Breaking Down the Barriers of Hereditary Cancer Risk Disclosure in AYA Free

Our understanding of hereditary cancer predisposition continues to expand, with more than 100 genes and associated syndromes already identified.¹  With an estimated 17.5% of patients with cancer having germline cancer–predisposing mutations, expanded genetic testing continues to detect potentially affected families.²  Adolescents and young adults (AYAs) are often included in this testing, even when the mutations identified are associated with later-onset disease. This diagnostic expansion amplifies the need for pediatricians to know how to best support these patients, including counseling about mitigating cancer-risk behaviors and managing any associated psychosocial impact. Further study is needed to identify this impact and evaluate whether knowledge of hereditary cancer risk in these patients elicits a different psychosocial reaction than knowledge of their family history of cancer alone.

In this issue of Pediatrics, McDonnell et al³  present results from a cross-sectional, mixed-methods study evaluating AYA patients whose mothers have undergone BRCA testing. This study is a continuation of their well-established research base on hereditary breast/ovarian cancer risk communication in families.^4–6  In this latest evaluation, they included participants with BRCA+ (17.3%) and BRCA– (82.7%) mothers and therefore established a novel control group who were similarly affected by family history of breast cancer. Multivariate analysis of these 2 groups showed that there was no statistically significant difference in either health-promoting or health-compromising cancer risk behaviors. This is in line with previous studies of psychosocial adjustment in AYA populations with a family history of breast cancer,^7–9  supporting the authors’ conclusion that AYAs, in general, adapt well to learning of their mothers’ BRCA status.

The current study indicated that many AYA participants will exhibit concern over personal cancer risk based on their family history alone, even in the absence of a familial mutation. This is congruent with the clinical experience of the authors of this commentary who have observed that although many parents are apprehensive about communicating a positive genetic testing result to their child, the lack of communication can foster misinformation, create an assumption that cancer risk is higher than it is, and suggest to a teenager or young adult that broaching the topic of familial cancer with their parent is taboo. Uncertainties regarding the readiness of AYAs to receive this information appear to affect parental disclosure despite growing research suggesting that AYAs welcome and adapt well to this information.^7,10  Health care providers should encourage a partnership among stakeholders (parents, pediatricians, genetic counselors) to identify developmentally appropriate content while acknowledging that the optimal age to disclose hereditary cancer risks to AYAs is individualized. Many resources are available to aid families in discussing genetic test results with children and AYAs such as “FAP & Me for Kids”¹¹  and “Talking about BRCA in Your Family Tree.”¹² 

Studies like this one could also help determine the appropriate timing of testing AYAs for adult-onset cancer syndromes. The question of whether to perform genetic testing in children for adult-onset diseases has been debated for decades, with the seminal papers on the topic developed in the context of Huntington disease.^13,14  Since these early studies, a professional consensus, solidified by the position statement from the American Academy of Pediatrics/American College of Medical Genetics, has persisted in discouraging genetic testing for adult-onset syndromes when no medical interventions in childhood might reduce morbidity or mortality.¹⁵  Using the core principals found in the American Academy of Pediatrics/American College of Medical Genetics position paper, Garrett et al¹⁶  presented a nuanced framework to better guide personalized decisions in genetic testing for pediatric patients. In addition to the potential for incidental findings on genomic testing, research has shown that syndromes traditionally recognized as adult onset, including Lynch syndrome, a condition predisposing to cancers like colorectal cancer from inherited DNA mismatch repair mutations, may also be associated with pediatric cancer risks.¹⁷  As scenarios such as cases of incidental findings via genomic testing and identifying younger presentation of hereditary cancer syndromes increase, and more patients fall within the individualized frameworks for testing, there is an expanding need for studying the psychological impact on AYA patients.

Limitations of this study include a small proportion of the sample size with a genetic mutation in the family, as well as a predominantly non-Hispanic white sample demographic, which affects generalizability to members of underrepresented racial and ethnic groups. Despite these limitations, the study aids in breaking down barriers to disclosing hereditary cancer risk in AYAs by concluding that the disclosure of BRCA results is not associated with increased cancer risk behavior or psychological distress. It does this while establishing a framework to quantitatively analyze the psychological impact of hereditary cancer predisposition risk in the AYA population. Pediatricians are the health care providers who are at the forefront of identifying this otherwise healthy patient population and working through barriers to hereditary cancer risk disclosure. By leveraging genetic counselors and published resources for families with hereditary cancer syndromes, pediatricians can ensure that these patients have the tools to integrate their family history of cancer or hereditary predisposition into their self-identity in a safe and open environment that fosters learning and open communication.