Genetics-related service and information needs of childhood cancer survivors and parents: a mixed-methods study

Article metrics


Genetics in paediatric oncology is becoming increasingly important in diagnostics, treatment and follow-up care. Genetic testing may offer a possibility to stratify survivors follow-up care. However, survivors’ and parents’ preferences and needs for genetics-related services are largely unknown. This mixed-methods study assessed genetics-related information and service needs of survivors and parents. Six hundred and twenty-two participants (404 survivors: mean age: 26.27 years; 218 parents of survivors: mean age of child: 13.05 years) completed questionnaires. Eighty-seven participants (52 survivors; 35 parents) also completed in-depth telephone interviews. We analysed data using multivariable logistic regression and qualitative thematic analyses. Thirty-six of 50 families who were offered cancer-related genetic testing chose to undergo testing. Of those not offered testing, 11% of survivors and 7.6% of parents indicated that they believed it was ‘likely/very likely’ that the survivor had inherited a gene fault. Twenty-nine percent of survivors and 36% of parents endorsed access to a genetics specialist as important in their care. Survivors (40.9%) and parents (43.7%) indicated an unmet need for information about genetics and childhood cancer. Parents indicated a higher unmet need for information related to the survivors’ future offspring than survivors (p < 0.001). Many survivors and parents have unmet needs for genetics-related services and information. Greater access to services and information might allow survivors at high risk for late effects to detect and prevent side effects early and improve medical outcomes. Addressing families’ needs and preferences during survivorship may increase satisfaction with survivorship care.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Fig. 1


  1. 1.

    Gatta G, Botta L, Rossi S, Aareleid T, Bielska-Lasota M, Clavel J, et al. Childhood cancer survival in Europe 1999-2007: results of EUROCARE-5–a population-based study. Lancet Oncol. 2014;15:35–47.

  2. 2.

    Gatta G, Capocaccia R, Coleman MP, Ries LA, Berrino F. Childhood cancer survival in Europe and the United States. Cancer. 2002;95:1767–72.

  3. 3.

    Oeffinger KC, Mertens AC, Sklar CA, Kawashima T, Hudson MM, Meadows AT, et al. Chronic health conditions in adult survivors of childhood cancer. New Engl J Med. 2006;355:1572–82.

  4. 4.

    Friedman DL, Freyer DR, Levitt GA. Models of care for survivors of childhood cancer. Pediatr Blood Cancer. 2006;46:159–68.

  5. 5.

    Tonorezos ES, Barnea D, Cohn RJ, Cypriano MS, Fresneau BC, Haupt R, et al. Models of care for survivors of childhood cancer from across the globe: advancing survivorship care in the next decade. J Clin Oncol. 2018;36:2223–30.

  6. 6.

    Oeffinger KC, Nathan PC, Kremer LC. Challenges after curative treatment for childhood cancer and long-term follow up of survivors. Hematol Oncol Clin North Am. 2010;24:129–49.

  7. 7.

    Armenian SH, Landier W, Hudson MM, Robison LL, Bhatia S. Children’s Oncology Group’s 2013 blueprint for research: survivorship and outcomes. Pediatr Blood Cancer. 2012;60:1063-8.

  8. 8.

    Strong LC. Genetic implications for long-term survivors of childhood cancer. Cancer. 1993;71(10 Suppl):3435–40.

  9. 9.

    Wang Z, Wilson CL, Easton J, Thrasher A, Mulder H, Liu Q, et al. Genetic risk for subsequent neoplasms among long-term survivors of childhood cancer. J Clin Oncol. 2018;36:2078–87.

  10. 10.

    Geenen MM, Cardous-Ubbink MC, Kremer LC, van den Bos C, van der Pal HJ, Heinen RC, et al. Medical assessment of adverse health outcomes in long-term survivors of childhood cancer. JAMA 2007;297:2705–15.

  11. 11.

    Frobisher C, Glaser A, Levitt GA, Cutter DJ, Winter DL, Lancashire ER, et al. Risk stratification of childhood cancer survivors necessary for evidence-based clinical long-term follow-up. Br J Cancer. 2017;117:1723–31.

  12. 12.

