Barriers to Cancer Risk Disclosure and Cascade Testing in Families of Young Adult Cancer Survivors: A Cancer Moonshot Study

Introduction: When an individual tests positive for a genetic cancer risk variant, disclosure to biological family members enables them to pursue “cascade” testing. Cascade testing is an evidence-based strategy to identify cancer risk in blood relatives so they can access risk management care. Despite robust evidence to support cascade testing to reduce relatives’ cancer morbidity and mortality, uptake remains low. The confluence of a cancer diagnosis and genetic testing may complicate disclosure of genetic risk to loved ones, particularly for young adults (YA; 18-40 years) who are preoccupied with cancer treatment, the transition to survivorship care, and normative developmental tasks. YA cancer patients and survivors report unmet informational and psychological needs and social difficulty that makes them a vulnerable and underserved population. This study used an ecological systems framework to identify multi-system barriers to YA disclosure of cancer risk information that would enable familial cascade testing.

Methods: Twenty-three YA cancer survivors (median age 36, range 21-40, 13 female) who tested positive for a pathogenic/likely pathogenic cancer variant completed open-ended interviews. Time since cancer diagnosis was median=5 months (range=0-23). The analytic team employed inductive thematic content analysis on digitally recorded verbatim transcripts to identify latent and manifest barriers to cascade testing in kindreds. Categories were then compared to extant literature to identify novel factors across systems levels.

Findings: Although genetic testing at time of cancer diagnosis supported informed treatment planning, information overload and cancer-related distress across families minimized the priority of sharing cancer risk information during treatment. Further, all participants identified additional, cumulative barriers to disclosing cancer risk information to at least some relatives. Family-level barriers included the lack of relationship closeness, family response to and involvement in the YA’s cancer care, perceived low risk tolerance, psychiatric disorders, and pre-existing cultural practices. These challenges often outweighed perceived relevance or severity for relatives in determining disclosure patterns.

Participants also discussed perceived barriers to cascade testing for relatives which shaped information sharing. These issues included worry about cost and insurance coverage for testing and subsequent preventive care, limited access to specialized care, perceived low health and genetic literacy, and geographic distance. Participants saw value in health care teams facilitating disclosure, yet most believed the primary responsibility for such disclosure belonged within families. Some YA reported that family health-related communication improved due to their cancer trajectory, creating possibilities for expanded disclosure and cascade testing over time.

Discussion: Social workers are well placed to partner with genetic specialists to evaluate and address pre-existing and cumulative factors, and the novel complications caused by a YA cancer diagnosis, that shape disclosing cancer risk information in families. Such disclosure is necessary, but likely insufficient to facilitate cascade testing. Social workers may be critical to designing targeted interventions that engage YA as they transition into survivorship care and that support families to minimize identified barriers for relatives who might benefit from cascade testing. Such interventions may optimally target developmental, family, and cultural processes to enable informed decision making about communication of genetic cancer risk across kindreds.