Ending a Diagnostic Odyssey Family Education, Counseling, and Response to Eventual Diagnosis
Ending a Diagnostic Odyssey Family Education, Counseling, and Response to Eventual Diagnosis
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DOI：
10.1016/j.pcl.2016.08.017
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发表时间：
2017-02-01
影响因子：
2.6
通讯作者：
McCarrier, Julie
中科院分区：
文献类型：
--
作者：
Basel, Donald;McCarrier, Julie
基因组测序是患有未确诊或罕见疾病的家庭的首选诊断测试，目的是为他们孩子复杂的医疗问题寻求解释。寻找答案的愿望很容易对测序结果产生偏差，因此咨询过程旨在促进知情的决策制定，并对可能的结果设定现实的预期。患者案例突出了基因组测序在临床应用中遇到的各种挑战和复杂性，并反映了在过去5年的临床经验中积累的一些数据。
Genomic sequencing is the diagnostic test of choice for families with undiagnosed or rare diseases seeking an explanation for their child's complex medical concerns. The desire to find answers can easily bias interpretation of sequencing results, and thus the counseling process is designed to facilitate informed decision making and set realistic expectations for possible outcomes. The patient case examples serve to highlight the various challenges and complexities encountered with the clinical application of genomic sequencing and to reflect some of the data that has been accrued during the past 5 years of clinical experience.