Newborn screening, informed consent, and future use of archived tissue samples

Recent advances in genetic technologies have combined with established protocols for genetic screening to provide immense benefits to individuals and the public. In most American jurisdictions, newborn screening is mandated by law and does not require parental consent for the collection or testing of the blood samples. Screening programs have been successful in identifying affected infants at an early stage for effective treatment of some genetic diseases. The public health benefit of screening programs is recognized and affirmed. However, collections of surplus, stored samples have become immensely attractive to researchers in medical genetics and the biomedical sciences. As geneticists have sought access to the newborn screening samples, they have recognized concerns related to whether they should use the samples, and, if so, under what conditions. This paper addresses the ethical issues associated with genetic screening and recommends an informed consent protocol that may be used to balance individual and parental rights with the interests of researchers who wish to use surplus samples in studies of genetic disease.