Newborn screening as a model for population screening

Abstract

The incorporation of newborn screening into the states’ departments of public health represented the formal initiation of population-based predictive medi-cine with the goal of prevention of morbidityand mortalityfrom genetic disease. Starting with a meth-odologybased on microbiology, the bacterial inhibition assay[1], the field has incorporated far more advanced technologies such as molecular genetic analyses [2–7] and tandem mass spectrometry(MS/MS) [8–12]. Pre-diction and prevention are fundamental to public health and genomic medicine. Effective integration of screening across the lifespan for genetic predisposition and disease will require utilization of advanced technologies and information systems, and incorporation of appropriate safeguards to protect autonomy, privacy and confiden-tiality. As newborn screening testing menus expand and population-based genetic screening extends through adulthood, pilot programs must be developed and evaluated to determine their abilityto achieve the goals and objectives for which theyare designed [13]. Such pilot programs will require careful design, not onlyto assess the technological bases of these systems, but also to evaluate their impact on the individuals tested. De-termination of impact must include not onlytraditional effectiveness measures such as changes in morbidityand mortalityfrom disease, but also the ethical, legal and social implications of testing such as genetic discrimi-nation [14–18]. Design and implementation of genetic screening programs will require broad-based expertise. In addition to the traditional membership on screening program advisorycommittees, such as medical specialists and subspecialists, laboratorians, and public health and government officials, these groups must represent all stakeholders [13]. Affected individuals and their family members have the best-informed experience with the process and consequences of screening, and theyshould be incorporated as full and equal members.