Langfelder-Schwind Elinor, Karczeski Barbara, Strecker Michelle N, Redman Joy, Sugarman Elaine A, Zaleski Christina, Brown Trisha, Keiles Steven, Powers Amy, Ghate Sumheda, Darrah Rebecca
Beth Israel Medical Center, New York, NY, USA,
J Genet Couns. 2014 Feb;23(1):5-15. doi: 10.1007/s10897-013-9636-9. Epub 2013 Sep 7.
To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated information about the natural history, diagnosis, and treatment of CF and related conditions. 2) Supplement genetic counselors' knowledge and understanding of the available carrier screening and diagnostic testing options. 3) Describe the current state of genotype/phenotype correlations for CFTR mutations and an approach to interpreting both novel and previously described variants. 4) Provide a framework for genetic counselors to assist clients' decision-making regarding CF carrier testing, prenatal diagnosis, and pregnancy management. Disclaimer The practice guidelines of the National Society of Genetic Counselors (NSGC) are developed by members of the NSGC to assist genetic counselors and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the NSGC practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge.In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population.Practice guidelines are published by NSGC for educational and informational purposes only, and NSGC does not "approve" or "endorse" any specific methods, practices, or sources of information.
为给那些客户正在考虑进行囊性纤维化（CF）携带者检测或寻求CF分子检测结果相关信息的遗传咨询师提供实践建议。这些建议的目标是：1）提供有关CF及相关病症的自然史、诊断和治疗的最新信息。2）补充遗传咨询师对可用携带者筛查和诊断检测选项的知识和理解。3）描述CFTR突变的基因型/表型相关性的当前状态以及解释新的和先前描述的变异的方法。4）为遗传咨询师提供一个框架，以协助客户就CF携带者检测、产前诊断和妊娠管理做出决策。免责声明美国国家遗传咨询师协会（NSGC）的实践指南由NSGC成员制定，以协助遗传咨询师和其他医疗保健提供者就遗传问题的适当管理做出决策；包括获得和/或提供服务。每项实践指南都侧重于一个临床或基于实践的问题，并且是对当时认为可靠的当前专业文献进行审查和分析的结果。因此，NSGC实践指南中的信息和建议反映了发布时的当前科学和临床知识，仅在其发布日期有效，并且会随着新进展的出现而随时变更，恕不另行通知。此外，考虑到个体患者的需求以及机构或实践类型所特有的资源和限制的实践差异，可能需要采用与本指南中概述的建议不同的方法、治疗和/或程序。因此，这些建议不应被解释为规定唯一的管理方案，使用这些建议也不能保证特定的结果。遗传咨询实践指南绝不是要取代医疗保健提供者基于特定患者或患者群体的临床情况做出的最佳医疗判断。实践指南由NSGC发布仅用于教育和信息目的，NSGC不“批准”或“认可”任何特定的方法、实践或信息来源。
