Peterson Susan K, Pentz Rebecca D, Blanco Amie M, Ward Patricia A, Watts Beatty G, Marani Salma K, James Leslie Colvin, Strong Louise C
Depatment of Behavioral Sciences-Unit 330, The University of Texas M. D. Anderson Cancer Center, Houston, TX 77230-1439, USA.
Genet Med. 2006 Apr;8(4):226-33. doi: 10.1097/01.gim.0000214632.52958.01.
Li-Fraumeni syndrome (LFS) is associated with p53 germline mutations, and carriers are at increased risk for multiple primary cancers. We evaluated outcomes following the administration of a video-based decision aid (DA) prior to clinical p53 genetic counseling and testing among persons who had previously participated in cancer genetics research.
Fifty-seven individuals at risk for a known p53 mutation completed baseline and post-DA measures of psychological outcomes, plus knowledge and attitudes regarding p53 genetic testing. Counseling and testing uptake also was recorded.
At baseline, multivariate analysis showed that greater testing intention was associated with lower decisional conflict (P < 0.01). Compared with baseline data, multivariate analyses of post-DA outcomes showed that knowledge about LFS and genetic testing increased and decisional conflict related to testing decreased (P < 0.001). Mean cancer worries scores decreased among all participants (P < 0.001), and mean depression scores decreased for males (P < 0.05). Thirty-nine (68%) completed pre-test genetic counseling and 23 (40%) subsequently gave a blood sample for clinical genetic testing.
This intervention was useful as an initial outreach and educational method for families considering p53 genetic testing, and may improve knowledge about LFS as well as psychological outcomes.
李-弗劳梅尼综合征（LFS）与p53种系突变相关，携带者患多种原发性癌症的风险增加。我们评估了在临床p53基因咨询和检测之前，对曾参与癌症遗传学研究的人员给予基于视频的决策辅助工具（DA）后的效果。
57名有已知p53突变风险的个体完成了心理结果的基线和DA后测量，以及关于p53基因检测的知识和态度。还记录了咨询和检测的接受情况。
在基线时，多变量分析表明，更高的检测意愿与更低的决策冲突相关（P<0.01）。与基线数据相比，DA后结果的多变量分析表明，关于LFS和基因检测的知识增加，与检测相关的决策冲突减少（P<0.001）。所有参与者的平均癌症担忧得分降低（P<0.001），男性的平均抑郁得分降低（P<0.05）。39人（68%）完成了检测前的基因咨询，23人（40%）随后提供了血液样本用于临床基因检测。
对于考虑进行p53基因检测的家庭，这种干预作为一种初步的外展和教育方法是有用的，并且可能改善关于LFS的知识以及心理结果。
