Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients

Genomic and genetic testing in pediatric oncology is proposed for tumor characterization, therapy personalization, germline variant identification with preventive and familial implications, and for research. Sequencing may reveal constitutional variants linked to the current disease, variants unrelated to the initial indication (incidental or secondary findings), and variants of uncertain significance. These raise ethical, legal, and psychological challenges for children, AYAs, parents, and professionals. While adult guidelines exist, they require adaptation for minors and AYAs. Prior literature is limited, and a narrative review by the authors highlighted ambivalence around desire for treatment and knowledge, uncertainty, and guilt. The aim of this qualitative study was to understand how parents, children, and AYAs perceive genetic or genomic testing and to analyze their psychological implications, expectations, and representations before and after result disclosure, regardless of test type.

The paper notes that guidelines and points-to-consider for genetic testing and reporting of secondary findings have been developed primarily for adults and need adaptation for children and AYAs. Existing studies on psychosocial and ethical aspects in pediatric oncology are limited. A narrative review of 18 articles by the authors identified ambivalence among parents and, to a lesser extent, among children and AYAs regarding expectations from testing: hope for targeted treatment, desire for knowledge, experiences of uncertainty, and feelings of guilt. Other literature cited emphasizes challenges with pediatric whole-exome/genome sequencing, parental preferences toward secondary findings, and the importance of tailored genetic counseling approaches in pediatrics.

Design and context: Qualitative component of the French national GenelnfoKid project (ethical, legal, psychological axes) funded by INCa. Objective: describe psychological implications in families undergoing genome sequencing. Setting: four partner centers in France (Gustave Roussy, Hôpital Robert-Debré, Hôpital Armand-Trousseau, Institut Curie). Inclusion criteria: children, adolescents, and young adults aged 10–25 years with current or past cancer; underwent somatic and/or germline testing in clinical or research settings (e.g., MAPPYACTS); French-speaking. Recruitment: families informed by clinical teams; research psychologist contacted parents (for minors) or patients (for adults) to explain study and obtain consent. Data collection: Two semi-structured interviews per dyad were planned: one after test proposition and one after result disclosure. Guides used age-appropriate language and covered family/disease context, interest in testing, understanding of possible result types (primary, incidental), expectations/fears, decision-making, emotions, congruence between expectations and results, consequences and implications, timing in the care pathway, need for psychological support, and (for parents) evaluation of preparation and information. Interviews were conducted July 2020–May 2021, lasted 15–90 minutes (mean 35); 29 face-to-face (60%) and 19 by videoconference (40%) due to COVID-19. Sample: 21 families participated (19 patients, 18 parents); 48 interviews total (before and/or after). Confirmation rate among contacted families was 80.8% (5 of 26 declined, mainly due to feeling overwhelmed or insufficiently informed). Data analysis: Audio-recorded, transcribed, pseudonymized. Systematic coding and inductive thematic analysis using MAXQDA 2020. Eight interviews were double-coded to define themes; remaining coded by one researcher and discussed with another; final thematic plan discussed by three researchers. Thematic categories were organized by participant (children/AYAs vs parents) and timing (before vs after results). Additional contextual data on pathology, test type, and consultation context were collected.

