超过八成有乳腺或卵巢癌病史女性未接受基因检测

12-11 03:01 首页 SIBCS


  在美国,380万女性有乳腺癌或卵巢癌。多达15%的病例归因于可遗传突变,如被检出,可为治疗和预防医疗提供关键信息。目前尚不清楚多少突变高风险患者尚未被检出,以及风险率变化如何。


  2017年8月18日,美国临床肿瘤学会《临床肿瘤学杂志》在线发表洛杉矶加利福尼亚大学、普罗维登斯医院集团的研究报告,调查了全国有乳腺或卵巢癌病史女性的基因检测概况。


  该研究使用2005、2010、2015年全国健康问卷调查(全国个人入户面对面问卷调查)三个癌症对照模块的横断面汇总数据,患者筛选条件为成年女性、有乳腺癌和/或卵巢癌病史、根据诊断年龄和家族史符合2017年国家综合癌症网络(NCCN)资格标准。结局包括报告有与卫生专业人员讨论基因检测史、被建议接受过或正在接受乳腺癌或卵巢癌基因检测的个体比例。


  结果,在47218例女性中,2.7%有乳腺癌史,0.4%有卵巢癌史。


  对于乳腺癌,其中29.0%讨论过、20.2%被建议接受过、15.3%正在接受基因检测一级亲属有卵巢癌者检测率最低(6.2%),诊断时年龄≤45岁者检测率最高(18.2%)。


  对于卵巢癌,其中15.1%讨论过、13.1%被建议接受过、10.5%正在接受基因检测。仅使用四项乳腺癌资格标准和所有卵巢癌患者,估计有120至130万人未接受检测。


  因此,不到五分之一有乳腺癌或卵巢癌病史的个人符合选择NCCN标准接受了基因检测。大多数人从未与医疗保健提供者讨论基因检测。需要大量努力解决全国未被满足的基因检测需求。


  对此,哈佛医学院麻省总医院发表同期述评:关于基因检测,我们需要解决什么问题?


J Clin Oncol. 2017 Aug 18. [Epub ahead of print]


National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.


Childers CP, Childers KK, Maggard-Gibbons M, Macinko J.


David Geffen School of Medicine at University of California-Los Angeles; Fielding School of Public Health at University of California-Los Angeles; Providence Health & Services Southern California, Los Angeles, California.


PURPOSE: In the United States, 3.8 million women have a history of breast (BC) or ovarian cancer (OC). Up to 15% of cases are attributable to heritable mutations, which, if identified, provide critical knowledge for treatment and preventive care. It is unknown how many patients who are at high risk for these mutations have not been tested and how rates vary by risk criteria.


METHODS: We used pooled cross-sectional data from three Cancer Control Modules (2005, 2010, 2015) of the National Health Interview Survey, a national in-person household interview survey. Eligible patients were adult females with a history of BC and/or OC meeting select 2017 National Comprehensive Cancer Network eligibility criteria on the basis of age of diagnosis and family history. Outcomes included the proportion of individuals reporting a history of discussing genetic testing with a health professional, being advised to undergo genetic testing, or undergoing genetic testing for BC or OC.


RESULTS: Of 47,218 women, 2.7% had a BC history and 0.4% had an OC history. For BC, 35.6% met one or more select eligibility criteria; of those, 29.0% discussed, 20.2% were advised to undergo, and 15.3% underwent genetic testing. Testing rates for individual eligibility criteria ranged from 6.2% (relative with OC) to 18.2% (diagnosis ≤ 45 years of age). For OC, 15.1% discussed, 13.1% were advised to undergo, and 10.5% underwent testing. Using only four BC eligibility criteria and all patients with OC, an estimated 1.2 to 1.3 million individuals failed to receive testing.


CONCLUSION: Fewer than one in five individuals with a history of BC or OC meeting select National Cancer Comprehensive Network criteria have undergone genetic testing. Most have never discussed testing with a health care provider. Large national efforts are warranted to address this unmet need.


PMID: 28820644


DOI: 10.1200/JCO.2017.73.6314




J Clin Oncol. 2017 Aug 18. [Epub ahead of print]


Genetic Testing: What Problem Are We Trying to Solve?


Hughes KS.


Massachusetts General Hospital and Harvard Medical School, Boston, MA.


PMID: 28820645


DOI: 10.1200/JCO.2017.74.7899













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