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 screening programs constitute an unparalleled resource for public health and biomedical research. These residual samples have been used to study childhood 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 guardians 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, storage, 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 opportunities in using residual newborn screening samples for translational research. The workshop examined such questions as:
What are the benefits of making residual newborn screening samples 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 without compromising the main function of the newborn screening program?