A childhood cancer diagnosis turns life upside down, not just for the patient but for the whole family. Alongside the physical and emotional toll of treatment, families are often faced with another layer of complexity - genetic testing. While genomic insights can shape personalized treatment strategies and reveal potential inherited risks, they also introduce difficult ethical and psychological challenges.
A recent study by Droin-Mollard et al. (2024) explored how children, adolescents, and parents perceive genetic testing in pediatric oncology. Their testimonies reveal a common challenge: During a cancer diagnosis, genetic information can feel secondary, difficult to process, or even overwhelming. Families are often asked to consider the implications of genetic test results while navigating the immediate crisis of cancer treatment.
Parents may view testing as a way to understand the origins of the disease or protect other family members, while children often focus on their immediate prognosis and personal risk. The study reveals a deeper issue - many families struggle to fully engage with the implications of genetic testing when their priority is survival.
For many parents, genetic testing is seen as a way to explain their child’s diagnosis or identify risks for other family members. Some view it as a necessary step, while others feel uncertain about its relevance in a pressing medical emergency. On the other hand, patients are often understandably less concerned with hereditary risks and more focused on their present condition. Their main anxieties surround the risk of relapse or how their diagnosis might affect their future.
The study highlights how genetic testing can sometimes feel like an afterthought. One parent described how the urgency of treatment left little room to process the genetic aspect of their child’s care:
“There was this question of genetic predisposition, and then Professor XX wanted Cerise to take part in a clinical trial, so we didn’t even have time to discuss it with Cerise, i.e. we were told the protocol straight away and in fact our questions were all about that protocol. So in the end, it almost… erased, um, all the questions that had been asked about genetic predisposition, you see, even Cerise remained, I think, mentally much more so after the protocol that was announced to her than… everything that was linked to genetics.” 1
Genetic information, while valuable, is often deprioritized when families are consumed by more immediate medical decisions. Genetic results are often only seen as important when they lead to tangible, immediate action, such as eligibility for a clinical trial. Once the trial was introduced, this family’s focus shifted entirely to the treatment plan, and discussions about genetics seemed to fade. This suggests that while families recognize the value of genetic insights, their engagement with that information depends on, among other things, its relevance to the current circumstances. If genetic results inform a treatment pathway, they are prioritized. If they raise broader questions about hereditary risk or future health implications, they may be overlooked in favor of more immediate concerns.
When a child is diagnosed with cancer, every decision is aimed at keeping them alive. Therefore, when genetic testing is offered, many families feel unable to engage with it, considering it secondary to the immediate medical crisis. Cancer treatment takes precedence, and when genetic insights have no direct impact on treatment, they can feel distant or even irrelevant. One parent reflected on this tension:
“The aim was for her to live as well as possible, and the others too, to enjoy what we have and then we’ll see. So, I must admit that genetic testing was the least of my worries.” 1
For many families, genetic testing is simply one consideration among many, often overshadowed by the immediate demands of treatment and survival.
While genetic testing requires formal consent, the study suggests that many families struggle to process fully what they are agreeing to. Some parents don’t recall consenting at all, while others felt pressured to approve testing without fully understanding its implications. One mother described the overwhelming nature of the decision-making process:
“I think they made me sign a paper relevant to that. We’re not really able to sign anything, well, in full consciousness, I think. We’re in a bit of a dead point, we don’t really know what’s happening to us, we’re digesting every piece of information without really digesting it.” 1
For children and adolescents, the concept of consent can be even more abstract. Some patients did not realize they had undergone genetic testing at all, with one 18-year-old patient admitting:
“I don’t even know if I’ve had it done, because this morning I had a blood test, I don’t know if that’s why.” 1
Even for families who engage with genetic testing, the results can bring unexpected emotional burdens. Some parents experience guilt upon discovering a hereditary link to their child’s illness, while others struggle with uncertainty when results provide no clear explanation. One mother captured this frustration:
“It was a bit difficult to… to discover that… it wasn’t hereditary. Because then we don’t have an answer.” 1
For children and adolescents, the emotional response is often tied to their future rather than family history. One 13-year-old patient worried less about genetics and more about what it meant for their own health:
“I didn’t want to hear them say that it was possible to be cured and then just go back into a longer phase of the disease.” 1
The study also highlights how the way in which genetic testing is introduced varies between hospitals and clinicians, shaping how families process the information. Some receive dedicated genetic counseling, while others only receive a brief explanation during an oncology consultation. One father reflected on how the presentation of testing influenced his understanding:
We don’t think, […] we don’t have the distance at certain times, here during an appointment like this with the doctor, he throws a lot of information at us about radiotherapy, well, things that we discover, well, we take in a lot of things at once, here we can’t, I can’t manage to take a step back and to… I haven’t managed to ask questions about other, um… about this subject.” 1
On the other hand, one parent describes how taking the time to explain and discuss the process with patients has an effect on their understanding:
"We were supervised by a doctor who was very... well, adorable, well, a very gentle way of dealing with Tom. And she spoke to him in very simple words. And... she let him talk a lot and rephrase what she was saying to make sure he understood." 1
The inconsistency in how genetic testing is introduced and discussed contributes to the varying levels of engagement and comprehension displayed across families.
