Download PDF
J Pediatr Genet 2022; 11(02): 117-125
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 Funding 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.
› Further Information
    Permissions and Reprints

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.

Keywords

pediatric - genetic renal disease - psychosocial - qualitative

Supplementary Material



Publication History

Received: 23 September 2020

Accepted: 15 October 2020

Article published online:
15 December 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Fletcher J, McDonald S, Alexander SI. , Australian and New Zealand Pediatric Nephrology Association (ANZPNA). Prevalence of genetic renal disease in children. Pediatr Nephrol 2013; 28 (02) 251-256
    CrossrefPubMedGoogle Scholar
  • 2 Vivante A, Hildebrandt F. Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol 2016; 12 (03) 133-146
    CrossrefPubMedGoogle Scholar
  • 3 Bockenhauer D, Medlar AJ, Ashton E, Kleta R, Lench N. Genetic testing in renal disease. Pediatr Nephrol 2012; 27 (06) 873-883
    CrossrefPubMedGoogle Scholar
  • 4 Mansilla MA, Sompallae RR, Nishimura CJ. et al. Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases. Nephrol Dial Transplant 2019; gfz173
    PubMedGoogle Scholar
  • 5 Mallett AJ, McCarthy HJ, Ho G. et al. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney Int 2017; 92 (06) 1493-1506
    CrossrefPubMedGoogle Scholar
  • 6 Kesselheim A, Ashton E, Bockenhauer D. Potential and pitfalls in the genetic diagnosis of kidney diseases. Clin Kidney J 2017; 10 (05) 581-585
    CrossrefPubMedGoogle Scholar
  • 7 Mallett A, Corney C, McCarthy H, Alexander SI, Healy H. Genomics in the renal clinic - translating nephrogenetics for clinical practice. Hum Genomics 2015; 9 (01) 13
    CrossrefPubMedGoogle Scholar
  • 8 Tong A, Rangan GK, Ruospo M. et al. A painful inheritance-patient perspectives on living with polycystic kidney disease: thematic synthesis of qualitative research. Nephrol Dial Transplant 2015; 30 (05) 790-800
    CrossrefPubMedGoogle Scholar
  • 9 Lim Q, McGill BC, Quinn VF. et al. Parents' attitudes toward genetic testing of children for health conditions: A systematic review. Clin Genet 2017; 92 (06) 569-578
    CrossrefPubMedGoogle Scholar
  • 10 Wakefield CE, Hanlon LV, Tucker KM. et al. The psychological impact of genetic information on children: a systematic review. Genet Med 2016; 18 (08) 755-762
    CrossrefPubMedGoogle Scholar
  • 11 Hill JA, Gedleh A, Lee S, Hougham KA, Dimaras H. Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents. Eur J Hum Genet 2018; 26 (04) 505-517
    CrossrefPubMedGoogle Scholar
  • 12 McGill BC, Wakefield CE, Vetsch J. et al. “I remember how I felt, but I don't remember the gene”: Families' experiences of cancer-related genetic testing in childhood. Pediatr Blood Cancer 2019; 66 (08) e27762
    CrossrefPubMedGoogle Scholar
  • 13 Ferrell BR, Dow KH, Grant M. Measurement of the quality of life in cancer survivors. Qual Life Res 1995; 4 (06) 523-531
    CrossrefPubMedGoogle Scholar
  • 14 Okcin F, Karadakovan A. Reliability and validity of the quality of life -family version (QOL-FV) in Turkish family caregivers of patients with cancer. Asian Pac J Cancer Prev 2012; 13 (09) 4235-4840
    Google Scholar
  • 15 Hill M, Hammond J, Lewis C, Mellis R, Clement E, Chitty LS. Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges. Eur J Hum Genet 2020; 28 (11) 1529-1540
    CrossrefPubMedGoogle Scholar
  • 16 Gómez-Zúñiga B, Pulido Moyano R, Pousada Fernández M, García Oliva A, Armayones Ruiz M. The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust. Orphanet J Rare Dis 2019; 14 (01) 159
    CrossrefPubMedGoogle Scholar
  • 17 Tschamper MK, Jakobsen R. Parents' experiences of videoconference as a tool for multidisciplinary information exchange for children with epilepsy and disability. J Clin Nurs 2019; 28 (9,10): 1506-1516
    CrossrefPubMedGoogle Scholar
  • 18 van Nimwegen KJ, Kievit W, van der Wilt GJ. et al. Parental quality of life in complex paediatric neurologic disorders of unknown aetiology. Eur J Paediatr Neurol 2016; 20 (05) 723-731
    CrossrefPubMedGoogle Scholar
  • 19 Lenhard W, Breitenbach E, Ebert H, Schindelhauer-Deutscher H-J, Henn W. Psychological benefit of diagnostic certainty for mothers of children with disabilities: lessons from Down syndrome. Am J Med Genet A 2005; 133A (02) 170-175
