genetic Privacy Act did not apply to the newborn screening program. In 2009, 5 families sued the Texas Department of Health Services for storing DBS indefinitely and using them for undisclosed research purposes without parental permission.14
In response to the lawsuit, the Texas newborn screening laws were changed to authorize the retention of DBS, and the lawsuit was settled. In the negotiated settlement, Texas agreed to destroy 5 million DBS that were retained without parental consent before the new legislation took effect.15
The Texas program subsequently revealed that it had given 800 DBS to the US Armed Forces Pathology Laboratory for use in a forensics database.16
This revelation prompted an additional lawsuit claiming that the department “sold, traded, bartered, and distributed”17
DBS without parental permission for “undisclosed purposes” unrelated to the purpose for which the blood was drawn. This lawsuit is pending at the time of this writing. These lawsuits have raised the profile of these issues in state DoH and have led 1 state legislature to consider prohibiting the storage of DBS without parental consent.18
Expanding interest in the use of DBS and public controversy generated in some states have made the management of DBS a high-priority issue for many state newborn screening programs. The purpose of this study was to evaluate state laws to determine the extent to which issues related to the retention and use of DBS for medical research are addressed.