Research
In the treatment of childhood cancers, genetic testing is already part of the diagnostic process and helps to optimize treatment. When sequencing the cancer cell genome, identified genetic defects can guide the investigation of the germline, the genetic material that is passed down the lineage. Genetic defects in the germline that predispose to cancer are found in 10 to 20% of tested children with cancer. So testing for genetic changes in cancer cells can lead to genetic testing of siblings, parents, and other family members. Genetic defects may also be found when genes are studied for other reasons. Identified genetic variants that cause hereditary cancer increasingly have follow-up guidelines. Hence, the identification of cancer predisposition syndromes also has implications for planning cancer prevention and treatment.
The impact of genetic testing
The testing of hereditary cancer susceptibility has raised general concerns about the negative impact of genetic testing and the potential additional psychological burden on the patient and family. These concerns, rooted in the key bioethical principle maxim primum non nocere (first do no harm), have long provided a rationale for either preventing or strictly regulating access to genetic risk information. However, recent research suggests that fears of significant negative psychosocial effects of testing are overblown and that a paternalistic approach to genetic susceptibility testing undermines both patient and family autonomy. Studies have shown that parents perceive genetic testing to be beneficial in varying ways. Even if the results did not affect the child’s current treatment, parents expressed optimism about future clinical benefits for their child, themselves, and other family members. Parents also reported peace of mind and a reduction in guilt. They also described experiencing tangible benefits, such as an improved ability to plan for the future and new pregnancies. There have been mixed results on psychological responses to genetic testing, particularly in the pediatric context. In addition to relatively stronger feelings of anxiety and uncertainty, more positive experiences have been reported among participants.
While the majority of parents perceive genetic testing as beneficial and have even seen an increase in mental well-being, the studies also show a smaller subset experiencing adverse psychological effects such as shock and anxiety from receiving the test results. Exploring these less common negative experiences may help identify risk factors that contribute to the anxiety and reduced quality of life associated with the identification of hereditary cancer susceptibility. Examining parents’ experiences, beliefs, and personal understanding of cancer susceptibility syndrome prior to genetic testing may help to identify explanatory factors for subsequent psychological outcomes and parental decisions.
Considering the broader story
Narrative (hermeneutical) analysis is a qualitative method that allows researchers to shed light on the personal meanings associated with genetic testing and to systematically explore parental interpretation and narration. A small number of parents participating in the study will be interviewed to assess the applicability of this method in the context of childhood cancer predisposition. This will hopefully allow the identification of interpretations, themes, and other narrative elements that influence overall well-being. This type of approach perceives an individual life event as partial to its broad and unique context; it is not the event itself that produces a psychological response, but the interpretation of that event. This qualitative sub-study on the dynamics of meaning crises and the factors that influence them aims to complement our understanding of the psychological outcomes of genetic testing. These findings will help to enrich genetic counseling by making it more considerate of personal needs.
A deeper understanding of the psychology around genetic testing will help us to communicate genetic test results to families in optimal ways. The interviews will inform how we can better support parents in adapting to the test results, for example by providing them with interpretive resources.
Research objectives
The purpose of this study is to systematically assess the psychological and clinical consequences observed in families with or without a diagnosis of cancer susceptibility syndrome through genetic testing. The aim is to identify factors that result in different responses among parents. Based on these findings, the final objective is to create a uniform national model of genetic counseling for pediatric cancer and hematology units.
This research project will provide important information to inform clinical practice in pediatric cancer, including at what stage of the disease Genetic counseling is most beneficial, how, and with what population. These findings will be important for the future design of the structure of pediatric cancer units and the genetic counseling provided there. By studying the psychosocial factors that influence the uptake of genetic counseling, we can find ways to support families’ autonomy in decision-making and provide them with more tailored support.
We do international research cooperation with other study groups behind similar projects. Research on the psychological effects of genomic information has also started in other Nordic countries; our partners are Norway’s PROTECT, Denmark’s STAGING, and Sweden’s ChiCaP projects.