Ordering molecular genetic tests and reporting results - Practices in laboratory and clinical settings
Ordering molecular genetic tests and reporting results - Practices in laboratory and clinical settings
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DOI：
10.2353/jmoldx.2008.080050
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发表时间：
2008-09-01
影响因子：
4.1
通讯作者：
McGovern, Margaret M.
中科院分区：
文献类型：
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作者：
Lubin, Ira M.;Caggana, Michele;McGovern, Margaret M.
先前的研究表明，在报告分子基因检测结果的病例中，临床医生和实验室专业人员之间沟通不良可能会损害患者护理。为了更好地了解这种受损护理的影响因素，我们使用囊性纤维化突变分析作为我们的模型，研究了分析前和分析后的过程。我们发现，虽然大多数测试申请表要求正确解释测试结果所必需的患者/家庭信息，但在许多情况下，这些数据并不是由填写表格的个人提供的。我们发现，模拟诊断测试的结果报告将个体描述为携带者，其中只发现了单个突变，没有评论与囊性纤维化的诊断有关。同样，当没有发现突变，并且没有根据剩余疾病风险讨论患者的种族/民族和家族史时，基于模拟携带者检测情景的报告也存在问题。值得注意的是，一项针对妇产科医生的试点调查显示，包括秘书在内的办公室工作人员经常帮助安排基因测试，并向患者报告测试结果，这引发了人们对采取何种措施确保人员能力的质疑。这些发现是在战斗中应采取的努力，以提高模具质量的测试订购和结果报告的做法进行审查。
Previous studies have suggested that patient care may be compromised as a consequence of poor communication between clinicians and laboratory professionals in cases in which molecular genetic test results are reported. To understand better the contributing factors to such compromised care, we investigated both pre- and postanalytical processes using cystic fibrosis mutation analysis as our model. We found that although the majority of test requisition forms requested patient/family information that was necessary for the proper interpretation of test results, in many cases, these data were not provided by die individuals filling out the forms. We found instances in which result reports for simulated diagnostic testing described individuals as carriers where only a single mutation was found with no comment pertaining to a diagnosis of cystic fibrosis. Similarly, reports based on simulated scenarios for carrier testing were problematic when no mutations were identified, and the patient's race/ethnicity and family history were not discussed in reference to residual risk of disease. Remarkably, a pilot survey of obstetrician-gynecologists revealed that office staff, including secretaries, often helped order genetic tests and reported test results to patients, raising questions about what efforts are undertaken to ensure personnel competency. These findings are reviewed in fight of what efforts should be taken to improve die quality of test-ordering and result reporting practices.