Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research

Genet Med. 2014 Mar;16(3):207-16. doi: 10.1038/gim.2013.125. Epub 2013 Sep 12.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Systematic Review

MeSH terms

  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / genetics*
  • Cystic Fibrosis / psychology
  • Genetic Carrier Screening / methods*
  • Genetic Testing / methods*
  • Health Knowledge, Attitudes, Practice
  • Humans
  • Patient Acceptance of Health Care / psychology
  • Patient Acceptance of Health Care / statistics & numerical data
  • Patient Participation / psychology
  • Patient Participation / statistics & numerical data
  • Population Surveillance / methods