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


The principal finding of our study is that many participants, despite being directly affected by an autosomal recessive genetic disorder, were skeptical of DTC genetic carrier testing in general and, in particular, in the out-of-hospital setting. For example, regarding offering DTC genetic tests through the Internet, a substantial number of participants believe this practice should be prohibited by law. Furthermore, only 17.2% of parents and 13.3% of patients believed that the benefits of a DTC genetic test for carrier status outweigh the potential risks. Such negative attitudes can partly be attributed to the limited awareness of DTC genetic testing among the study participants. Although efforts were made to elucidate key aspects of DTC genetic testing within the questionnaire and all participants had an opportunity to address our research team for additional explanations, the novelty of the concept to some participants may have nevertheless contributed to the overall negative perception of DTC genetic testing. Low awareness of DTC genetic testing has also been reported previously by several other studies. For instance, in a US-based survey conducted in 2008 by Kolor et al.,[26] the level of awareness for personal genome testing only reached 22%, while in a study performed in the UK in the same year, just 13% of the studied population was familiar with such tests.[27]

Our study also found that both parents and patients would prefer to undergo a carrier screening test in the healthcare setting rather than receiving testing through DTC genetic testing companies. Only a small minority of participants (9.5% of parents and 4.3% of patients) would choose to purchase a carrier screening test from commercial providers through the Internet. Contrary to this, the majority (53.1% of the parents and 59.1% of the patients) indicated that should similar tests be provided through standard healthcare channels, they would opt for the test. Arguably, the greater willingness to access the test through healthcare among study participants can largely be explained by CF patients' and parents' familiarity with, and trust in healthcare services. Individuals' preferences between healthcare and commercial companies as providers of genetic testing have not been explored sufficiently in the literature. In this paper we report preferences among CF patients and parents who had limited awareness of commercial DTC genetic testing and extensive personal experience with healthcare services. It would be desirable if future studies explored similar preferences among other stakeholders such as, for example, individuals who have taken a commercial DTC genetic test.

Interestingly, most patients and parents in our study population indicated that individuals have the right to request a genetic test through a DTC genetic testing company, even when they were of the opinion that DTC genetic tests should be prohibited by law. Although appearing contradictory, these responses may illustrate two important sentiments among the study participants. The first is the belief that people have a right to access their genetic information, including their carrier status for recessive disorders. Information pertaining to one's genetic make-up can be viewed as something highly personal for many people and they may consider it important to have access to this kind of information upon request.[28] The second sentiment reflects the lack of trust in DTC genetic testing companies coupled with generally negative attitudes towards DTC genetic tests for carrier status, as previously discussed. Regarding the apparent contradiction between the two responses, it is likely that some of the participants were in favor of prohibiting DTC genetic testing in its current form (i.e., through the Internet and without adequate involvement of medical professionals), but were not against the practice in principle.

Despite the fact that the majority of participants perceived consumers to have the right to directly access genetic tests, 57.1% of those who agreed with this statement also believed that genetic counseling should always accompany the communication of tests results. The high importance our participants attach to the traditional physician-centered model is not surprising, taking into account that as patients, or parents of patients, they are rather familiar with this system and seem to value it highly. Placing increased importance on genetic counseling does not seem to be a characteristic of only patients and their families. Our finding is in line with evidence presented by numerous surveys conducted in healthy potential consumers of DTC genetic tests, in whom most would feel the need to share the test results with a healthcare professional.[27,29] In addition, a survey by Brett et al.[30] regarding the experience of healthcare professionals with DTC genetic testing, also supports these findings, by reporting that 80% of patients having undertaken DTC genetic testing consulted a physician on their test results.

The consumers' desire for medical professionals to provide consultation on their results seems to be supported by the view that healthcare professionals actually have an obligation to counsel patients when it comes to DTC genetic testing. A large majority (69.1%) of the participants in our study were of the opinion that every doctor should be willing to provide medical advice to patients who have taken the initiative to use DTC genetic tests. Similar findings were presented in the study by McGuire et al.,[23] where 61% of the participants also stated that consulting patients on genetic test results constitutes a professional obligation for physicians. On the other side of the spectrum, several surveys indicate that healthcare professionals seem to also consider it to be their professional obligation to provide counseling regarding test results.[20,22] However, an important caveat regarding counseling on genetic tests by physicians is that not all medical professionals may be sufficiently informed about DTC genetic testing and thus they might not be in a position to provide high-quality counseling to the patients. Better physician education is necessary to ensure that the patients receive adequate information on their test results.

Regarding DTC genetic testing in children, 40% of the participants agreed that parents have the right to test their children for carrier status. This finding might indicate that parents perceive testing their children for carrier status as an expression of their right to make healthcare decisions for their children, as well as an assertion of the right to access DTC genetic testing and genetic information. In this regard, a correlation was found between those who felt that undergoing DTC genetic testing is a right and those who agreed that it is a parental right to have their children tested through such tests. Similar findings were reported in the study by McGuire et al.,[23] where 63% of the participants believed that parents should be able to test their children through DTC genetic tests.

Nevertheless, the participants' belief that testing children falls within the scope of their parental rights, clashes with several professional guidelines and recommendations on pediatric genetic testing. As observed in a systematic review of guidelines and position papers regarding carrier testing in minors, by Borry et al.,[31] all guidelines reviewed discourage children from undergoing carrier testing. This critical approach towards undergoing genetic testing for carrier status during childhood is based on the possible violation of some of the minor's most fundamental rights in this context. As underlined by the British Society of Human Genetics, carrier tests with predominantly reproductive implications, if taken prematurely and without compelling reasons, might deprive children of their right to make autonomous healthcare decisions in the future.[32] Furthermore, informed consent cannot be ensured if the person tested does not have a complete understanding of the risks and benefits of the tests, which should be performed voluntarily and without any form of external pressure. In addition, given the sensitive nature of information revealed by such tests, a carrier status test performed in childhood might infringe the child's right to confidentiality and privacy, as well as the right not to know.[31]