Ethical, legal and social issues in newborn screening in the United States.

ABSTRACT

Four million babies are born annually in the US. There are 51 separate laws mandating universal screening and each has its own restrictions. Forty-nine programs allow the parents to "opt out" of testing (dissent), and 2 programs allow the parents to "opt in" (consent). The extent to which these decisions are "informed" varies and in most cases, no information exists as to whether the parents knew or understood what the newborn screening program entailed. Most programs have educational material available describing the state program but whether this information is the information needed (in terms of literacy level and content) to provide a sufficient understanding of the program is not generally known. In most programs, testing is automatic and the program information is contained in the hospital materials given to the mother upon entry or exit from the birthing facility. All newborn screening programs are administered by the state public health agency and ultimately the state legislatures are responsible for creating the laws governing newborn screening. Financing mechanisms are complex with fees varying from $0 - $60 and not directly related to the number of disorders screened, although system components such as education, methods of sample collection, sample submission, laboratory testing, follow-up, confirmation, diagnosis, treatment, outcome and quality assurance are considered in most fee setting processes. The standards for programs have developed over the years at least partly as a result of medical-legal confrontations. During the past several years there has been a notable increase in program expansions including expanded biochemical testing and screening for hearing loss. In 1999, the Maternal and Child Health Bureau funded a newborn screening task force to review the issues facing state newborn screening systems and to make recommendations for improvements and/or changes in these systems. Two primary issues of ethical, legal and social consequence were considered (1) the inclusion of diverse groups (including consumers) in newborn screening decision making, and (2) existence of adequate policies regarding privacy, consent, and research ethics. Following extended review and discussion, the Task Force recommended greater emphasis on parent education, permission for testing, and prenatal education. It was also recognized that studies should be carried out to improve parental understanding of newborn screening and the informed permission process, and to improve the public's overall understanding of the screening process.