An interactive computer program can effectively educate potential users of cystic fibrosis carrier tests

Carlo Castellani, Sandra Perobelli, Vera Bianchi, Manuela Seia, Paola Melotti, Luisa Zanolla, Baroukh Maurice Assael, Faustina Lalatta

Research output: Contribution to journalArticlepeer-review


The demand for cystic fibrosis (CF) carrier testing is steadily growing, not only from individuals with raised a priori carrier risk, but also from the general population. This trend will likely exceed the availability of genetic counselors, making it impossible to provide standard face-to-face genetic counseling to all those asking for the test. In order to reduce the time needed to educate individuals on the basics of the disease, its genetic transmission, and carrier testing peculiarities, we developed an educational method based on an interactive computer program (IC). To assess the effectiveness of this program and to compare it to a classical genetic counseling session, we conducted a comparative trial. In a population setting of people undergoing assisted reproduction, 44 individuals were randomly assigned to either receiving standard one-on-one genetic counseling or education by the IC program. We measured pre- and post-intervention knowledge about CF genetic transmission and carrier testing. Starting from an equivalent baseline of correct answers to a specially designed multiple-choice questionnaire (47% in the counselor group and 45% in the computer group) both groups showed a highly significant and similar increase (reaching 84% in the counselor group and 85% in the computer group). The computer program under evaluation can successfully educate individuals considering genetic testing for CF.

Original languageEnglish
Pages (from-to)778-785
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
Publication statusPublished - Apr 2011


  • Carrier testing
  • Computer-assisted education
  • Cystic fibrosis
  • Genetic counseling

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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