Long-term Evaluation of Genetic Counseling Following False-Positive Newborn Screen for Cystic Fibrosis
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ORIGINAL RESEARCH
Long-term Evaluation of Genetic Counseling Following False-Positive Newborn Screen for Cystic Fibrosis Laura Cavanagh & Cecilia J. Compton & Audrey Tluczek & Roger L. Brown & Philip M. Farrell
Received: 9 July 2009 / Accepted: 12 November 2009 / Published online: 4 February 2010 # National Society of Genetic Counselors, Inc. 2010
Abstract This cross-sectional mixed method study was a long-term follow-up evaluation of families who participated in an earlier survey of their understanding of cystic fibrosis (CF) genetics and their infants’ false-positive CF newborn screening (NBS) results. Thirty-seven of the original 138 parents participated in the follow-up telephone survey. Results showed parents who received genetic counseling at the time of their infants’ diagnostic sweat tests had significantly higher long-term retention of genetic knowledge than those without genetic counseling. However, both groups still had misconceptions and lacked accurate information about the actual risk associated with being a CF carrier. Most parents either had already informed (65%) or planned to inform (19%) their children about the child’s carrier status. Mean child age at the time of disclosure was 9.2 years. Situational prompts were the most common reasons for informing their children. Neither parental knowledge, medical literacy, nor parental education predicted whether parents informed their children about their carrier status. False-positive NBS results for CF were not associated with parental perceptions of child vulnerability 11– L. Cavanagh Genetics Center, Orange, CA, USA C. J. Compton 31 Thornford Road, London SE13 6SG, UK A. Tluczek (*) : R. L. Brown University of Wisconsin School of Nursing, 600 Highland Ave. K6/346, Madison, WI 53792, USA e-mail: [email protected] A. Tluczek : R. L. Brown : P. M. Farrell University of Wisconsin School of Medicine and Public Health, Madison, WI, USA
14 years after the testing. Although the sample from this study was small, these findings underscore the benefits of genetic counseling at the time of the diagnostic sweat test and offer information that can assist parents in talking with their children about the implications of having one CFTR mutation. Keywords Cystic fibrosis . False-positive . Genetic counseling . Newborn screening . Psychosocial
Introduction Overview of Cystic Fibrosis Cystic Fibrosis (CF) is a potentially life-shortening autosomal recessive genetic condition affecting approximately one in 3,500 live births in the United States (US). Mutations in the CF transmembrane conductance regulator (CFTR) gene produce an abnormal protein that causes a functional defect in the chloride channel. Over 1,600 mutations have been found in the CFTR allele (Moskowitz et al. 2008). Although the phenotypic presentation can be influenced by a combination of genetic and environmental factors, patients with CF typically have chronic pancreatic insufficiency and recurrent exacerbations of pulmonary bacterial infections that lead to serious morbidity and mortality (Moskowitz
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