Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer.

Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer.
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DOI:
10.1038/gim.2013.43
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发表时间:
2013-12
期刊:
Genetics in medicine : official journal of the American College of Medical Genetics
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研究综合医疗机构中转移性结直肠癌(mCRC)患者的Lynch综合征(LS)筛查。我们确定了2004-2009年间在癌症研究网络(CRN)的7个机构中诊断为mCRC的1,188例患者的LS筛查标准和实际LS筛查的可用性。我们发现很少使用LS筛查(41/1188)。1188例患者中有937例(79%)有家族史。在937例有家族史记录的患者中,719例(77%)有足够的信息使用基于家族史的标准评估LS风险。在391名有LS相关癌症家族史的个体中,107名(27%)由于癌症发病年龄等信息缺失而无法进行评估。11%符合Bethesda标准的患者和25%符合Amsterdam II标准的患者接受了LS筛查。当筛选发生时,它遵循推荐的指南,但没有首选的测试方法。一次总付筛选决定所需的信息是例行收集的,但很少使用。在收集家族史和将其用于指导LS筛查之间存在关键差距,这可能支持实施普遍筛查指南。
To examine Lynch Syndrome (LS) screening of metastatic colorectal cancer (mCRC) patients in integrated healthcare delivery organizations. We determined the availability of LS screening criteria and actual LS screening in the medical records among 1,188 patients diagnosed with mCRC between 2004–2009 at seven institutions in the Cancer Research Network (CRN). We found infrequent use of LS screening (41/1188). Family history was available for 937 of the 1188 patients (79%). There was sufficient information to assess LS risk using family history based criteria in 719 of the 937 patients (77%) with family history documentation. In 391 individuals with a family history of a LS-associated cancer, 107 (27%) could not be evaluated due to missing information such as age of cancer onset. Eleven percent of patients who met Bethesda criteria and 25% of individuals who met the Amsterdam II criteria were screened for LS. When screening occurred, it followed recommended guidelines, but no testing method was preferred. The information required for LS screening decisions is routinely collected but seldom utilized. There is a critical gap between collection of family history and its use to guide LS screening, which may support a case for implementation of universal screening guidelines.
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