J Pediatr Genet
DOI: 10.1055/s-0040-1721439
Original Article

Genetic Testing in the Pediatric Nephrology Clinic: Understanding Families' Experiences

Suzanne M. Nevin
1  School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales Sydney, Australia
2  Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, Australia
,
Jordana McLoone
1  School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales Sydney, Australia
2  Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, Australia
,
Claire E. Wakefield
1  School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales Sydney, Australia
2  Behavioural Sciences Unit, Kids Cancer Centre, Sydney Children's Hospital, Randwick, Australia
,
Sean E. Kennedy
1  School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales Sydney, Australia
3  Department of Nephrology, Sydney Children's Hospital, Randwick, New South Wales, Australia
,
Hugh J. McCarthy
1  School of Women's and Children's Health, University of New South Wales Medicine, University of New South Wales Sydney, Australia
3  Department of Nephrology, Sydney Children's Hospital, Randwick, New South Wales, Australia
› Author Affiliations

Abstract

Genomics is rapidly being integrated into the routine care of children and families living with renal disease, principally as a diagnostic tool but also to direct therapy, identify at-risk relatives, and facilitate family planning. However, despite significant progress in understanding the genetic heterogeneity of inherited renal disease, the impact of genetic testing on parents and families of affected children is not well understood. This study aimed to investigate the experiences of families undergoing genetic testing, the psychosocial impact of receiving a genetic test result, and parent information and support needs. In-depth semistructured interviews were conducted with 26 parents of pediatric patients (<18 years of age) who had undergone genomic investigation for a suspected genetic renal disease at two tertiary pediatric nephrology services. Interviews were transcribed verbatim, coded, using NVivo software, and thematic analysis was undertaken. Key themes included emotional adjustment to a genetic diagnosis, the importance of parent-provider relationships, empowerment through social connection, and the value of family-centered care. Results highlighted the wide-ranging psychosocial impact of genetic testing on parents, as well as the importance of patient-support networks in enabling parents/families to cope and adapt. Targeted approaches to enhance communication of genetic information and the development of tailored resources to address parents' genetics and health service needs may lead to more satisfactory experiences of genetic testing.

Sources of Support

The authors acknowledge the support of the Maridulu Budyari Gumal, The Sydney Partnership for Health, Education, Research & Enterprise (SPHERE) Kids to Adults (K2A) Clinical Academic Group. This work was supported by Luminesce Alliance—Innovation for Children's Health Luminesce Alliance—Innovation for Children's Health, is a not for profit cooperative joint venture between the Sydney Children's Hospitals Network, the Children's Medical Research Institute, and the Children's Cancer Institute. The Behavioral Sciences Unit at Sydney Children's Hospital is supported by the Kids with Cancer Foundation.


Supplementary Material



Publication History

Received: 23 September 2020

Accepted: 15 October 2020

Publication Date:
15 December 2020 (online)

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