Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation
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ORIGINAL ARTICLE
Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation Kim C. A. Holtkamp 1,2,3 & Lidewij Henneman 1,2,3 Phillis Lakeman 3,4
1
& Johan J. P. Gille & Hanne Meijers-Heijboer
1,3,4
& Martina C. Cornel
1,2,3
&
Received: 5 April 2018 / Accepted: 11 September 2018 # The Author(s) 2018
Abstract A Dutch university hospital started offering cystic fibrosis (CF) carrier screening directly to consumers (DTC) through their website in 2010. A 6-year process evaluation was conducted to evaluate the offer. Screening was implemented as intended. However, uptake was lower than expected. Forty-four tests have been requested, partly by couples with a positive family history for CF, which was not the intended target group. Users were generally positive about the screening offer, citing accessibility, ease of testing, anonymity, and perceived shortcomings of regular healthcare as reasons for requesting screening. DTC CF carrier screening via a university hospital website is feasible, but is seldom used. Considering technological advances, continuation of this specific offer is questionable. Keywords Carrier screening . Cystic fibrosis . Direct-to-consumer . Website . Evaluation . Preconception
Introduction Cystic fibrosis (CF) is the most common autosomal recessive disorder among people of Northern European ancestry, with an overall carrier frequency of 1 in 25–30, and a birth prevalence of 1 in 2500–3600 (Massie and Delatycki 2013; Maxwell et al. 2011). Carrier screening aims to identify carrier couples who face a 1-in-4 risk of having affected offspring in Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12687-018-0388-y) contains supplementary material, which is available to authorized users. * Lidewij Henneman [email protected] 1
Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands
2
Amsterdam Public Health Research Institute, Amsterdam, The Netherlands
3
Amsterdam Reproduction and Development, Amsterdam, The Netherlands
4
Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
each pregnancy, enabling informed reproductive decisionmaking. Preconception carrier screening allows the most complete range of reproductive options including prenatal diagnosis, preimplantation genetic diagnosis, the use of donor gametes, or refraining from having children. Since the identification of the CFTR gene in the late 1980s (Riordan et al. 1989), the implementation of a populationbased CF carrier screening has been widely discussed (Beaudet 1990; Massie and Delatycki 2013). Earlier studies showed that both the public (Henneman et al. 2003; Ioannou et al. 2014; Lakeman et al. 2009; Maxwell et al. 2011) and healthcare professionals (Janssens et al. 2014) have positive attitudes towards offering screening, either before pregnancy or in the early stages thereof. Most countries however, have not implemented CF carrier screening programs in
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