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


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

In This Article


Although there are eight reference centers in Belgium for patients with CF, participants for the present study were recruited from a single CF patient register at one university hospital. Limiting the scope of the study to a single medical center increased the ease with which preparation and administration of the survey could be conducted without significantly compromising the sample size. On the other hand, focusing on a single center may have resulted in a geographically uniform sample with few participants coming from other parts of Belgium. The findings of the present study, therefore, cannot be readily generalized to a larger population.

A great majority of the study participants (78.3% of the patients with CF and 87.1% of the parents) had never heard of DTC genetic testing for carrier status through a commercial provider. Although efforts were made to elucidate all relevant concepts within the questionnaire, the novelty of the practice to most participants may have been partly responsible for the generally negative attitudes toward DTC genetic testing.

Finally, it is likely that the attitudes of CF patients and parents towards carrier screening for autosomal recessive conditions may be largely shaped by personal experience with the disease, such as individual medical history, perception of the disease severity, and prognosis. We believe it would be valuable to explore influence of such personal factors through a qualitative study, such as in-depth interviews. This, however, was not feasible within the scope of the present study.