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

DTC: Direct-to-consumer.

^†Question 1: I would get tested before pregnancy for conditions other than cystic fibrosis (through regular healthcare).
^†Question 2: I would get tested for carrier status of conditions other than cystic fibrosis through the Internet.

Authors and Disclosures

Sandra Janssens*^,1, Louiza Kalokairinou², Davit Chokoshvilli^{1 ,2}, Carmen Binst³, Inge Mahieu³, Lidewij Henneman⁴, Anne De Paepe¹ & Pascal Borry²

¹Centre for Medical Genetics, Ghent University Hospital, Ghent, De Pintelaan 185, 9000 Ghent, Belgium
²Centre for Biomedical Ethics & Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer 35 BOX 7001 3000 Leuven, Belgium
³Department of Life Sciences & Medicine, University of Ghent, Ghent, Belgium
⁴Community Genetics Section, Department of Clinical Genetics, EMGO Institute for Health & Care Research, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands

*Author for correspondence
Tel.: +32 332 3603 Fax: +32 332 4970 sandra.janssens@ugent.be

Financial & competing interests disclosure
This research was supported by the Clinical Research Fund UZ Ghent and the Research Fund Flanders. LH is affiliated to a hospital that offers a cystic fibrosis carrier test on their website. She received a grant by the Netherlands Organisation for Health Research and Development to study public interest in this test. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
No writing assistance was utilized in the production of this manuscript.

Sidebar

Executive Summary

• We have assessed the attitudes of adult patients and parents of children with cystic fibrosis (CF) towards direct-to-consumer (DTC) genetic testing that aim at identifying carriers of autosomal recessive disorders.

• Study population comprised 134 individuals (both parents and adult patients) selected from a CF patient registry in Belgium.

• Prior to participating in our survey, less than 20% of patients and parents were aware of the fact that commercial companies offer DTC carrier screening tests through the Internet.

• Fifty-nine percent of study participants believe people should have a right to access DTC genetic tests provided by commercial companies.

• However, personal attitudes toward DTC genetic testing were negative. Less than 10% of the participants would themselves choose to take a carrier tests for conditions other than CF through a commercial company.

• Willingness to undergo carrier screening test for recessive conditions was considerably higher (54%) among study participants, should such a test be offered though the regular healthcare services.