Although cystic fibrosis (CF) is the most common, life threatening autosomal recessive genetic disorder of the white population, there are often delays in diagnosis and hence initiation of treatment. Advances of the past two decades have made CF screening feasible using routinely collected neonatal blood specimens and determining trypsinogen levels and CF mutations by DNA analyses. Our overall goal is to address the following hypothesis: Early diagnosis of CF through neonatal screening will be medically beneficial without major risks.

As the scientific study of genetic variation between human groups gains momentum around the world, traditional questions of research ethics are being transformed in ways that challenge our conventional wisdom about the responsible conduct of research. Challenges associated with obtaining informed consent may be heightened because of difficulties explaining genetic concepts cross-culturally. In some cases, language barriers may diminish effective communication even when literal translation is not a problem.

An increasing number of genetic carrier screening tests pose a challenge to adequate prenatal patient education. Clinic based computer patient education programs may be an effective response to this challenge. Before mounting a RCT to assess their effectiveness it is essential to study the feasibility of operating such programs in clinic settings. We propose a feasibility study.

Recent rapid developments in genetic medicine are creating the expectation that genetic assessments will soon become integral to routine health care. Yet while such practices stand to have far-ranging clinical implications, little empirical attention has been devoted to understanding the processes or consequences of incorporating genetic testing into routine diagnosis and management procedures.