    CrossrefPubMedGoogle Scholar
  • 20 Rantanen E, Hietala M, Kristoffersson U. et al. What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet 2008; 16 (04) 445-452
    CrossrefPubMedGoogle Scholar
  • 21 Graungaard AH, Andersen JS, Skov L. When resources get sparse: a longitudinal, qualitative study of emotions, coping and resource-creation when parenting a young child with severe disabilities. Health (London) 2011; 15 (02) 115-136
    CrossrefPubMedGoogle Scholar
  • 22 Shilling V, Morris C, Thompson-Coon J, Ukoumunne O, Rogers M, Logan S. Peer support for parents of children with chronic disabling conditions: a systematic review of quantitative and qualitative studies. Dev Med Child Neurol 2013; 55 (07) 602-609
    CrossrefPubMedGoogle Scholar
  • 23 Hennekam RC. Care for patients with ultra-rare disorders. Eur J Med Genet 2011; 54 (03) 220-224
    CrossrefPubMedGoogle Scholar
  • 24 Pinsk M, Nicholas D. Changing needs for information and support in an online system for parents of children with kidney disease. Can J Kidney Health Dis 2017; 4: 2054358117714999
    CrossrefPubMedGoogle Scholar
  • 25 Wu Y, Al-Janabi H, Mallett A. et al. Parental health spillover effects of paediatric rare genetic conditions. Qual Life Res 2020; 29 (09) 2445-2454
    CrossrefPubMedGoogle Scholar
  • 26 Hummelinck A, Pollock K. Parents' information needs about the treatment of their chronically ill child: a qualitative study. Patient Educ Couns 2006; 62 (02) 228-234
    CrossrefPubMedGoogle Scholar
  • 27 Mendes Á, Paneque M, Sousa L, Clarke A, Sequeiros J. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. Eur J Hum Genet 2016; 24 (03) 315-325
    CrossrefPubMedGoogle Scholar
  • 28 Gaff CL, Bylund Ceds. Family Communication about Genetics: Theory and Practice. NY, New York: Oxford University Press; 2010
    Google Scholar
  • 29 Heath G, Farre A, Shaw K. Parenting a child with chronic illness as they transition into adulthood: A systematic review and thematic synthesis of parents' experiences. Patient Educ Couns 2017; 100 (01) 76-92
    CrossrefPubMedGoogle Scholar
  • 30 Kreuzer M, Drube J, Prüfe J, Schaefer F, Pape L. Members of the ERKNet Taskforce ‘QoL & Transition’. Current management of transition of young people affected by rare renal conditions in the ERKNet. Eur J Hum Genet 2019; 27 (12) 1783-1790
    CrossrefPubMedGoogle Scholar
  • 31 Metcalfe A, Coad J, Plumridge GM, Gill P, Farndon P. Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research. Eur J Hum Genet 2008; 16 (10) 1193-1200
    CrossrefPubMedGoogle Scholar
  • 32 Metcalfe A, Plumridge G, Coad J, Shanks A, Gill P. Parents' and children's communication about genetic risk: a qualitative study, learning from families' experiences. Eur J Hum Genet 2011; 19 (06) 640-646
    CrossrefPubMedGoogle Scholar
  • 33 Vetsch J, Wakefield CE, Tucker KM. et al. ANZCHOG Survivorship Study Group. Genetics-related service and information needs of childhood cancer survivors and parents: a mixed-methods study. Eur J Hum Genet 2020; 28 (01) 6-16
    CrossrefPubMedGoogle Scholar
  • 34 Vetsch J, Wakefield CE, Warby M. et al. Cancer-related genetic testing and personalized medicine for adolescents: a narrative review of impact and understanding. J Adolesc Young Adult Oncol 2018; 7 (03) 259-262
    CrossrefPubMedGoogle Scholar
  • 35 Wakefield CE, Fardell JE, Doolan EL. et al. Participation in psychosocial oncology and quality-of-life research: a systematic review. Lancet Oncol 2017; 18 (03) e153-e165
    CrossrefPubMedGoogle Scholar
  • 36 Sicouri G, Tully L, Collins D. et al. Toward father-friendly parenting interventions: a qualitative study. Aust N Z J Fam Ther 2018; 39 (02) 218-231
    CrossrefPubMedGoogle Scholar
  • 37 Marron JM, Cronin AM, DuBois SG. et al. Duality of purpose: Participant and parent understanding of the purpose of genomic tumor profiling research among children and young adults with solid tumors. JCO Precis Oncol 2019; 3: 1-17
    CrossrefPubMedGoogle Scholar
  • 38 Wade CH. What is the psychosocial impact of providing genetic and genomic health information to individuals? An overview of systematic reviews. Hastings Cent Rep 2019; 49 (Suppl. 01) S88-S96
    CrossrefPubMedGoogle Scholar