For some families, genetic testing is viewed less as a tool for personal medical decision-making and more as a contribution to broader scientific research. This can create a sense of altruism among some patients, while others feel disconnected. One 14-year-old patient explained their perspective:
I agreed to take part in the research, and so it was as if I had been told… well, that as I had taken part in the research, I had to do a genetic test […] Finally, the research that we did, that we started at the beginning, which took place at XX, I think, from time to time, they need blood tubes to… they take an extra tube of blood to analyse. A bit like that.” 1
While some children and adolescents feel a sense of contribution, others struggle to understand the purpose of the test. One 13-year-old patient admitted simply:
“Well, it’s too hard to understand.” 1
Genetic testing in pediatric oncology is a valuable tool, offering insights that can shape immediate treatment strategies and long-term family health decisions. However, this study highlights a fundamental challenge - families are often asked to process complex genetic information while navigating the emotional and medical difficulties of a cancer diagnosis. For many, survival takes precedence, and genetic insights become secondary or burdensome.
The study also raises important questions about informed consent. Many families consent to testing without fully understanding its implications, either due to the overwhelming nature of their situation or the way information is presented. One parent reflected on the sheer amount of medical decisions they were expected to absorb:
“It was already a big burden to learn about the tumour. So after that, the other, well, the other information over and over again, it was a bit heavy.” 1
For children and adolescents, the challenge is even greater. Their concerns tend to center on their prognosis rather than genetic risks, and some struggle to recall whether they even underwent testing. This suggests a need for genetic counseling approaches that account for the psychological state of young patients, ensuring that they are not just informed but also engaged in a way that is meaningful to them.
This raises the question: is genetic testing consent treated as a meaningful decision or simply another box to tick? Many families provide consent at a highly emotional time without meaningfully processing what they are agreeing to. Should this process be improved to ensure families truly understand their choices, even in the face of crisis?
This is no simple task. Clinicians work under extreme pressure to balance the urgency of treatment with the responsibility of ensuring families are informed and supported. Genetic testing is just one part of a larger decision-making process where every delay could impact a child’s prognosis. Therefore it is important to consider how to best give families the space they need to process genetic information without hindering essential medical decisions.
The study highlights the emotional complexities of genetic results. Families may experience relief, frustration, or even guilt upon learning genetic findings or a lack thereof. As one parent noted:
“Well, of course, it’s guilt because I say to myself, well, this is… well, we made the children, and it’s our genes that got mixed up.” 1
Another question raised is that of enrollment in research. Many families consent to genetic testing without realizing their child’s data may be used for research purposes, often without direct feedback or personal benefit. Others are asked to consider enrolling their child in clinical trials, where the distinction between standard treatment and experimental research is not always clear.
What does it mean to be enrolled in research? While some see it as contributing to the greater good, others may not be aware of what participation involves - whether it’s how their data will be used or what enrolling in a clinical trial actually means. Are we failing to communicate the potential benefits and limitations in a way that builds trust and promotes informed decision-making? Is more transparency required to ensure families are kept up-to-date on the progress of the research? Do we need a clearer distinction between research protocols and standard care when clinical trials are introduced?
While genetic testing provides critical insights, its integration into pediatric oncology must be handled with sensitivity. This study not only highlights the need for a more structured, patient-centered approach but also raises broader questions: How can we ensure that consent is truly informed? What responsibility do researchers have in keeping participants engaged? As precision medicine continues to advance in pediatric oncology, these discussions will only become more important.
Genetic testing is an increasingly integral part of pediatric oncology, but this study underscores the complexities surrounding its implementation. Families are often introduced to genetic testing at a time of great stress when the urgency of treatment overshadows discussions about genetics. Many struggle to fully process or engage with the information, and the emotional weight of results, whether confirming a hereditary risk or leaving questions unanswered, can add another layer of difficulty.
Beyond the challenge of processing genetic information, this study also raises important questions about consent and enrollment. Families may consent to testing or clinical trials without fully understanding their implications, often seeing them as just another step in an overwhelming process. It is important to make sure that these conversations are truly informed rather than simply procedural.
These findings highlight the need for a more patient-centered approach to genetic testing in childhood cancer. Ensuring that families have the time, support, and psychological readiness to engage with genetic information will be key to making these insights truly meaningful. As genetic testing and precision medicine play a larger role in pediatric oncology, addressing these challenges will only become more important.