| Title: |
Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care |
| Authors: |
Lankhorst, Lina H; Reuvers, Milou J P; Giesbertz, Noor A A; van der Kolk, Lizet E; Fiebrich-Westra, Helle-Brit; Hendriks, Mathijs P; Flameling, Baukje; Stabel, Lenneke; van de Ree, Madelief; Gietema, Jelmer; van der Graaf, Winette T A; Husson, Olga |
| Contributors: |
Illumina BV, The Netherlands |
| Source: |
Journal of Medical Genetics ; page jmg-2025-111368 ; ISSN 0022-2593 1468-6244 |
| Publisher Information: |
BMJ |
| Publication Year: |
2026 |
| Description: |
Purpose Tumour genomic profiling, including whole genome sequencing (WGS), offers opportunities for refined diagnosis and personalised treatment for adolescents and young adults (AYAs) with advanced or poor prognostic cancer. This study explores AYAs’ attitudes towards receiving WGS in standard oncological care, their preferences for the communication of results and the perceived impact of these results. Methods Semistructured interviews were conducted with AYAs (aged 18–39 years at initial cancer diagnosis). Interviews were transcribed and analysed thematically using an inductive approach in NVivo (V.12). Results 16 AYAs participated. Analysis revealed five themes: (1) confidence in the current WGS procedure; (2) challenges in understanding and communicating purpose and results of WGS; (3) dual emotional impact of WGS results; (4) high value placed on hereditary information for self and loved ones and (5) balancing altruism and personal risk in genomic data sharing. Conclusion AYAs with advanced cancer generally value WGS, even when results have no immediate clinical consequences. They describe benefits such as hope, reassurance and the opportunity to help future patients. However, misunderstandings about its purpose, difficulties in interpreting genomic findings and limited awareness of potential hereditary implications may limit its optimal use. Strengthening communication with age-appropriate, accessible explanatory materials will be essential to ensure AYAs understand the purpose and potential outcomes of WGS and can fully benefit from its implementation. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1136/jmg-2025-111368 |
| Availability: |
https://doi.org/10.1136/jmg-2025-111368; https://syndication.highwire.org/content/doi/10.1136/jmg-2025-111368 |
| Rights: |
https://creativecommons.org/licenses/by-nc/4.0/ |
| Accession Number: |
edsbas.A4C0D24D |
| Database: |
BASE |