Parents’ expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial

Q: What was the study’s main focus regarding germline genome sequencing in childhood cancer trials?

It examined parents’ expectations, preferences for return of results, and recall of clinically relevant germline findings in a childhood cancer precision medicine trial.

Q: What key findings were reported about parents’ expectations and preferences?

At enrollment, most parents (63%) believed it was at least somewhat likely their child would receive a clinically relevant germline finding, and almost all preferred a broad range of germline genomic findings, including variants of uncertain significance (88%).

Q: What issues did parents report after results were returned, and what recall-related outcome occurred?

Some parents inaccurately recalled receiving a clinically relevant germline finding (29%), and qualitatively, parents expressed confusion and uncertainty after results were returned by the child’s clinician.

Sep 24, 2026

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Germline genome sequencing in childhood cancer precision medicine trials can detect pathogenic or likely pathogenic variants in cancer predisposition genes in over 10% of children, affecting diagnosis, treatment, and future cancer risk for children and families. A total of 182 parents of 144 children (<18) with poor-prognosis cancers completed questionnaires at enrollment and after return of results, including clinically relevant findings for 13% of parents, and 45 parents were interviewed in depth. Most parents expected clinically relevant results and preferred broad disclosure, though some inaccurately recalled receiving such findings, with reported confusion after clinician return.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages13

Reading Time33 min

AccessFree to download

Abstract

Background

Methods

Results

Conclusions

Introduction

DOI: 10. 1002/cncr.34917 ORIGINAL ARTICLE Parents’ expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial Brittany C. McGill PhD, MPsych (Clin)1,2 | Claire E. Wakefield PhD, MPH 1,2 | Katherine M. Tucker MD3,4 | Rebecca A. Daly MAP 1,2 | Mark W. Donoghoe PhD2,5 | Janine Vetsch PhD1,2 | Meera Warby MGC3,6 | Noemi A. Fuentes‐Bolanos MD, PhD1,2,6 | Kristine Barlow‐Stewart PhD6,7 | Judy Kirk MD8,9 | Eliza Courtney MGC1,2,6 | Tracey A. O’Brien MD, MBA, MHL 1,2,6 | Glenn M. Marshall MD 1,2,6 | Mark Pinese PhD1,6 | Mark J. Cowley PhD1,6 | Vanessa Tyrrell BAppSc, MBA, FHGSA, ARCPA1,6 | Rebecca J. Deyell MD, MHSc10 | David S. Ziegler MBBS, MD (Res)1,2,6 | Kate Hetherington MPsych (Clin), PhD1,2 1School of Clinical Medicine, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia 2Kids Cancer Centre, Sydney Children’s Hospital, Sydney, New South Wales, Australia 3Hereditary Cancer Centre, Prince of Wales Hospital, Sydney, New South Wales, Australia 4Prince of Wales Clinical School, UNSW Sydney, Sydney, New South Wales, Australia 5Stats Central, UNSW Sydney, Sydney, New South Wales, Australia 6Children’s Cancer Institute, UNSW Sydney, Sydney, New South Wales, Australia 7Faculty of Medicine and Health, Royal North Shore Hospital, Sydney, New South Wales, Australia 8Familial Cancer Service, Westmead Hospital, Sydney, New South Wales, Australia 9Sydney Medical School, Westmead Institute for Medical Research, Sydney, New South Wales, Australia 10Division of Paediatric Hematology/Oncology/Bone Marrow Transplantation, British Columbia Children’s Hospital and Research Institute, Vancouver, British Columbia, Canada Correspondence Brittany C. McGill, Sydney Children’s Hospital, High St, Randwick, Sydney, NSW 2031, Australia. Email: [b.mcgill@unsw.edu.au](b.mcgill@unsw.edu.au) Funding information Zero Childhood Cancer; Luminesce Alliance– Innovation for Children’s Health; Australian Government Research Training Program Scholarship; National Health and Medical Research Council, Grant/Award Number: APP2008300 Abstract Background: Germline genome sequencing in childhood cancer precision medicine trials may reveal pathogenic or likely pathogenic variants in cancer predisposition genes in more than 10% of children. These findings can have implications for diagnosis, treatment, and the child’s and family’s future cancer risk. Understanding parents’ perspectives of germline genome sequencing is critical to successful clinical implementation. Methods: A total of 182 parents of 144 children (< 18 years of age) with poor‐ prognosis cancers enrolled in the Precision Medicine for Children with Cancer trial completed a questionnaire at enrollment and after the return of their child’s results, including clinically relevant germline findings (received by 13% of parents). This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. © 2023 The Authors. Cancer published by Wiley Periodicals LLC on behalf of American Cancer Society. Parents’ expectations of germline genome sequencing, return of results preferences, and recall of results received were assessed. Forty‐five parents (of 43 children) were interviewed in depth. Results: At trial enrollment, most parents (63%) believed it was at least “somewhat likely” that their child would receive a clinically relevant germline finding. Almost all expressed a preference to receive a broad range of germline genomic findings, including variants of uncertain significance (88%). Some (29%) inaccurately recalled receiving a clinically relevant germline finding. Qualitatively, parents expressed confusion and uncertainty after the return of their child’s genome sequencing results by their child’s clinician. Conclusions: Many parents of children with poor‐prognosis c

FAQs

What was the study’s main focus regarding germline genome sequencing in childhood cancer trials?

It examined parents’ expectations, preferences for return of results, and recall of clinically relevant germline findings in a childhood cancer precision medicine trial.

How many parents and children participated, and how were data collected?

A total of 182 parents of 144 children (<18 years) completed questionnaires at enrollment and after results were returned, and 45 parents (of 43 children) were interviewed in depth.

What key findings were reported about parents’ expectations and preferences?

At enrollment, most parents (63%) believed it was at least somewhat likely their child would receive a clinically relevant germline finding, and almost all preferred a broad range of germline genomic findings, including variants of uncertain significance (88%).

What issues did parents report after results were returned, and what recall-related outcome occurred?

Some parents inaccurately recalled receiving a clinically relevant germline finding (29%), and qualitatively, parents expressed confusion and uncertainty after results were returned by the child’s clinician.

Sep 24, 2026

Uploaded by awa