Castellani C, Cuppens H, Macek M, Cassiman J J, Kerem E, Durie P, Tullis E, Assael B M, Bombieri C, Brown A, Casals T, Claustres M, Cutting G R, Dequeker E, Dodge J, Doull I, Farrell P, Ferec C, Girodon E, Johannesson M, Kerem B, Knowles M, Munck A, Pignatti P F, Radojkovic D, Rizzotti P, Schwarz M, Stuhrmann M, Tzetis M, Zielenski J, Elborn J S
Cystic Fibrosis Centre, Ospedale Civile Maggiore, Verona, Italy.
J Cyst Fibros. 2008 May;7(3):179-96. doi: 10.1016/j.jcf.2008.03.009.
It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular genetic results, and to integrate them in the diagnostic process. The limitations of genotyping technology, the choice of mutations to be tested, and the clinical context in which the test is administered can all influence how genetic information is interpreted. This paper describes the conclusions of a consensus conference to address the use and interpretation of CF mutation analysis in clinical settings. Although the diagnosis of CF is usually straightforward, care needs to be exercised in the use and interpretation of genetic tests: genotype information is not the final arbiter of a clinical diagnosis of CF or CF transmembrane conductance regulator (CFTR) protein related disorders. The diagnosis of these conditions is primarily based on the clinical presentation, and is supported by evaluation of CFTR function (sweat testing, nasal potential difference) and genetic analysis. None of these features are sufficient on their own to make a diagnosis of CF or CFTR-related disorders. Broad genotype/phenotype associations are useful in epidemiological studies, but CFTR genotype does not accurately predict individual outcome. The use of CFTR genotype for prediction of prognosis in people with CF at the time of their diagnosis is not recommended. The importance of communication between clinicians and medical genetic laboratories is emphasized. The results of testing and their implications should be reported in a manner understandable to the clinicians caring for CF patients.
对于关注囊性纤维化（CF）的临床医生而言，解读分子遗传学结果并将其整合到诊断过程中往往具有挑战性。基因分型技术的局限性、所检测突变的选择以及进行检测的临床背景，都会影响对遗传信息的解读。本文描述了一次共识会议的结论，该会议旨在探讨CF突变分析在临床环境中的应用及解读。尽管CF的诊断通常较为直接，但在基因检测的使用和解读中仍需谨慎：基因型信息并非CF或CF跨膜传导调节因子（CFTR）蛋白相关疾病临床诊断的最终裁决依据。这些疾病的诊断主要基于临床表现，并通过CFTR功能评估（汗液检测、鼻电位差）和基因分析来支持。这些特征单独一项都不足以确诊CF或CFTR相关疾病。广泛的基因型/表型关联在流行病学研究中有用，但CFTR基因型并不能准确预测个体预后。不建议在CF患者诊断时使用CFTR基因型来预测预后。强调了临床医生与医学遗传实验室之间沟通的重要性。检测结果及其意义应以CF患者护理临床医生能够理解的方式报告。
