Newborn Screening for Cystic Fibrosis: Parents’ Preferences Regarding Counseling At the Time of Infants’ Sweat Test
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Newborn screening (NBS) protocols for cystic fibrosis (CF) are the first regional population-based programs to incorporate DNA analysis into their procedures. Research about these programs can inform policy and practice regarding how best to counsel families with abnormal NBS results. The grounded theory method guided interviews with 33 families whose infants had abnormal CF NBS results. A dimensional analysis of these interviews provided a theoretical framework describing parents’ preferences regarding counseling during their infant's sweat test appointment. This framework describes the contexts and characteristics of the two main dimensions of parents’ preferences: factual information and emotional support. Factual information included learning about the probability of a CF diagnosis, CF disease facts, sweat test procedure, and CF genetics. Social support consisted of offering parents a choice about the timing and amount of CF information, showing empathy for their distress, instilling hope, personalizing counseling, and providing hospitality. This framework also explains the consequences of counseling that matched versus mismatched parental preferences in these domains. Counseling that matched parents preferences reduced parents’ distress while mismatched counseling tended to increase parents’ worry about their infant.
KEY WORDS:cystic fibrosis genetic counseling newborn screening psychosocial
We thank families who participated in this study for generously sharing their experiences with us. We gratefully acknowledge Barbara Bowers, PhD, RN, Roseanne Clark, PhD, and CF Center staff for their assistance with various aspects of this study. This research was funded by the National Institute on Diabetes, Digestive, and Kidney Diseases and by the National Institute for Human Genome Research (R01 DK34108–16) and National Institute of Child Health and Human Development (K23HD42098-01).
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