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

Abstract

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.

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In‐Person Genetics Education: A Randomized Controlled Trial

“…We based the content of our online tool on the IC module by Castellani et al (2010) and on personal experience, while following recommendations from the MUHC Education Portfolio (a hospital-based department specialized in producing effective patient education materials; Olivier et al 2008;Thomas 2010). Texts and images for the IC tool were created using plain, value-neutral and person-first language.…”

“…To ensure that users are well-informed before consenting to genetic testing, each topic ends with a series of quiz questions that must be answered correctly before continuing. Like the rest of the module, quiz questions were inspired by Castellani et al (2010) and personal experience. They were reviewed by members of our team and by a representative of the MJHDF.…”

“…An NI margin of 5% was based on clinical judgment. There is a paucity of RCTs with a pre-post design evaluating IC modules (Castellani et al 2010;Gason et al 2005;Green et al 2001a [which actually did not use a pre-post design but had a third arm where baseline knowledge was assessed and used as a substitute for pre-education measurements]; Green et al 2004), none of which were NI trials. We determined that the existing studies were insufficient to guide a mathematical NI margin, but we reviewed these papers to help guide a clinical NI margin.…”

“…On the other hand, patients may prefer in-person sessions over IC modules for psychosocial and decision-making support (Green et al 2001b;. In medical genetics, IC modules have been used to complement pre-test counseling for hereditary breast and ovarian cancer (Albada et al 2012;Green et al 2001a, b;Joseph et al 2010), cystic fibrosis carrier screening (Castellani et al 2010), and prenatal and ethnicity-based screening (Griffith et al 2005a, b;Kuppermann et al 2009;Yee et al 2014). They have also been used in high school screening programs for TSD among AJ teenagers (Gason et al 2004;.…”

DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome‐Wide Sequencing

“…Online, interactive pre-test decision support tools have been used successfully in other areas of healthcare and to support other kinds of genetic counselling, including for carrier testing (Castellani et al 2011;Gason et al 2004), breast cancer screening or risk reduction (Green et al 2005;Rupert et al 2013), and prenatal testing (Kuppermann et al 2009;Yee et al 2014).…”