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Psychosocial consequences of false-positive newborn screens for cystic fibrosis

Audrey Tluczek1, Kate Murphy Orland, Laura Cavanagh

  • 1Department of Pediatrics, University of Wisconsin, School of Medicine and Public Health, Madison, Wisconsin, USA. atluczek@wisc.edu

Qualitative Health Research
|September 21, 2010
PubMed

Insights

False-positive newborn screening (NBS) results for cystic fibrosis (CF) have significant psychosocial impacts on families. Understanding these effects is crucial for improving genetic testing support and interventions.

Area of Science:

  • Genetics
  • Psychology
  • Family Systems

Background:

  • Newborn screening (NBS) for cystic fibrosis (CF) provides early detection but can yield false-positive results.
  • False-positive results present unique psychosocial challenges for families.
  • A framework is needed to understand parental experiences with these results.

Purpose of the Study:

  • To develop a framework for understanding parents' psychosocial experiences with false-positive NBS results for CF.
  • To identify the intrapersonal, interpersonal, and family system impacts of these results.

Main Methods:

  • Content analysis of interviews with 87 parents of 44 infants.
  • Qualitative analysis of parental perspectives on false-positive NBS results for CF.

Main Results:

  • Parents experienced intrapersonal effects (e.g., test accuracy concerns, future worries) and interpersonal effects (e.g., relationship changes, paternity questions).
  • Genetic information from NBS influenced family dynamics, including concerns about relatives and genetic source.
  • Parents reported supporting NBS while experiencing emotional repercussions.

Conclusions:

  • Abnormal NBS results involving genetic testing can have widespread psychosocial consequences for the entire family.
  • Further research is needed on long-term effects, interventions for iatrogenic harm, and the applicability of the family system framework to other genetic tests.

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