From past to progress: a retrospective study on CFTR genetic testing in South Africa.

IF 1.8 Q4 GENETICS & HEREDITY
Sarah Walters, Colleen Aldous, Helen Malherbe
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引用次数: 0

Abstract

Confirming a genetic diagnosis of cystic fibrosis (CF) for clinically affected individuals should be more accessible today, with more laboratories offering testing and improved technologies at lower costs. Instead, diagnostic testing for CF has become more complex due to the variety of genetic testing options available for the one known causative gene (CFTR). This article provides an overview of genetic tests currently available for CF in six laboratories in South Africa. Also, it demonstrates the evolution of CF tests used at one private laboratory in the country via a ten-year retrospective study. The findings of this study may serve as a guide for healthcare providers in selecting appropriate testing for CF diagnostic or carrier genetic confirmation. The choice of genetic test and methodology depends on individualised factors such as the ethnic origin of the patient, test availability, advantages and limitations, and cost. The ethnic diversity of South Africa's populations and probable under-reporting of CF in the country make the diagnosis of this relatively common genetic condition complex. The actual burden of CF in South Africa is unknown, and comprehensive genetic testing, with an ongoing compilation of patient data in the South African CF registry, should assist in addressing the genetic diversity of CF-causing variants.

从过去到进展:南非CFTR基因检测的回顾性研究。
随着越来越多的实验室以更低的成本提供检测和改进的技术,对临床受影响的个体进行囊性纤维化(CF)的遗传诊断应该更容易获得。相反,由于对一种已知致病基因(CFTR)可用的多种基因检测选择,CF的诊断测试变得更加复杂。本文概述了目前在南非六个实验室中可用于CF的基因检测。此外,它还通过一项十年回顾性研究,展示了该国一家私人实验室使用的CF测试的演变。本研究结果可作为医疗保健提供者选择合适的CF诊断或携带者遗传确认检测的指南。基因检测和方法的选择取决于个体化因素,如患者的种族、检测的可用性、优势和局限性以及成本。南非人口的种族多样性以及该国CF的可能低报使得这种相对常见的遗传病的诊断变得复杂。南非CF的实际负担尚不清楚,全面的基因检测,以及正在进行的南非CF登记处患者数据的汇编,应该有助于解决CF引起变异的遗传多样性。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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