    Ripperger T, Bielack SS, Borkhardt A, Brecht IB, Burkhardt B, Calaminus G, et al. Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology. Am J Med Genet Part A. 2017;173:1017–37.

  13. 13.

    Grobner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, et al. The landscape of genomic alterations across childhood cancers. Nature. 2018;555:321–7.

  14. 14.

    Knapke S, Nagarajan R, Correll J, Kent D, Burns K. Hereditary cancer risk assessment in a pediatric oncology follow‐up clinic. Pediatr Blood Cancer. 2012;58:85–9.

  15. 15.

    Vetsch J, Wakefield CE, Doolan EL, Signorelli C, McGill BM, Moore L, et al. ‘Why us?’ Causal attributions of childhood cancer survivors, survivors’ parents and community comparisons - a mixed methods analysis. Acta Oncol. 2019;58:209–17.

  16. 16.

    Patenaude AF, Basili L, Fairclough DL, Li FP. Attitudes of 47 mothers of pediatric oncology patients toward genetic testing for cancer predisposition. J Clin Oncol. 1996;14:415–21.

  17. 17.

    Georgiou G, Wakefield CE, McGill BC, Fardell JE, Signorelli C, Hanlon L, et al. Genetic testing for the risk of developing late effects among survivors of childhood cancer: consumer understanding, acceptance, and willingness to pay. Cancer. 2016;122:2876–85.

  18. 18.

    Vetsch J, Fardell JE, Wakefield CE, Signorelli C, Michel G, McLoone JK, et al. “Forewarned and forearmed”: long-term childhood cancer survivors’ and parents’ information needs and implications for survivorship models of care. Patient Educ Couns. 2017;100:355–63.

  19. 19.

    Signorelli C, Wakefield CE, McLoone JK, Fardell JE, Lawrence RA, Osborn M, et al. Models of childhood cancer survivorship care in Australia and New Zealand: Strengths and challenges. Asia -Pac J Clin Oncol. 2017;13:407–15.

  20. 20.

    Herdman M, Gudex C, Lloyd A, Janssen M, Kind P. Parkin D, et al. Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Qual Life Res. 2011;20:1727–36.

  21. 21.

    Norman R, Cronin P, Viney R. A pilot discrete choice experiment to explore preferences for EQ-5D-5L health states. Appl Health Econ Health Policy. 2013;11:287–98.

  22. 22.

    Rabin ROM, Oppe M. EQ-5D-5L User Guide (ed Version 1.0) Rotterdam; 2011.

  23. 23.

    Lee DS, Tu JV, Chong A, Alter DA. Patient satisfaction and its relationship with quality and outcomes of care after acute myocardial infarction. Circulation. 2008;118:1938–45.

  24. 24.

    Coyte PC, Wright JG, Hawker GA, Bombardier C, Dittus RS, Paul JE, et al. Waiting times for knee-replacement surgery in the United States and Ontario. N Engl J Med. 1994;331:1068–71.

  25. 25.

    Boyes A, Girgis A, Lecathelinais C. Brief assessment of adult cancer patients’ perceived needs: development and validation of the 34‐item Supportive Care Needs Survey (SCNS‐SF34). J Eval Clin Pract. 2009;15:602–6.

  26. 26.

    Miles B, Huberman A, editors. Qualitative data analysis: an expended sourcebook. London, UK: Sage Publications; 1994.

  27. 27.

    Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet Med. 2007;9:665–74.

  28. 28.

    Sankila R, Olsen JH, Anderson H, Garwicz S, Glattre E, Hertz H, et al. Risk of cancer among offspring of childhood-cancer survivors. Association of the Nordic Cancer Registries and the Nordic Society of Paediatric Haematology and Oncology. New Engl J Med. 1998;338:1339–44.

  29. 29.

    Madanat-Harjuoja LM, Malila N, Lahteenmaki P, Pukkala E, Mulvihill JJ, Boice JD Jr., et al. Risk of cancer among children of cancer patients - a nationwide study in Finland. Int J cancer. 2010;126:1196–205.

  30. 30.

    Reinmuth S, Liebeskind AK, Wickmann L, Bockelbrink A, Keil T, Henze G, et al. Having children after surviving cancer in childhood or adolescence - results of a Berlin survey. Klin Padiatr. 2008;220:159–65.

