Cancer Genetics, The Royal Marsden NHS Foundation Trust, Downs Road, Sutton, Surrey, SM2 5PT, UK.
Fam Cancer. 2012 Mar;11(1):107-13. doi: 10.1007/s10689-011-9482-6.
At present cancer genetics referrals are reactive to individuals asking for a referral and providing a family history thereafter. A previous pilot study in a single General Practice (GP) catchment area in North London showed a 1.5-fold increase in breast cancer risk in the Ashkenazi Jewish population compared with the non-Ashkenazi mixed population. The breast cancer incidence was equal in the Ashkenazim in both pre- and postmenopausal groups. We wanted to investigate the effect of proactively seeking family history data from the entire female population of the practice to determine the effect on cancer genetics referral. Objectives To determine the need for cancer genetics intervention for women in a single GP catchment area. (1) to determine the incidence and strength of family history of cancer in women aged over 18 in the practice, (2) to offer cancer genetics advice and determine the uptake of counselling in those with a positive family history, (3) to identify potential BRCA1/BRCA2 gene mutation carriers who can be offered clinical follow up with appropriate translational research studies. Design Population-based cohort study of one General Practice female population. Participants Three hundred and eighty-three women over the age of 18 from one General Practice who responded to a questionnaire about family history of cancer. The whole female adult GP population was the target and the total number sampled was 3,820. Results 10% of patients completed the questionnaire (n = 383). A family history of cancer was present in 338 cases, 95 went on to have genetic counselling or had previously had counselling and 47 were genetically tested. We identified three carriers of an Ashkenazi Jewish founder mutation in BRCA1. Conclusions Response rate to a family history questionnaire such as that used in genetics centres was low (10%) and other approaches will be needed to proactively assess family history. Although the Ashkenazim are present in 39% of the GP catchment area, 62% of those who returned a family history questionnaire were from this ethnic group and of those returned, 44% warranted referral to a cancer genetics unit. In the non Ashkenazim, the questionnaire return rate was 38% and 18% of those warranted referral to cancer genetics.
目前，癌症遗传学转诊是针对那些主动要求转诊并提供家族病史的个体的。在伦敦北部一个普通诊所（GP）的一个试点研究中，与非阿什肯纳兹混合人群相比，阿什肯纳兹犹太人群的乳腺癌风险增加了 1.5 倍。在绝经前和绝经后组中，阿什肯纳兹人的乳腺癌发病率是相等的。我们想调查从整个诊所的女性人群中主动获取家族病史数据的效果，以确定其对癌症遗传学转诊的影响。目的：确定在一个普通诊所的女性中进行癌症遗传学干预的必要性。（1）确定该诊所 18 岁以上女性的癌症家族史发生率和强度，（2）为有阳性家族史的女性提供癌症遗传学咨询并确定咨询的接受率，（3）确定可以提供临床随访和适当转化研究的潜在 BRCA1/BRCA2 基因突变携带者。设计：一个普通诊所女性人群的基于人群的队列研究。参与者：来自一个普通诊所的 18 岁以上的 383 名女性，她们对有关癌症家族史的问卷做出了回应。普通诊所的所有成年女性人群都是目标人群，总共抽取了 3820 名。结果：10%的患者完成了问卷调查（n=383）。有 338 例患者有癌症家族史，其中 95 例接受了遗传咨询或之前已接受过咨询，47 例接受了基因检测。我们发现了三个携带阿什肯纳兹犹太裔 BRCA1 创始突变的携带者。结论：对遗传中心使用的家族史问卷的响应率很低（10%），需要其他方法来主动评估家族史。尽管阿什肯纳兹人在 GP 诊所的人群中占 39%，但返回家族史问卷的人中 62%来自这个族群，而在返回问卷的人中，44%需要转介到癌症遗传学单位。在非阿什肯纳兹人群中，问卷的回复率为 38%，其中 18%需要转介到癌症遗传学。
