TY - JOUR
T1 - Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research
AU - Ioannou, Liane
AU - McClaren, Belinda
AU - Massie, John
AU - Lewis, Sharon
AU - Metcalfe, Sylvia Ann
AU - Forrest, Laura E
AU - Delatycki, Martin
PY - 2014
Y1 - 2014
N2 - Cystic fibrosis is the most common severe autosomal recessive disease, with a prevalence of 1 in 2,500-3,500 live births and a carrier frequency of 1 in 25 among Northern Europeans. Population-based carrier screening for cystic fibrosis has been possible since CFTR, the disease-causing gene, was identified in 1989. This review provides a systematic evaluation of the literature from the past 23 years on population-based carrier screening for cystic fibrosis, focusing on the following: uptake of testing; how to offer screening; attitudes, opinions, and knowledge; factors influencing decision making; and follow-up after screening. Recommendations are given for the implementation and evaluation of future carrier-screening programs.
AB - Cystic fibrosis is the most common severe autosomal recessive disease, with a prevalence of 1 in 2,500-3,500 live births and a carrier frequency of 1 in 25 among Northern Europeans. Population-based carrier screening for cystic fibrosis has been possible since CFTR, the disease-causing gene, was identified in 1989. This review provides a systematic evaluation of the literature from the past 23 years on population-based carrier screening for cystic fibrosis, focusing on the following: uptake of testing; how to offer screening; attitudes, opinions, and knowledge; factors influencing decision making; and follow-up after screening. Recommendations are given for the implementation and evaluation of future carrier-screening programs.
UR - http://www.nature.com/gim/journal/v16/n3/pdf/gim2013125a.pdf
U2 - 10.1038/gim.2013.125
DO - 10.1038/gim.2013.125
M3 - Article
VL - 16
SP - 207
EP - 216
JO - Genetics in Medicine
JF - Genetics in Medicine
SN - 1098-3600
IS - 3
ER -