Abstract
Objectives: Cascade testing for hereditary cancer syndromes has the potential to improve individual and population health outcomes. However, realizing such benefits relies on the successful execution of testing; currently, <30% of at-risk relatives complete cancer cascade testing. Barriers are likely complex and extend beyond the behaviors of individual patients. We aimed to investigate the literature on barriers to cascade testing for hereditary cancer syndrome using a multi-level approach focused on the socio-ecological model (SEM). Methods: We searched key electronic databases to identify studies evaluating barriers to cascade testing for hereditary cancer syndromes. Eligible studies were subjected to systematic review. The current study was conducted in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines and was preregistered with PROSPERO (registration number: CRD42020134276). Results: A total of 46 studies were included in the systematic review. Barriers to cascade testing and disclosure were represented by the SEM focusing on societal and policy, healthcare and community, interpersonal and individual factors (Figure 1). The most frequently reported barriers included: 1) Lack of cohesion within families (22 studies). Second- and third-degree relatives were less likely to learn of a mutation versus first-degree relatives due to physical and emotional distance; 2) Low perceived responsibility among probands to convey results (12 studies). Probands felt that healthcare professionals should shoulder the responsibility of informing relatives about genetic risk; 3) Gender (12 studies). Several studies confirmed that women are more likely to participate in cascade testing, with some authors arguing that women play a greater role in familial communication about hereditary cancer syndromes; 4) Lack of insurance (9 studies). Being uninsured was translated into poor execution of cascade testing; 5) Healthcare disparities (6 studies). Individuals from racial and ethnic minorities are less likely to complete genetic testing and cancer cascade testing. Objectives: Cascade testing for hereditary cancer syndromes has the potential to improve individual and population health outcomes. However, realizing such benefits relies on the successful execution of testing; currently, <30% of at-risk relatives complete cancer cascade testing. Barriers are likely complex and extend beyond the behaviors of individual patients. We aimed to investigate the literature on barriers to cascade testing for hereditary cancer syndrome using a multi-level approach focused on the socio-ecological model (SEM). Methods: We searched key electronic databases to identify studies evaluating barriers to cascade testing for hereditary cancer syndromes. Eligible studies were subjected to systematic review. The current study was conducted in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines and was preregistered with PROSPERO (registration number: CRD42020134276). Results: A total of 46 studies were included in the systematic review. Barriers to cascade testing and disclosure were represented by the SEM focusing on societal and policy, healthcare and community, interpersonal and individual factors (Figure 1). The most frequently reported barriers included: 1) Lack of cohesion within families (22 studies). Second- and third-degree relatives were less likely to learn of a mutation versus first-degree relatives due to physical and emotional distance; 2) Low perceived responsibility among probands to convey results (12 studies). Probands felt that healthcare professionals should shoulder the responsibility of informing relatives about genetic risk; 3) Gender (12 studies). Several studies confirmed that women are more likely to participate in cascade testing, with some authors arguing that women play a greater role in familial communication about hereditary cancer syndromes; 4) Lack of insurance (9 studies). Being uninsured was translated into poor execution of cascade testing; 5) Healthcare disparities (6 studies). Individuals from racial and ethnic minorities are less likely to complete genetic testing and cancer cascade testing.
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