ASCO 2024: Survey shows challenges in genetic testing in families with hereditary cancer syndromes
Writer: Eric Olsen | Media Contact: Nicole Fawcett; <a data-cke-saved-href="tel:" href="tel:" 734-764-2220"="">734-764-2220 | Patients may contact Cancer AnswerLine™ 800-865-1125

CHICAGO—According to preliminary findings from a survey led by Rogel researcher Steven Katz, M.D., MPH, a professor of health management and policy, the ability to fully realize genetic testing among family members of patients is mitigated by several factors.
In the survey, attitudes and engagement about cascade genetic testing in a population-based cohort of women diagnosed with cancer, Katz and colleagues selected patients from the Georgia California Genetic Linkage Initiative who were diagnosed with cancer between 2013 and 2019. From that group, the team surveyed 2100 women in those two states who were diagnosed with breast, ovarian, and uterine cancer during the years 2018-19, and who reported a pathogenic variant that increases the risk of cancer. They also surveyed a comparable sample of 1300 women who reported a variant of uncertain significance.
The preliminary results of the survey noted that an initial potential challenge lay in the patients bearing primary responsibility for engaging family members, with minimal clinical support in doing so.
But more significantly, the survey found that patients who reported a pathogenic variant were more likely to have informed their relatives about their test results, to believe that testing for family members was important, and to actively endorse testing for their relations. Of this group, a significant portion reported that a genetic counselor encouraged them to discuss test results with their relatives and spoke directly with their relatives.
Conversely, patients who had reported a reported a variant of uncertain significance were less likely to see the utility in the utility of testing in relatives, or to inform relatives about their test result. For this group, it was less likely that a genetic counselor encouraged family engagement or spoke directly to family about testing.
“We found that women with PVs (pathogenic variants) were far more inclined to have a positive attitude toward cascade genetic testing,” said Katz. “They were also far more likely to recall in some detail their test results. Women who reported a VUS (variant of uncertain significance) did not share that same attitude, nor, interestingly, were they able to recall many of the details of the test.”
“These findings suggest that patient perception of the clinical relevance of the test results informs their attitude toward family genetic testing.”
This study was funded by the NCI Biden Moonshot (U01CA254822) and the American Cancer Society(RSG-20-025-01).