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ELSI issues in Expanded Newborn Screening (Bailey, Skinner, Davis, Powell, Roche)
Significance: Newborn screening is in a state of rapid change. Grosse and colleagues have noted that there is a shifting paradigm in newborn screening from a model of “public health emergency” (screening so that immediate action can be taken to prevent irreversible harm) to a model of “public health service” (screening as a service to families and infants, justified by broader but possibly more moderate benefits). As new technologies are developed, we must envision a future in which it is possible to identify many genetic anomalies cheaply and with great accuracy. For most of these conditions there will be no medical treatment and parents conceivably could be given information about carrier status of children or about conditions that are only probabilistic in nature. This scenario evokes a wide range of ethical, legal, and social issues and thus provides a timely and fruitful context for ELSI research. Building on our work during the planning period, we are continuing research on the ELSI issues that arise with expanding newborn screening. Screening would result in disclosure of information about carrier status in children, genotypic variations that may have subtle or non-existent effects, and the statistical possibility of late-onset conditions. In this project, we evaluate the effectiveness of the informed consent protocol to sufficiently prepare parents for the complex information they receive. During the first three years of the Center, we are examining these issues in a research project at UNC Hospitals that offers newborn screening for fragile X syndrome (FXS). This project addresses three research questions:
Research Question 1: What are parents’ decisions about having their newborn children screened for FXS, the reasons for their choice, and any variation in responses by demographic characteristics?
Research Question 2: What is the effectiveness of the informed consent protocol in preparing parents for information they might receive, and what are the persisting challenges to an informed consent process?
Research Question 3: How do families adapt to information gained as a result of screening and what are the personal and social ramifications for them?
Outcomes: This project will provide important information about public willingness to participate in expanded NBS, the adequacy of a consent process, benefits for children and families, and concerns or problems experienced by children and families. Parents’ responses will increase our capacity to provide important information about the materials, processes and supports parents will need to make informed decisions about expanded screening. Results will be used to help develop the most efficient and judicious translation of expanded newborn screening into public health and clinical practice in ways that maximize benefit to children and families, and minimize harm.
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