In treating childhood cancers, genetic testing is already part of the diagnostic process and helps choose the best possible treatment. Variants detected by sequencing the cancer cell genome can guide the study of the germline. Genetic alterations in the germline that predispose to cancer are found in 10% to 20% of tested children. Therefore, investigation of genetic alterations in cancer cells can often lead to genetic testing of siblings, parents, and family members. For identified genetic variants that cause hereditary cancer, there are increasing recommendations for follow-up. The identification of cancer susceptibility syndromes therefore also influences cancer prevention and cancer treatment planning.

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 analysis is a qualitative method that allows researchers to shed light on the construction of personal meanings around genetic testing and to systematically explore parents’ interpretations and narratives, thus identifying themes and other factors of personal significance. Such an approach seeks to understand an individual life event as part of a larger and unique context; what happened does not in itself elicit a psychological response, but rather an interpretation of what happened. A qualitative sub-study of the Dynamics of meaning crises and the factors that influence them aims to complement our understanding of the psychological response to Genetic test results. These findings will help to create better models of genetic counseling.

A better understanding of the Psychological impact of Genetic testing will help us decide how best to communicate Genetic test results to families, how to help families adjust to them, and how to promote Tailoring of care for patients diagnosed with cancer susceptibility syndrome.

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.


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