Parents of children who are undergoing genomic testing for child interstitial or diffuse lung disease (chILD) need more information regarding confidentiality and privacy of their data, as well as updates throughout the process whenever delays in receiving a result will be encountered. These were among study findings recently published in the journal BMJ Open Respiratory Research.
The current study is part of chILDRANZ, an evaluation of whole exome sequencing for children with chILD that aims to identify benefits of genomic sequencing for these children as well as the impact of genomic testing on patients’ health care. The current analysis focused on the psychosocial aspects of genomic sequencing from the perspective of parents.
The objectives of the current study were to explore parents’ and children’s health-related quality of life (HRQoL), parents’ perceived understanding of a genomic testing study, families’ satisfaction with the information provided to them and with the actual study, and families’ decisional regret to engage in genomic testing. Children were eligible for testing if they had diagnosed or suspected chILD.
A total of 34 parents of children with diagnosed or suspected chILD who were enrolled in chILDRANZ were sent a baseline survey (T1) just prior to genomic testing; 58.8% (19 of 34) of these parents returned a completed questionnaire. Following completion of the genomic testing results, these 34 parents were then invited to complete a follow-up questionnaire (T2), with 50.0% (17 of 34) of them returning a completed questionnaire.
Overall, 14 parents completed both the T1 and the T2 questionnaires. Among parents responding to the T1, 84% (16 of 19) were mothers. The affected children were mostly male (58%; 11 of 19) and aged 0 to 12 years (53%; 10 of 19).
Results of the study showed that parents’ HRQoL was lower than that of population norms. Parents’ perceived understanding of the study at T2 and study satisfaction at T1 were positively correlated (P =.014). Decisional regret at T2 and satisfaction with information at T1 and T2 were negatively correlated (T1: P =.01; T2: P =.03). Comments from parents with respect to dissatisfaction with the study showed that lack of communication was the most common complaint. The parents indicated that they wanted to be apprised of delays in receiving test results. They also wished to receive more information about the confidentiality of the test results.
Limitations of the current study include the small sample size. Larger longitudinal research is warranted, given that a greater proportion of participants appeared to report understanding aspects of the study “well” or “very well” at T1 compared with T2.
The investigators concluded that providing parents with clear, concise information about genetic testing, including what happens to genetic data, possible wait times, and implications for insurance, may help parents experience greater satisfaction with their decision to enroll their child in a genomic testing study. During the pretest consultation with a genetic counselor, information about privacy and confidentiality should be discussed with parents.
Kelada L, Wakefield C, Vidic N, et al. Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life. BMJ Open Respir Res. 2022;9(1):e001139. doi:10.1136/bmjresp-2021-001139