PT  - JOURNAL ARTICLE
AU  - Lauren Kelada
AU  - Claire Wakefield
AU  - Nada Vidic
AU  - David S Armstrong
AU  - Bruce Bennetts
AU  - Kirsten Boggs
AU  - John Christodoulou
AU  - Joanne Harrison
AU  - Gladys Ho
AU  - Nitin Kapur
AU  - Suzanna Lindsey-Temple
AU  - Tim McDonald
AU  - David Mowat
AU  - André Schultz
AU  - Hiran Selvadurai
AU  - Andrew Tai
AU  - Adam Jaffe
TI  - Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life
AID  - 10.1136/bmjresp-2021-001139
DP  - 2022 Feb 01
TA  - BMJ Open Respiratory Research
PG  - e001139
VI  - 9
IP  - 1
4099  - http://bmjopenrespres.bmj.com/content/9/1/e001139.short
4100  - http://bmjopenrespres.bmj.com/content/9/1/e001139.full
SO  - BMJ Open Resp Res2022 Feb 01; 9
AB  - Objective Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease (chILD). We explored parent’s and child’s health-related quality of life (HRQoL), parents’ perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing.Methods Parents of children with diagnosed or suspected chILD who were enrolled in a genomic sequencing study were invited to complete questionnaires pretesting (T1) and after receiving the result (T2).Results Parents’ (T1, n=19; T2, n=17) HRQoL was lower than population norms. Study satisfaction (T1) and perceived understanding (T2) were positively correlated (rs=0.68, p=0.014). Satisfaction with information (T1 and T2) and decisional regret (T2) were negatively correlated (T1 rs=−0.71, p=0.01; T2 rs=−0.56, p=0.03). Parents reported wanting more frequent communication with staff throughout the genomic sequencing study, and greater information about the confidentiality of test results.Conclusions Understanding of genomic testing, satisfaction with information and participation and decisional regret are inter-related. Pretest consultations are important and can allow researchers to explain confidentiality of data and the variable turnaround times for receiving a test result. Staff can also update parents when there will be delays to receiving a result.Data are available on reasonable request. Deidentified participant data are available from the corresponding author (https://orcid.org/0000-0001-9428-8807) on reasonable request.