Genomic sequencing in pediatric oncology presents ethical, legal, and psychological challenges, particularly concerning the intersection of somatic and constitutional testing throughout the care pathway. The potential discovery of predispositions outside the usual framework raises complex issues. This study aimed to understand the perceptions and psychological implications of genetic or genomic testing among children, adolescents, young adults (AYAs) with cancer, and their parents. Existing guidelines for adult genetic testing need adaptation for the pediatric population, and research specifically exploring the experiences of children and AYAs with cancer and their families in this context is limited. A previous narrative review highlighted parental and (to a lesser extent) children/AYAs’ ambivalence regarding the subjective implications of these tests, including desires for treatment and knowledge, uncertainties, and guilt. This qualitative study utilized a robust methodology to explore parental and patient perspectives on genomic testing before and after results were revealed, irrespective of the test type. The study is part of the larger Genelnfokids project, funded by the French National Cancer Institute, focusing on the ethical, legal, and psychological implications of next-generation sequencing in this context.

The introduction mentions a prior narrative review by the authors which explored the perspectives of parents and, to a lesser extent, children and AYAs with cancer on genetic testing, highlighting areas of ambivalence such as desires for treatment and knowledge, uncertainties, and guilt. Other studies cited focus on the challenges in pediatric whole-exome sequencing, ethical and psychosocial implications of genetic testing in children and adolescents, patient experiences with exome sequencing in rare diseases, psychological and ethical issues associated with secondary findings from next-generation sequencing, implications of whole-genome sequencing for children and families, and guidelines for genetic testing in adults and recommendations for adapting them to children, adolescents, and AYAs. These works provide the foundation for the current study and highlight the limited existing research on this specific subject within the pediatric oncology setting.

This qualitative study involved 48 semi-structured interviews with 19 children or AYAs (aged 10-25) with cancer and 18 of their parents. Recruitment occurred across four partner centers in France (Gustave Roussy, Hôpital Robert-Debré, Hôpital Armand-Trousseau, Institut Curie) among French-speaking participants who had undergone somatic or constitutional genomic testing. The interviews, conducted before and/or after the result announcement, used two separate interview guides, tailored for patients and parents respectively. The first interview covered family and disease context, interest in testing, knowledge of possible result types (including incidental findings), and expectations/fears surrounding the testing process and decision-making. The second interview focused on understanding the results, associated emotions, matching expectations with results, consequences and implications, the temporality of testing within the care pathway, and the need for psychological consultation. Parents were also specifically asked about their preparation process. Audio-recorded interviews were transcribed, pseudonymized, and analyzed using MAXQDA 2020 software with systematic coding and thematic analysis, employing an inductive approach. Eight interviews were double-coded to establish initial themes, while others were coded by a single researcher and subsequently reviewed for consistency. The final thematic analysis plan was collaboratively developed by three researchers. The study included 21 families; some participated in one interview (before or after results), while others participated in both interviews. Five families declined to participate, citing feelings of being overwhelmed or insufficiently informed. The researchers collected information on the participants’ pathologies and the types of genomic tests performed.

Thematic analysis revealed that families’ feelings about consenting to genomic testing were influenced by various factors, including how the test was proposed, the consultation type, and the clinical and psychological context. Eight families described antagonistic feelings towards genetic testing in the context of cancer, viewing it as secondary to the urgent need for cancer treatment. However, some families later expressed a sense of last therapeutic hope in genetic testing when facing treatment impasses. The study highlighted the significance of psychological availability and understanding; several participants described their limited psychological capacity to process information during such stressful periods, affecting their consent. The manner in which information was delivered also varied, differing based on the hospital and indication. Some received dedicated onco-genetic consultations, whereas others received information during standard oncology consultations. Parents who had dedicated consultations had a better understanding and were more likely to consider incidental findings. There was a blurred perception of somatic versus germline testing. Many participants did not fully understand the difference between these types of tests, indicating a need for improved communication strategies. Children and AYAs were more concerned about relapse and transmission to offspring, while parents feared family risk. Many expressed feelings of guilt. Some families felt that they had not really consented to the testing and that they were influenced by medical professionals. Children and AYAs were sometimes absent during discussions, with some not being fully informed about the procedure. In terms of anticipating results, children and AYAs expected aetiological explanations and altruistic participation in research, whereas parents hoped for targeted treatments, aetiological explanations, and family prevention. Fears included relapse, transmission to offspring, and misunderstanding of results. After the announcement, responses varied: some expressed relief, disappointment, or ambivalence. The concept of incidental findings was not well understood. Parents with better understanding of genetics expressed the desire but also the fear of knowing such findings. The study concludes that families had varied levels of understanding and apprehension.

This study highlights the complex psychological and ethical considerations surrounding genomic testing in pediatric oncology. The findings reveal the influence of multiple factors on informed consent, emphasizing the need for improved communication and multidisciplinary approaches. The study underscores the importance of tailored information delivery, emphasizing the need for clear and accessible explanations suitable to various ages and emotional states, taking into account potential psychological unavailability and protective mechanisms employed by families dealing with a cancer diagnosis. The varied levels of understanding and apprehension concerning genetic testing underscore the importance of a step-by-step approach, providing ample time and opportunities for discussion, particularly during dedicated consultations involving multiple healthcare professionals (oncologists, genetic counselors, psychologists). The differing expectations between parents and children/AYAs emphasize the need for communication strategies that cater to these unique perspectives. Furthermore, the lack of understanding regarding incidental findings highlights the need for proactive education about potential implications.

This qualitative study provides valuable insights into the psychological and ethical implications of genomic testing in pediatric oncology. The findings emphasize the need for improved communication strategies, multidisciplinary consultations, and a more patient-centered approach. Future research using the themes identified in this study will involve developing and testing specific questionnaires in larger populations to quantify these perspectives and optimize shared decision-making among healthcare professionals, parents, and children and AYAs, particularly regarding incidental findings.

The study's heterogeneous population (varying diseases, treatments, prognoses, and test types) may have introduced variability in the psychological experiences reported. The diverse professional teams involved, with varying degrees of genetic counseling and psychological support, might also affect the findings. While data saturation was reached for most topics, the study acknowledges that it may not have been reached for all aspects of children and AYAs' perspectives. The exploratory nature of the study limited the collection of data on socioeconomic status and patient medical history, potentially influencing interpretations.