Oncological Genetic Counseling in Hereditary Breast and Ovarian Cancers and Lynch Syndrome High-Risk Subjects: Evaluation of Efficacy and Outcomes Using the Genomics Outcome Scale

针对遗传性乳腺癌、卵巢癌和林奇综合征高危人群的肿瘤遗传咨询:使用基因组学结果量表评估疗效和结果

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Abstract

BACKGROUND: Validated tools assessing oncological genetic counseling (OGC) quality are lacking. METHODS: We assessed OCG effectiveness using italian-translated version of the Genomics Outcome Scale (GOS) questionnaire. Clinical variables were collected and their association with different answers was assessed by Fisher's exact test or Chi-square test for either dichotomous or other categorical variables, respectively, with level of statistical significance p = 0.05. RESULTS: Between November 2024 and February 2025, 209 subjects who received the complete OGC program at Our Center responded to the questionnaire; median age was 56 years (25-81). Most (76%) had breast cancer, 72% received a negative test, 15% positive test, and 13% noninformative test with variant of unknown significance (VUS). Most patients answered affirmatively to Question 1, focused on OGC understanding: age (p = 0.0181) and education (p = 0.0028) yielded different answers. Question 2, assessing relatives risk understanding, was answered completely/partially affirmative by 94% of subjects: test result (negative noninformative vs. positive vs. VUS) was associated (p = 0.0175) with different answers. To Question 3, related to concern, 65% confirmed their worry: education (p = 0.0392) and cancer type (p = 0.0128) yielded different answers. In Question 4, focused on surveillance understanding, 77% declared full or partial awareness, regardless of examined factors. In Question 5, enquiring decisional ability for themselves or family members, 72% stated they were completely/partially able to make decisions. Education (p = 0.0287) and genetic test result (p = 0.0090) yielded different answers. In Question 6, reflecting future planning, 69% responded completely/almost completely affirmatively, 17% were uncertain, and 14% responded partially/completely negatively, regardless of examined clinical factors. CONCLUSIONS: GOS questionnaire confirms that OGC is useful and effective to inform patients about their condition, surveillance, and prevention. Higher levels of empowerment were seen in younger patients and those with higher education.

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