Kishan Amar U, Gomez Caitlin L, Dawson Nicole A, Dvorak Robyn, Foster Nova M, Hoyt Anne, Hurvitz Sara A, Kusske Amy, Silver Erica L, Tseng Charles, McCloskey Susan A
Department of Radiation Oncology, University of California, Los Angeles, CA, USA.
Department of Pathology and Laboratory Medicine, University of California, Los Angeles, CA, USA.
Ann Surg Oncol. 2016 Dec;23(Suppl 5):634-641. doi: 10.1245/s10434-016-5545-0. Epub 2016 Sep 12.
Findings show that 5-10 % of women with a diagnosis of breast cancer (BCa) have actionable genetic mutations. The National Comprehensive Cancer Network guidelines for testing to detect BRCA1/2 mutations include personal history (PH) variables such as age of 45 years or younger and a family history (FH) variables. Rates of FH documentation and overall rates of appropriate referral for genetic testing are low, ranging from about 30 to 60 %. The authors hypothesized that an upfront FH documentation and inclusion of a genetics counselor in a multidisciplinary clinic (MDC) setting would increase rates of appropriate referral for genetic testing.
The study enrolled 609 consecutive women with non-metastatic BCa seen in consultation between June 2012 and December 2015 at a multidisciplinary clinic. Rates of FH documentation and referral for genetic testing to detect BRCA1/2 mutations were assessed before and after inclusion of a genetic counselor in the MDC.
The rates of FH documentation and appropriate referral were 100 and 89 %, respectively. Half (50 %) of the patients had only FH-based indications for testing. All the patients with PH-based indications were referred. The inclusion of a genetic counselor significantly increased appropriate referral rates among those with only FH-based indications (62 vs. 92 %) and overall (80 vs. 96 %) (p < 0.0001 for both). Among the 12 % of the patients with actionable mutations, 60 % were 45 years of age or younger, whereas 30 % had only FH-based testing indications.
This report shows substantially higher FH documentation and appropriate genetic testing rates than prior reports. Many patients with indications for genetic testing may have only FH-based indications for testing, and this subset may account for the sizable proportion of patients with newly diagnosed BCa who have actionable mutations.
研究结果显示，5%至10%被诊断患有乳腺癌（BCa）的女性存在可采取行动的基因突变。美国国立综合癌症网络关于检测BRCA1/2突变的指南包括个人史（PH）变量，如45岁及以下年龄，以及家族史（FH）变量。FH记录率和基因检测的适当转诊总率较低，约为30%至60%。作者推测，在多学科诊所（MDC）环境中预先进行FH记录并纳入遗传咨询师将提高基因检测的适当转诊率。
该研究纳入了2012年6月至2015年12月期间在一家多学科诊所会诊的609例连续的非转移性BCa女性患者。在MDC中纳入遗传咨询师之前和之后，评估了FH记录率和检测BRCA1/2突变的基因检测转诊率。
FH记录率和适当转诊率分别为100%和89%。一半（50%）的患者仅有基于FH的检测指征。所有有基于PH指征的患者均被转诊。纳入遗传咨询师显著提高了仅有基于FH指征患者（62%对92%）以及总体患者（80%对96%）的适当转诊率（两者p均<0.0001）。在12%存在可采取行动突变的患者中，60%年龄在45岁及以下，而30%仅有基于FH的检测指征。
本报告显示FH记录率和适当基因检测率比之前的报告高得多。许多有基因检测指征的患者可能仅有基于FH的检测指征，并且这一亚组可能占新诊断BCa且存在可采取行动突变患者的相当大比例。
