Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.
Department of Psychiatry, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
Eur J Hum Genet. 2024 May;32(5):567-575. doi: 10.1038/s41431-024-01565-3. Epub 2024 Feb 27.
This study explored the experiences and needs of adolescents, ranging from 12 to 18 years old, who have recently been diagnosed with cancer and participated in a nationwide germline genetic sequencing study within the context of pediatric oncology. The 21 adolescents in this qualitative interview study viewed genetic sequencing as an integral part of their cancer journey. They often characterized germline sequencing as "good-to-know" without specifying immediate utility. While the adolescents comprehended the significance of germline genetic sequencing, they were less focused on its potential long-term implications. Adolescents expressed a strong desire to be actively engaged in decisions related to genetics. They advocated for a participatory role in genetic decision-making from a young age onwards. They recommended that re-consent should be sought before re-analysis of their genetic data is performed and believe that patients should have the opportunity to provide (re-)consent once they reach adulthood. Moreover, the adolescents emphasized the importance of developing counseling materials that are not only concise but also visually attractive. In conclusion, this study underscores the positive perception that adolescents diagnosed with cancer hold regarding germline genetic sequencing. They articulate a strong interest in being actively involved in genetic decision-making. To address these articulated needs and preferences, we recommend the development of visually engaging counseling materials. These materials should effectively convey both the immediate and long-term implications of genetic sequencing, enabling adolescents with cancer to make informed decisions about genetic sequencing.
本研究探讨了年龄在 12 至 18 岁之间、最近被诊断出患有癌症并参与儿科肿瘤学范围内全国种系基因测序研究的青少年的经历和需求。在这项定性访谈研究中，21 名青少年将基因测序视为癌症治疗过程的一个组成部分。他们通常将种系测序描述为“知道了更好”，而没有具体说明即时的用途。尽管青少年理解种系遗传测序的重要性，但他们对其潜在的长期影响关注较少。青少年强烈希望积极参与与遗传学相关的决策。他们提倡从年轻时起就参与遗传决策。他们建议在重新分析其遗传数据之前应重新获得同意，并认为一旦患者成年，他们应有机会提供（重新）同意。此外，青少年强调需要开发不仅简洁而且具有视觉吸引力的咨询材料。总之，本研究强调了被诊断患有癌症的青少年对种系遗传测序的积极看法。他们明确表示有兴趣积极参与遗传决策。为了满足这些表达出的需求和偏好，我们建议开发具有视觉吸引力的咨询材料。这些材料应有效地传达遗传测序的即时和长期影响，使癌症青少年能够就遗传测序做出明智的决策。
