Details

Autor(en) / Beteiligte

• McGill, Brittany C
• Wakefield, Claire E
• Tucker, Katherine M
• Daly, Rebecca A
• Donoghoe, Mark W
• Vetsch, Janine
• Warby, Meera
• Fuentes-Bolanos, Noemi A
• Barlow-Stewart, Kristine
• Kirk, Judy
• Courtney, Eliza
• O'Brien, Tracey A
• Marshall, Glenn M
• Pinese, Mark
• Cowley, Mark J
• Tyrrell, Vanessa
• Deyell, Rebecca J
• Ziegler, David S
• Hetherington, Kate

Titel

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

Ist Teil von

• Cancer, 2023-11, Vol.129 (22), p.3620-3632

Ort / Verlag

United States: Wiley Subscription Services, Inc

Erscheinungsjahr

2023

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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. 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). 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. 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. Many 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.