Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

Lauren Kelada; Claire Wakefield; Nada Vidic; David S Armstrong; Bruce Bennetts; Kirsten Boggs; John Christodoulou; Joanne Harrison; Gladys Ho; Nitin Kapur; Suzanna Lindsey-Temple; Tim McDonald; David Mowat; André Schultz; Hiran Selvadurai; Andrew Tai; Adam Jaffe

doi:10.1136/bmjresp-2021-001139

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 Feb;9(1):e001139. doi: 10.1136/bmjresp-2021-001139.

Authors

Lauren Kelada^{1

2}, Claire Wakefield^{3

2}, Nada Vidic², David S Armstrong^{4

5}, Bruce Bennetts^{6

7

8}, Kirsten Boggs^{9

10

11}, John Christodoulou^{6

12

13}, Joanne Harrison^{13

14

15}, Gladys Ho^{6

7}, Nitin Kapur^{16

17}, Suzanna Lindsey-Temple^{2

18}, Tim McDonald¹⁹, David Mowat^{2

11}, André Schultz^{20

21

22}, Hiran Selvadurai^{23

24}, Andrew Tai^{25

26}, Adam Jaffe^{2

27}

Affiliations

¹ Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia [email protected].
² School of Clinical Medicine, UNSW Medicine & Health, UNSW, Sydney, New South Wales, Australia.
³ Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.
⁴ Department of Respiratory Medicine, Monash Children's Hospital, Melbourne, Victoria, Australia.
⁵ Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
⁶ Discipline of Genetic Medicine and Discipline of Child & Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
⁷ Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁸ KidGen Collaborative, Australian Genomics Health Alliance, Parkville, Victoria, Australia.
⁹ Department of Clinical Genetics, Sydney Children's Hospital Network, Westmead, New South Wales, Australia.
¹⁰ Mackenzie's Mission, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
¹¹ Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.
¹² Brain and Mitochondrial, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Victoria, Australia.
¹³ Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
¹⁴ Department of Respiratory and Sleep Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
¹⁵ Division of Infection and Immunity, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Victoria, Australia.
¹⁶ Department of Respiratory and Sleep Medicine, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
¹⁷ School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
¹⁸ Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.
¹⁹ Paediatrics, Canberra Hospital, Canberra, Australian Capital Territory, Australia.
²⁰ Department of Respiratory and Sleep Medicine, Perth Children's Hospital, Perth, Western Australia, Australia.
²¹ Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia, Perth, Western Australia, Australia.
²² Wal-yan Respiratory Research Centre, Telethon Kids Institute, University of Western Australia, Nedlands, Western Australia, Australia.
²³ Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
²⁴ Discipline of Paediatrics and Child Health, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
²⁵ Respiratory and Sleep Medicine, Women's and Children's Hospital Adelaide, North Adelaide, South Australia, Australia.
²⁶ Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.
²⁷ Respiratory Department, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.

Abstract

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 (r_s=0.68, p=0.014). Satisfaction with information (T1 and T2) and decisional regret (T2) were negatively correlated (T1 r_s=-0.71, p=0.01; T2 r_s=-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.

Keywords: paediatric lung disaese; rare lung diseases.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Child
Genetic Testing
Humans
Lung Diseases*
Parents
Personal Satisfaction
Quality of Life*