Participants and testing context: 19 patients (mean age 14.4 years; range 10–24); 7 hematologic malignancies, 14 solid tumors. Testing: somatic only (n=5), germline only (n=9; 4 also in research), combined germline+somatic (n=7). Timing of genetic testing: at treatment start (n=12), during/at end (n=6), at relapse (n=3). Consultation formats varied: dedicated onco-genetic consultation (n=7), oncology consultation preceded by genetic counseling (n=7), oncology consultation only (n=6), no/uncertain consultation (n=1). Decision-making and understanding: Many families experienced urgency and psychological overload from the cancer context, limiting deliberation about genetics. Some perceived little choice and defaulted to trust in clinicians. Psychological unavailability and defense mechanisms were common. Before results, children/AYAs reported relative (6/14) or complete (5/14) lack of understanding; 2 forgot a dedicated consultation; after results, most (6/10) still reported poor knowledge, with 5 forgetting the result or most of the consultation. Among parents, before results 1/13 reported good understanding, 4/13 partial; 2 partially/completely forgot. After results, 7/11 reported psychological unavailability hindering understanding; 2/11 understood very little; 2/11 were unaware of results; 2/11 felt they understood well. Building a family tree before genetics helped some parents grasp implications. Understanding was influenced by initial expectations (lower when in therapeutic impasse). Families often could not distinguish somatic from germline testing (11/37 participants). Research-context testing raised questions about timing and consent updates at majority. Influence of consultation type: Dedicated onco-genetic consultations improved parental understanding and consideration of incidental findings (9/13 before results). When information/results were given during oncology consultations, attention focused on cancer management, overshadowing genetics (reported by 4/11 after results). Genetic counseling helped some patients (3/14) but not others (4/14), due to recovery concerns, cognitive side effects, and age. Role of children/AYAs: Presence and involvement varied by age, maturity, family context, and professionals' approach. Some were absent or unaware; others desired involvement. Parents often discussed testing with children (7/13), though some avoided due to perceived unavailability. Simple, tailored communication from clinicians facilitated understanding. Expectations and fears: Children/AYAs expected aetiological explanations (4/14), altruistic contribution to research (4/14), possible prevention (3/14), and therapy adjustment (3/14), but many did not know what to expect. Fears included relapse risk (3/14), transmission to future children (3/14), uncertainty about results (3/14), and unrealistic representations of genetics (3/14). Some feared a negative result would leave an aetiological void. Parents expected disease characterization (4/13), aetiological explanation (8/13), targeted treatment (8/13), possible prevention for child/family (8/13), and in therapeutic impasse a last chance (2/13); five did not know what to expect and five were ambivalent. Parents feared discovering familial risk (5/13), misunderstanding results (2/13), guilt if positive (2/13), and future uses of samples (2/13). Reactions to results: Children/AYAs often distanced themselves (5/10) because results did not affect daily life; some felt relief when therapy was validated, heritability/transmission was excluded, or filiation confirmed; two reported disappointment/ambivalence when aetiology remained unknown. Parents mainly reported relief (9/11) due to therapy validation/adjustment (5/11) and absence of family risk (3/11); disappointment (5/11) when aetiology remained unexplained (4/11) or details were lacking (3/11); some felt uncertainty (3/11), distance (3/11), or surprise (2/11), and ambivalence between non-hereditary transmission and lack of explanation. Results sometimes reshaped personal/family narratives and revived questions about disease origin. One dyad reported empowerment via prevention measures. Incidental findings (IF): Concept was understood by 1 child (in research) and 10 parents. Some parents conceptualized possible predispositions to other cancers/diseases and weighed desire to know against worry. Several expressed wanting to know for prevention but also fear; two parents reported relief when no IF were found, with one revising initial desire to know. Among those tested, 14 patients (7 germline, 7 combined) could have been exposed to genomic technologies with potential incidental data. Overall themes: Key issues were perceived understanding and consent, expectations and fears regarding outcomes, perception of incidental findings, and the child’s place in the process. Differences emerged between children/AYAs (more focused on relapse and transmission) and parents (more focused on familial risk and prevention). Feelings of possible parental guilt and imaginative representations of genomics were noted in both groups.

Findings show that the acute cancer context often constrains informed, reflective consent for genomic testing, with psychological unavailability and urgency limiting understanding for both parents and children/AYAs. Expectations diverged: adolescents and young adults emphasized altruism and sought aetiological meaning, while parents prioritized therapeutic options and family prevention and feared familial risk. This shapes how information is attended to and processed. Dedicated onco-genetic consultations and preparatory activities (e.g., pedigree building) improve comprehension compared with information delivered within oncology visits, which tend to prioritize immediate cancer management. The study underscores the need to view consent as an ongoing process, with opportunities to revisit decisions and information at different time points (e.g., after acute treatment, at transition to adulthood), preserving the right not to know and accommodating evolving preferences. Tailored, developmentally appropriate communication and psychological support can help identify and address defenses, misconceptions, and guilt, improving shared decision-making. Ambivalence toward incidental findings suggests clinicians should carefully elicit preferences, explain preventive relevance, and acknowledge uncertainty, potentially via staged consent models and multidisciplinary pathways.

This qualitative study elucidates how children/AYAs with cancer and their parents perceive and experience genomic testing, highlighting variable understanding, constrained consent in an urgent context, differing expectations and fears, and ambivalence about incidental findings. Families often desired more time and stepwise explanations, ideally separated from the most acute phases of treatment. The authors recommend extended, staged, and multidisciplinary approaches to information and consent, involving genetic counselors and psychologists within pediatric oncology pathways, with opportunities to revisit decisions over time and at key transitions. The qualitative themes will inform the development of specific questionnaires for a larger quantitative component of the GenelnfoKid project to better characterize expectations and needs, particularly around incidental findings, and to promote shared decision-making.

Heterogeneity of the study population (disease type, treatment, prognosis, test type) and variability in teams and available professionals (geneticists, counselors, psychologists) likely influenced experiences. Data saturation was reached for most topics but not all, particularly children/AYA perspectives. The exploratory design did not collect parents’ socio-educational level or patients’ medical history, limiting interpretation of some responses.