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

Abstract and Introduction


Background An increasing number of direct-to-consumer (DTC) genetic testing companies have started offering tests for carrier status of autosomal recessive disorders.

Materials & Methods A written questionnaire was administered to 47 patients and 65 parents of children with Cystic Fibrosis (CF), a common severe autosomal recessive disorder, to assess their views about the offer of DTC carrier tests. All participants were recruited from a CF patient registry in Belgium.

Results & Conclusion We found that very few patients and parents were aware of the offer of DTC genetic testing for carrier status, and were generally skeptical. A strong preference for the healthcare system over commercial companies as the provider of the test was observed. However, many participants believe people should have a right to access DTC genetic tests provided by commercial companies.


Cystic fibrosis (CF) is a common severe autosomal recessive disorder mostly affecting people of Northern European ancestry. The prevalence of CF is estimated at 1 per 2500–4000 live births and the carrier frequency is approximately 1 in 25 to 1 in 30.[1] If both parents are carriers, there is a 1-in-4 chance that each child of the couple will be affected by CF. The gene responsible for the disease was identified in 1989,[2] which made carrier testing for CF possible. While carrier testing can be performed at any stage in life, it has been suggested that the procedure offers most benefits to couples considering a pregnancy (preconception screening).[3] Informing prospective parents about their likelihood of having a child with CF allows these couples to make informed reproductive decisions.[4] The options available to couples identified as carriers include selection of healthy embryos using preimplantation genetic diagnosis, or prenatal diagnosis with the potential for termination of pregnancy. Alternatively, carrier couples may instead choose to accept the risk and conceive naturally, avoid pregnancy altogether, use egg or sperm donation, or adopt a child.

Even though population-based carrier screening for CF has been discussed since the early 1990s, as of 2013, very few countries offered fee-for-service carrier screening for CF to the population.[5] Despite the absence of CF screening programs in many countries, individuals without a family history for the condition seeking carrier screening for CF can order the test also outside the traditional healthcare setting, through direct-to-consumer (DTC) genetic testing companies. DTC genetic testing companies market and sell, among other services, genetic tests for various monogenic and complex disorders directly to consumers. The service is usually provided through the Internet and without the involvement of a licensed healthcare provider.[6] The UK Human Genetics Commission extended the scope of DTC genetic testing to include tests that are 'commissioned by the consumer but where a medical practitioner or health professional is involved in the provision of the service'.[7] This definition encompasses genetic tests provided under the new model increasingly applied by DTC companies, which requires consumers to contact a healthcare provider for gaining access to the test or the test results.[8]

Even though DTC genetic tests have been promoted by some companies as empowering consumers to make informed healthcare decisions, increasing autonomy and safeguarding the right to genetic information, this new delivery model is also a source of great concern among scholars, policy makers and professional organizations.[9,10] Opponents of DTC genetic testing have raised concerns regarding the uncertain clinical validity and utility of the tests and the often inadequate and misleading information provided along with such services.[11] Furthermore, it has been claimed that the dubious quality or absence of pre- and post-test genetic counseling and medical supervision outside the hospital setting could have a negative impact on health decisions and may lead to unnecessary visits to medical professionals, overburdening the healthcare system.[10] Additional concerns are raised by the DTC offer of preconception carrier tests including a broad panel of diseases,[12] some of which fail to meet generally accepted criteria of screening programs.[13] This is because such panels may include diseases that are amenable to treatment, mild phenotypes or screen for mutations of limited pathogenicity.[12]

Issues regarding the ethical and legal implications of DTC genetic testing have been widely discussed over the past few years and numerous surveys have been conducted. Most of these studies have taken place in the USA,[14–16] and the main focus of the literature has been on the attitudes of users,[17–19] and, to a lesser extent, those of healthcare providers[20–22] and the general population.[23,24] In contrast, as far as we know, no studies have explored the attitudes of patients and their parents towards DTC genetic carrier testing. Most previous studies addressing their attitudes have assessed their opinions on 'traditional' CF carrier screening programs.[25] Given that DTC preconception carrier testing may significantly influence the reproductive choices of consumers, it is important to examine the moral acceptability of such tests and their potential impact on public health. Therefore, exploring the attitudes of patients with autosomal recessive disorders and their parents may provide valuable insight into this debate on both the normative and the regulatory levels.

The present study was undertaken at the University Hospital Ghent, Belgium, with the aim of investigating the views and attitudes of adult patients (16 years and above) and parents of children with CF regarding preconception carrier screening for autosomal recessive disorders through DTC genetic tests.