Institut Curie, Supportive Care Department, Psycho-oncology Unit, PSL University, Paris, France.
Psychology Institute, Psychopathology and Health Process Laboratory, University of Paris, Boulogne-Billancourt, France.
Clin Genet. 2022 Jul;102(1):30-39. doi: 10.1111/cge.14147. Epub 2022 May 16.
Counseling for familial breast cancer focuses on communicating the gene test result (GENE) to counselees, but risk prediction models have become more complex by including non-genetic risk factors (NGRF) and polygenic risk scores (PRS). We examined genetic clinicians' confidence in counseling and counselees' psychosocial outcomes, using the BOADICEA risk prediction tool with different categories of risk factors as input. A prospective observational study in Dutch, French and German genetic clinics was performed including 22 clinicians, and 406 of 460 (88.3%) eligible cancer-unaffected women at high breast cancer risk assessed at pre-test and 350 (76.1%) at post-test. We performed multilevel analyses accounting for the clinician, and counselees' characteristics. Overall, risk estimates category by GENE versus GENE+ NGRF, or GENE+NGRF+PRS differed in 11% and 25% of counselees, respectively. In multilevel analyses, clinicians felt less confident in counseling when the full model provided lower breast cancer risks than GENE (i.e., in 8% of cases). Older counselees expressed higher breast cancer risk perception and worries about the hereditary predisposition when the full model provided higher breast cancer risks than GENE only. Genetic clinicians appear confident with breast cancer risk comprehensive models, which seem only to affect perceptions of older counselees.
家族性乳腺癌咨询的重点是向咨询者传达基因检测结果（GENE），但风险预测模型变得更加复杂，包括非遗传风险因素（NGRF）和多基因风险评分（PRS）。我们使用 BOADICEA 风险预测工具，以不同类别的风险因素作为输入，检查了遗传临床医生在咨询中的信心和咨询者的心理社会结果。这是一项在荷兰、法国和德国遗传诊所进行的前瞻性观察研究，包括 22 名临床医生和 406 名（88.3%）在预测试中评估为高乳腺癌风险且未患癌症的合格女性，以及 350 名（76.1%）在 post-test 中。我们进行了多层次分析，考虑了临床医生和咨询者的特征。总体而言，风险估计类别根据 GENE 与 GENE+NGRF 或 GENE+NGRF+PRS 在 11%和 25%的咨询者中有所不同。在多层次分析中，当完整模型提供的乳腺癌风险低于 GENE 时（即 8%的情况下），临床医生在咨询时会感到信心不足。当完整模型提供的乳腺癌风险高于 GENE 时，较年长的咨询者对乳腺癌风险的感知更高，对遗传性易感性的担忧也更高。遗传临床医生似乎对乳腺癌风险综合模型有信心，这些模型似乎只影响年长咨询者的看法。
