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

Child Genetic Testing Humans Lung Diseases Parents Personal Satisfaction Quality of Life
paediatric lung disaese rare lung diseases

Journal

BMJ open respiratory research
ISSN: 2052-4439
Titre abrégé: BMJ Open Respir Res
Pays: England
ID NLM: 101638061

Informations de publication

Date de publication:
02 2022
Historique:
received: 09 11 2021
accepted: 02 02 2022
entrez: 22 2 2022
pubmed: 23 2 2022
medline: 24 3 2022
Statut: ppublish

Résumé

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. 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). Parents' (T1, n=19; T2, n=17) HRQoL was lower than population norms. Study satisfaction (T1) and perceived understanding (T2) were positively correlated (r 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.

Identifiants

DOI: 10.1136/bmjresp-2021-001139 PMID: 35190460 PMC: PMC8862491
pubmed: 35190460
pii: 9/1/e001139
doi: 10.1136/bmjresp-2021-001139
pmc: PMC8862491
pii:
doi:

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

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Auteurs

Lauren Kelada (L)

Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia l.kelada@unsw.edu.au.
School of Clinical Medicine, UNSW Medicine & Health, UNSW, Sydney, New South Wales, Australia.
ORCID: 0000-0001-9428-8807

Claire Wakefield (C)

Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.
School of Clinical Medicine, UNSW Medicine & Health, UNSW, Sydney, New South Wales, Australia.

Nada Vidic (N)

School of Clinical Medicine, UNSW Medicine & Health, UNSW, Sydney, New South Wales, Australia.

David S Armstrong (DS)

Department of Respiratory Medicine, Monash Children's Hospital, Melbourne, Victoria, Australia.
Department of Paediatrics, Monash University, Melbourne, Victoria, Australia.
ORCID: 0000-0002-5933-705X

Bruce Bennetts (B)

Discipline of Genetic Medicine and Discipline of Child & Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
KidGen Collaborative, Australian Genomics Health Alliance, Parkville, Victoria, Australia.

Kirsten Boggs (K)

Department of Clinical Genetics, Sydney Children's Hospital Network, Westmead, New South Wales, Australia.
Mackenzie's Mission, Australian Genomics Health Alliance, Melbourne, Victoria, Australia.
Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.

John Christodoulou (J)

Discipline of Genetic Medicine and Discipline of Child & Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Brain and Mitochondrial, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

Joanne Harrison (J)

Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Department of Respiratory and Sleep Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.
Division of Infection and Immunity, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Victoria, Australia.

Gladys Ho (G)

Discipline of Genetic Medicine and Discipline of Child & Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

Nitin Kapur (N)

Department of Respiratory and Sleep Medicine, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
School of Medicine, University of Queensland, Brisbane, Queensland, Australia.

Suzanna Lindsey-Temple (S)

School of Clinical Medicine, UNSW Medicine & Health, UNSW, Sydney, New South Wales, Australia.
Department of Clinical Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.

Tim McDonald (T)

Paediatrics, Canberra Hospital, Canberra, Australian Capital Territory, Australia.

David Mowat (D)

School of Clinical Medicine, UNSW Medicine & Health, UNSW, Sydney, New South Wales, Australia.
Centre for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.

André Schultz (A)

Department of Respiratory and Sleep Medicine, Perth Children's Hospital, Perth, Western Australia, Australia.
Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia, Perth, Western Australia, Australia.
Wal-yan Respiratory Research Centre, Telethon Kids Institute, University of Western Australia, Nedlands, Western Australia, Australia.

Hiran Selvadurai (H)

Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
Discipline of Paediatrics and Child Health, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.

Andrew Tai (A)

Respiratory and Sleep Medicine, Women's and Children's Hospital Adelaide, North Adelaide, South Australia, Australia.
Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

Adam Jaffe (A)

School of Clinical Medicine, UNSW Medicine & Health, UNSW, Sydney, New South Wales, Australia.
Respiratory Department, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Genomic testing for children with interstitial...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Genomic testing for children with interstitial...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Genomic testing for children with interstitial...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Maladies pulmonaires › Genomic testing for children with interstitial...
questionsmedicales.fr › Personnes › Parents › Genomic testing for children with interstitial...
questionsmedicales.fr › Comportement et mécanismes comportementaux › Comportement › Satisfaction personnelle › Genomic testing for children with interstitial...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Mesures épidémiologiques › Démographie › État de santé › Qualité de vie › Genomic testing for children with interstitial...