Pilot programs in newborn screening

The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to describe the evaluation of the assay to be used before the condition was officially adopted by a state for its newborn screening panel. Since Guthrie's introduction of screening for PKU, each time a new condition was added to the panel, the screening assay itself was validated through a population-based trial, in which the test was performed with de-identified samples to avoid association between the test result and the infant. This is considered by the laboratory as the "pilot phase" of adding a new condition. To advance the science of NBS, especially to accommodate new technologies that may provide new types of information (genetic versus physiological) for each new condition, pilot programs are essential. Involvement of the clinical community serves to improve these evaluations and provides the needed clinical validation of decisions made as a result of it. This paper describes the historical context of pilot programs in population-based NBS that utilize laboratory-based markers as indicators of concern; specifically, three applications that demonstrate different approaches to the use of pilots in adding conditions to a NBS panel are described.     

The role of cognitive factors in the pathogenesis of obsessive-compulsive symptoms: a prospective study

Cognitive models of obsessive-compulsive disorder (OCD) posit that specific kinds of dysfunctional beliefs (e.g., pertaining to responsibility and the significance of intrusive thoughts) underlie the development of this disorder. The present study was designed to prospectively evaluate whether dysfunctional beliefs thought to underlie OCD act as a specific vulnerability factor in the pathogenesis of obsessive-compulsive symptomatology. Eighty-five individuals were prospectively followed over a period of time thought to be associated with an increased onset of OCD symptoms -- childbirth and the postpartum. The majority of these new mothers and fathers experienced intrusive infant-related thoughts and performed neutralizing behaviors similar to, but less severe than, those observed in OCD. Scores on a measure of dysfunctional beliefs thought to underlie OCD predicted the development of obsessive-compulsive symptoms after controlling for pre-existing OCD symptoms, anxiety, and depression. Dysfunctional beliefs also predicted the severity of checking, washing, and obsessional OCD symptom dimensions, but not neutralizing, ordering, or hoarding symptom dimensions. These data provide evidence for specific dysfunctional beliefs as risk factors in the development of some types of OCD symptoms.