Attitudes of Cystic Fibrosis Patients and Their Parents Towards Direct-to-Consumer Genetic Testing for Carrier Status

Sandra Janssens; Louiza Kalokairinou; Davit Chokoshvilli; Carmen Binst; Inge Mahieu; Lidewij Henneman; Anne De Paepe; Pascal Borry

Disclosures

Personalized Medicine. 2015;12(2):99-107. 

In This Article

Materials & Methods

Research Setting

Parents of children affected by CF and patients aged 16 years and older were asked to complete a questionnaire assessing their attitudes regarding preconception carrier screening for CF.

The study population was recruited from a register of 157 patients with CF who consulted at least once in 3 months at the Department of Pneumology at the University Hospital of Ghent, where one of the eight Belgian reference centers for CF is located. All CF patients aged 16 years and older who attended the clinic in the period from August to December 2012 were invited to participate. In case of patients aged under 16 years, their parents were asked to fill out the questionnaire. An envelope including an information letter, an informed consent form, a questionnaire and a reply envelope was personally handed to the potential participants by the nurse at the clinic. Completed questionnaires were separated from written consents to guarantee anonymity. An approval from the local Institutional Review Board was obtained.

Questionnaire

This research is part of a larger study involving not only the investigation of the attitudes towards DTC testing, but also the attitudes toward preconception carrier screening for cystic fibrosis and related reproductive choices.

A questionnaire comprising a series of closed questions, binary questions, multiple-choice questions and Likert scale questions was developed. The questionnaire was pilot-tested by several specialists, researchers, a CF patient and her parents. Completing the questionnaire took approximately 20 min

In order to ensure understandability of the content to the participants, all key concepts were explained and reader-friendly clarifications were provided within the questionnaire. In addition, carrying out the survey in a clinical setting provided participants with an opportunity to address members of our research team for any further explanations.

The questionnaire was divided into multiple sections. First, sociodemographic characteristics of the participants were assessed, including age, sex, religious beliefs and highest level of education. The following sections addressed study participants' personal experience with CF, attitudes toward carrier screening for CF, previous and intended reproductive behaviors, as well as stance on prenatal diagnosis and termination of pregnancy. The next section assessed the attitudes toward preconception carrier screening for CF. The remainder of the questionnaire was devoted to exploring awareness of, and attitudes towards DTC genetic testing among study participants. The present paper focuses on this final component of the survey.

Data Analysis

Data were analyzed using SPSS21 for Windows. The 5-point scales were reduced to three categories to avoid empty or small cells. Responses 'fully disagree' and 'disagree' as well as responses 'agree' and 'fully agree' were combined to form 'disagree' and 'agree', respectively. The third category was 'Neither agree nor disagree.' Level of education was also recoded to three categories: 'Primary education', 'Secondary education' and 'Higher education.' Age was divided into three groups: <26 years, 26–35 years and ≥36 years.

Statistical significance was determined using nonparametric tests (Spearman's rank correlation coefficient, Chi-squared test, Fisher's exact test).

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