What’s in a Name? Parents’ and Healthcare Professionals’ Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes

Hunter, Jacqueline D.; Robertson, Eden G.; Hetherington, Kate; Ziegler, David S.; Marshall, Glenn M.; Kirk, Judy; Marron, Jonathan M.; Denburg, Avram; Barlow‐Stewart, Kristine; Warby, Meera; Tucker, Kathy; Lee, Brittany M.; O’Brien, Tracey; Wakefield, Claire E.

doi:10.3390/jpm12081327

Cited by 3 publications

(3 citation statements)

References 41 publications

(62 reference statements)

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“… 35 Our data speak to the important role of genetics education and repeated genetic counseling consultations, including at the time of consent and in the return of germline findings. 33 , 35 Education and training for clinicians, some of whom have previously described a lack of skills and confidence in communicating genomic results to families, 24 , 34 , 42 are also increasingly important with the continued uptake of genome sequencing in childhood cancer care.…”

Section: Discussionmentioning

confidence: 99%

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

McGill

Wakefield

Tucker

et al. 2023

Cancer

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BackgroundGermline 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.MethodsA 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). 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.ResultsAt 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.ConclusionsMany parents of children with poor‐prognosis childhood cancer enrolled in a precision medicine trial expect their child may have an underlying cancer predisposition syndrome. They wish to receive a wide scope of information from germline genome sequencing but may feel confused by the reporting of trial results.

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Section: Discussionmentioning

confidence: 99%

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

McGill

Wakefield

Tucker

et al. 2023

Cancer

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Section: Communicating Complex Information To Clients and Their Famil...mentioning

confidence: 99%

“…It is crucial to convey this information in a manner that clients can comprehend easily, take appropriate action upon, and uses their preferred language. The articles in this Special Issue underscore the importance of achieving these objectives to ensure the adoption of desired behaviors [ 15 , 16 ]. The second link in the communication chain that Pedrazzani et al reported involves clients sharing their genetic information with family members.…”

Section: Communicating Complex Information To Clients and Their Famil...mentioning

confidence: 99%

Special Issue: “Genetic Counseling and Genetic Testing in Precision Medicine”

Turbitt

Jacobs

McEwen

2023

JPM

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Parents' Experiences With and Preferences for Receiving Information About Tumor Genomic Sequencing: Findings From a Qualitative Study and Implications for Practice

Greene,

Barton,

Bonkowski

et al. 2024

JCO Precis Oncol

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PURPOSE The use of up-front tumor genomic sequencing (TGS) is becoming increasingly common in pediatric oncology. Despite this, little is known about how parents receive information about TGS at the time of their child's cancer diagnosis. We aimed to describe parents' experiences with and preferences for receiving information about TGS and to use these findings to inform practical guidance for pediatric oncology clinicians. METHODS We conducted semistructured interviews with English-speaking parents (older than 18 years) of patients (younger than 18 years) who had TGS for a new diagnosis of cancer. We analyzed the interviews thematically. Participants also completed a short demographic survey, and we obtained medical information about participants' children via chart review. RESULTS We interviewed 20 parents (14 mothers; median age, 38 years) of children who underwent TGS for a newly diagnosed cancer (10 leukemias/lymphomas, three CNS tumors, seven other solid tumors). Children were 6 months to 17 years at diagnosis (median, 6 years). Fifteen parents and their children were White, two of whom were Hispanic and four of whose children were Hispanic. No participants identified themselves or their child as Black. We identified the following themes regarding information delivery about genomic testing from the interviews: (1) those in the parent role have some universal information needs; (2) information delivery preferences vary among parents, even within one family; and (3) parents desire standard yet tailored information delivery. CONCLUSION Parents made suggestions consistent with elements of established high-quality communication in pediatric oncology. As genomic testing is more standardly incorporated into childhood cancer care, communication with parents may need to adapt to reflect this. Our findings highlight potential opportunities to support parents in receiving information about genomic testing.

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What’s in a Name? Parents’ and Healthcare Professionals’ Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes

Cited by 3 publications

References 41 publications

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

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

Special Issue: “Genetic Counseling and Genetic Testing in Precision Medicine”

Parents' Experiences With and Preferences for Receiving Information About Tumor Genomic Sequencing: Findings From a Qualitative Study and Implications for Practice

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