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

Disclosures

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

In This Article

Results

The total study population comprised 157 individuals, including both patients and parents. Among these, there were six pairs of siblings under the age of 16 years, whose parents were given only one questionnaire per sibling-pair. Overall, a total of 25 potential participants were excluded. Of the excluded individuals, nine persons (four parents and five CF patients aged 16 years or older) could not be reached within the time frame of the study, six parents of children with CF insufficiently understood the Dutch language, five CF patients aged 16 years and older had intellectual disability and two parents of CF patients had mental retardation. Two CF patients under the age of 16 years were accompanied by their non-biological parents, who were also excluded. A total of 134 questionnaires were distributed of which 112 were returned. Of the 75 questionnaires provided to the parents, 65 were completed (response rate 86.7%). Upon conclusion of the survey, an additional questionnaire was excluded from the analysis because it had been completed incorrectly by the participant. Of the questionnaires distributed to the CF patients aged 16 years and older, 47 (out of 59) were completed (response rate 79.7%). Participant characteristics are given in Table 1.

Attitudes Towards DTC Genetic Testing

In our study population, 78.3% of the patients with CF and 87.1% of the parents had no preexisting knowledge of the availability of DTC genetic testing for carrier status of genetic diseases through the Internet. Of the total survey population, 59.3% believe that people have the right to self-initiate a request for a DTC genetic test through a commercial company (Table 2). Within this group, 57.1% of participants are of the opinion that the results of such a test should not be communicated without counseling by a physician. 23.8% believe one should be able to obtain results without explanations from a medical professional and 19.0% of participants selected 'neither agree nor disagree'. 69.1% of the total study population believe that all doctors have an obligation to answer questions from patients who self-initiated a DTC genetic test through the Internet, 10% disagree and 20.9% neither agree nor disagree.

Among the participants, 40.7% indicated that parents have the right to test their children for carrier status for all kinds of diseases through DTC genetic testing companies.

A correlation was found between participants who feel that one has the right to self-initiate requests for DTC genetic tests to determine carrier status through a commercial company and the right to test their children for all kinds of genetic disorders using such a test (Chi-squared test p < 0.001, Spearman's rank correlation coefficient (rs) = 0.402). The positive value of the Spearman's correlation coefficient indicates that the respondents who support the right to order carrier tests from commercial providers are also likely to favor testing of children for carrier status by their parents.

A total of 41.3% of the participants believe the law should forbid genetic testing to be offered through commercial companies. Within this group, 61.4% think that it should also be prohibited by law to offer genetic tests on a hospital website, 11% believe it should be allowed and 2.73% neither agree nor disagree. By means of the Spearman's correlation coefficient (rs = -0.426) and the Chi-squared test (p < 0.05), a correlation was found between both groups. Surprisingly, a significant correlation was found between those who believe that the law should forbid genetic testing to be offered through commercial companies and those who believe that people have the right to initiate requests for DTC genetic tests through a commercial company (X2, p < 0.001, rs = -0.354).

In the entire study population, 7.3% would get tested through the Internet for diseases other than CF, 77.1% would not, and 15.6% did not know.

Finally, we investigated whether participants who would get tested for conditions other than CF within the standard healthcare setting, would also get tested through the Internet (rs = 0.115). As shown in Table 3, 53.1% of the parents and 59.1% of the patients would undergo carrier screening for conditions other than CF before pregnancy through standard healthcare channels. Within this group, 18.2% of the parents and 4% of the patients would access a screening test for conditions other than CF through the Internet. 60.6% of the parents and 84% of the patients, who would get tested for conditions other than CF through standard healthcare services, would not opt for a DTC genetic test through the Internet for those conditions. 18.8% of parents and 14.9% of patients would not access testing for other conditions before pregnancy through either standard healthcare, or via the Internet. No difference could be found between the attitudes of the parents and patients.

Due to the relatively small sample size, we did not investigate whether demographic factors such as religion, gender, or education influenced participants' attitudes.

processing....