  31. 31.

    Klitzman RL. Misunderstandings concerning genetics among patients confronting genetic disease. J Genet Couns. 2010;19:430–46.

  32. 32.

    Lim Q, McGill BC, Quinn VF, Tucker KM, Mizrahi D, Patenaude AF, et al. Parents’ attitudes toward genetic testing of children for health conditions: a systematic review. Clin Genet. 2017;92:569–78.

  33. 33.

    McGill BC, Wakefield CE, Vetsch J, Barlow-Stewart K, Kasparian NA, Patenaude AF, et al. Children and young people’s understanding of inherited conditions and their attitudes towards genetic testing: a systematic review. Clin Genet. 2019;95:10–22.

  34. 34.

    Wakefield CE, Hanlon LV, Tucker KM, Patenaude AF, Signorelli C, McLoone JK, et al. The psychological impact of genetic information on children: a systematic review. Genet Med. 2016;18:755.

  35. 35.

    Vetsch J, Wakefield CE, Warby M, Tucker K, Patterson P, McGill BC, et al. Cancer-related genetic testing and personalized medicine for adolescents: a narrative review of impact and understanding. J Adolesc Young Adult Oncol. 2018;7:259–62.

  36. 36.

    Roberts JS, Robinson JO, Diamond PM, Bharadwaj A, Christensen KD, Lee KB, et al. Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project. Genet Med. 2018;20:1069–76.

  37. 37.

    Malek J, Slashinski MJ, Robinson JO, Gutierrez AM, Parsons DW, Plon SE, et al. Parental perspectives on whole-exome sequencing in pediatric cancer: a typology of perceived utility. JCO Precision. Oncology. 2017;1:1–10.

Download references


We thank Emma Doolan, Lucy Hanlon, Gabrielle Georgiou, Alison Young, Lachlan Munro, Luke Fry and Sanaa Mathur for their contributions to this research. We also thank each of the recruiting sites for this study, including Sydney Children’s Hospital Randwick, the Children’s Hospital at Westmead, John Hunter Children’s Hospital, the Royal Children’s Hospital Melbourne, Monash Children’s Hospital Melbourne, Lady Cilento Children’s Hospital Brisbane (formerly Royal Children’s Hospital Brisbane), Perth Children’s Hospital (formerly Princess Margaret Hospital for Children), Women’s and Children’s Hospital Adelaide, and in New Zealand, Starship Children’s Health, Wellington Hospital and Christchurch Hospital. We thank Joanna Fardell (PhD) and Kate Hetherington (PhD) for conducting some interviews. We thank Mark Donoghoe for his statistical support. CEW is supported by a Career Development Fellowship from the NHMRC of Australia (APP1143767). CS is supported by The Kids’ Cancer Project. The Behavioural Sciences Unit (BSU) is proudly supported by the Kids with Cancer Foundation.

*ANZCHOG Survivorship Study Group:

*The members of the ANZCHOG Survivorship Study Group in alphabetical order: Dr Frank Alvaro, Professor Richard Cohn, Dr Rob Corbett, Dr Peter Downie, Ms Karen Egan, Ms Sarah Ellis, Professor Jon Emery, Dr Joanna Fardell, Ms Tali Foreman, Dr Melissa Gabriel, Professor Afaf Girgis, Ms Kerrie Graham, Ms Karen Johnston, Dr Janelle Jones, Dr Liane Lockwood, Dr Ann Maguire, Dr Maria McCarthy, Dr Jordana McLoone, Dr Francoise Mechinaud, Ms Sinead Molloy, Ms Lyndal Moore, Dr Michael Osborn, Dr Christina Signorelli, Dr Jane Skeen, Dr Heather Tapp, Ms Tracy Till, Ms Jo Truscott, Ms Kate Turpin, Professor Claire Wakefield, Dr Thomas Walwyn, Ms Jane Williamson and Ms Kathy Yallop.

Author information

Correspondence to Claire E. Wakefield.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Vetsch, J., Wakefield, C.E., Tucker, K.M. et al. Genetics-related service and information needs of childhood cancer survivors and parents: a mixed-methods study. Eur J Hum Genet (2019) doi:10.1038/s41431-019-0481-7

Download citation