Familial Risk of Cancer and Knowledge and Use of Genetic Testing
Familial Risk of Cancer and Knowledge and Use of Genetic Testing
复制标题
DOI：
10.1007/s11606-010-1334-9
复制
发表时间：
2010-07-01
影响因子：
5.7
通讯作者：
Haas, Jennifer S.
中科院分区：
文献类型：
--
作者：
Baer, Heather J.;Brawarsky, Phyllis;Haas, Jennifer S.
确定包括癌症在内的常见疾病的遗传风险因素，突出了家族风险评估的重要性。人们对普通人群的家族性癌症风险模式知之甚少，也不知道这种风险是否与基因检测的知识和使用有关。研究美国家族性癌症风险的分布及其与基因检测的关系。2005年全国健康访谈调查（NHIS）的横断面分析。31428名成年人完成了NHIS癌症控制补充家族性癌症风险的估计是基于患有乳腺癌和卵巢癌综合征（BRCA）或与lynch相关的癌症的一级亲属数量，发病年龄（< 50或千分之一），以及任何癌症的个人病史。结果包括听说过基因检测，与医生讨论过基因检测，被医生建议进行检测，并接受了基因检测。大多数成年人（84.5%）没有BRCA或Lynch综合征相关癌症的家族史；12.9%有单一一级亲属（5.3%早发）；2.7%的人有千分之一日元的一级亲属。尽管40.2%的成年人听说过癌症风险的基因检测，但这些人中只有5.6%的人与医生讨论过检测，其中36.9%的人被建议进行检测。总体而言，只有1.4%听说过基因检测的成年人接受了检测。家族风险与较高的检测率相关；在高危人群中，49.5%的人听说过基因检测，其中14.8%的人与医生讨论过，4.5%的人接受过基因检测。这些具有全国代表性的数据提供了对美国家族性癌症风险患病率的估计，并表明有关基因检测的信息并未到达遗传性癌症风险较高的人群。
Identification of genetic risk factors for common diseases, including cancer, highlights the importance of familial risk assessment. Little is known about patterns of familial cancer risk in the general population, or whether this risk is associated with knowledge and use of genetic testing.To examine the distribution of familial cancer risk and its associations with genetic testing in the United States.Cross-sectional analysis of the 2005 National Health Interview Survey (NHIS).31,428 adults who completed the NHIS Cancer Control Supplement.Familial cancer risk was estimated based on the number of first-degree relatives with a breast and ovarian cancer syndrome (BRCA)- or a Lynch-associated cancer, age of onset (< 50 or a parts per thousand yen50 years), and personal history of any cancer. Outcomes included having heard of genetic testing, discussed genetic testing with a physician, been advised by a physician to have testing, and received genetic testing.Most adults (84.5%) had no family history of BRCA- or Lynch syndrome-associated cancer; 12.9% had a single first-degree relative (5.3% with early onset); and 2.7% had a parts per thousand yen2 first-degree relatives. Although 40.2% of adults had heard of genetic testing for cancer risk, only 5.6% of these individuals had discussed testing with a physician, and of these 36.9% were advised to be tested. Overall, only 1.4% of adults who had heard of genetic testing received a test. Familial risk was associated with higher rates of testing; 49.5% of participants in the highest risk group had heard of testing, of those 14.8% had discussed it with their physician, and 4.5% had received genetic testing.These nationally representative data provide estimates of the prevalence of familial cancer risk in the US and suggest that information about genetic testing is not reaching many at higher risk of inherited cancer.