A prospective survey of patients’ understanding on the genetic tests for cancer genetic syndromes.

Abstract

e23159 Background: Genetic testing has been performed more frequently and widely in cancer patients owing to the benefits of treatment planning, prophylactic surgeries for patients and family mutation carriers. However, a portion of the patients undergoing genetic testing may not fully understand their test results and may experience emotional distress when learning the information. Methods: We carried out a prospective questionnaire study surveying participants undergoing cancer care at Maimonides Cancer Center who had genetic testing (despite positive or negative results) between January 2010 and March 2024. We evaluated the patients’ understanding of their genetic testing results and impact of their genetic testing results on their emotional status. Fisher’s exact test is used to evaluate whether factors of race, education level, immigration status, first language being English or not would influence their understanding. Results: A total of 388 patients with breast cancer were included, and 13.14% (n = 51) had germline mutations. The mutation concordance rate (patients correctly recall their positive or negative mutational status) was 78.61% overall; and 60.78% vs 81.01% in mutation carriers vs non-mutation carriers respectively (p = 0.286). There were no other significant influence noted in patients’ overall mutation concordance rate based on categories of mutation, race, education, immigration status, marital status and first language spoken. In mutation positive group of 51 patients, the mutation concordance rate was 53.86% in the immigrants compared to US born (68.00%) (p = 0.654); and 67.75% in the English speaking, vs 50% in the English not first speaking language group (p = 0.638). The emotional states of the patients after learning their genetic testing results were mostly “relieved” (n = 220, 56.70%), as compared to “distressed” (n = 122, 31.44%), “learning more knowledge” (n = 50, 12.89%). There were no noticeable differences between the mutation carriers and non mutation carriers based on the similar factors studied for mutation concordance, including race, educational level, immigration status or first language use. Conclusions: The correctness of patients understanding of their positive genetic testing results was only 60%, and was even lower in immigrants or non-English speaking patients. The influence in the understanding was not due to language speaking or other socioeconomic status, it is likely due to the complexity of the medical knowledge. Thirty-one percent of the patients reported “distressed” emotional status after learning their mutation test result regardless if they carry mutation or not. It is imperative for the medical society as a whole to improve education on patient’s awareness of their mutation status, as well as providing psychological and social support while delivering test results.