Patient and family issues regarding genetic testing for cystic fibrosis: a review of prenatal carrier testing and newborn screening.
Cystic fibrosis (CF) is a potentially life-shortening autosomal recessive genetic condition resulting in chronic progressive respiratory involvement, malnutrition, electrolyte imbalance, and male infertility It is the most common autosomal inherited condition in the white population, and its presence is recorded with varying prevalence across ethnicities. Since the 1989 discovery of the genetic variant F508del, the most common cystic fibrosis transmembrane conductance regulator (CFTR) mutation, more than 1900 CF mutations have been identified. The 1997 National Institutes of Health (NIH) Consensus Statement on Cystic Fibrosis, along with 2001 and 2005 recommendations from the American College of Obstetricians and Gynecologists (ACOG), provide the basis for population CF carrier screening in the prenatal setting. Recommendations for newborn screening (NBS) for cystic fibrosis were released in 2004, with NBS programs in the United States initiated thereafter. With the wide variety of CFTR mutations and mutation combinations, there is not a clear understanding of the genotype-phenotype correlations or of the anticipated clinical trajectory for an individual who has identified CFTR mutations. This ambiguity creates challenges for patients and families in decision making related to CFTR carrier screening during the prenatal period, understanding the results of newborn screening for CF, or coping with the new genetic knowledge obtained. This literature review examines research regarding genetic testing for CF as it related to population screening. Patient and family issues from both the prenatal period and newborn testing are reviewed. Opportunities for future nursing research and implication for nursing practice are discussed.
University of Illinois at Chicago, College of Nursing, USA.
Kathleen J H
KJ
Sparbel
Audrey
A
Tluczek
D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics / Q000451:nursing; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000639:trends*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening / Q000379:methods / Q000639:trends*; D018802:Patient-Centered Care / Q000639:trends; D011247:Pregnancy; D011295:Prenatal Care / Q000379:methods / Q000639:trends*