Lal J A, Malogajski J, Verweij S P, de Boer P, Ambrosino E, Brand A, Ouburg S, Morré S A
Institute for Public Health Genomics, Department of Genetics and Cell Biology, Faculty of Health, Medicine and Life Sciences, University of Maastricht, Maastricht, The Netherlands.
Public Health Genomics. 2013;16(1-2):50-61. doi: 10.1159/000346207. Epub 2013 Mar 18.
Chlamydia trachomatis (CT) infections in women can result in tubal pathology (TP). Worldwide 10-15% of all couples are subfertile, meaning they did not get pregnant after 1 year. Part of the routine subfertility diagnostics is the Chlamydia Antibody Test (CAT) to decide for laparoscopy or not in order to diagnose TP. The CAT positive and negative predictive value is such that many unneeded laparoscopies are done and many TP cases are missed. Addition of host genetic markers related to infection susceptibility and severity could potentially improve the clinical management of couples who suffer from subfertility. In the present study, the potential translational and clinical value of adding diagnostic host genetic marker profiles on the basis of infection and inflammation to the current clinical management of subfertility was investigated. This review provides an overview of the current state of the art of host genetic markers in relation to CT infection, proposes a new clinical diagnostic approach, and investigates how the Learning-Adapting-Leveling model (LAL, a public health genomic (PHG) model) can be of value and provide insight to see whether these host genetic markers can be translated into public health. This review shows that the preliminary basis of adding host genetic marker profiles to the current diagnostic procedures of subfertility is present but has to be further developed before implementation into health care can be achieved. CT infection is an example in the field of PHG with potential diagnostic to be taken up in the future in the field of subfertility diagnosis with a time line for integration to be dependent on enhanced participation of many stakeholders in the field of PHG which could be advanced through the LAL model.
女性沙眼衣原体(CT)感染可导致输卵管病变(TP)。全球范围内,所有夫妇中有10% - 15%存在生育问题,即一年后仍未怀孕。常规生育问题诊断的一部分是衣原体抗体检测(CAT),以决定是否进行腹腔镜检查来诊断TP。CAT的阳性和阴性预测价值使得许多不必要的腹腔镜检查被进行,同时许多TP病例被漏诊。添加与感染易感性和严重程度相关的宿主遗传标志物可能会改善对患有生育问题夫妇的临床管理。在本研究中,探讨了在当前生育问题临床管理基础上,添加基于感染和炎症的诊断性宿主遗传标志物谱的潜在转化和临床价值。本综述概述了与CT感染相关的宿主遗传标志物的当前技术水平,提出了一种新的临床诊断方法,并研究了学习 - 适应 - 平衡模型(LAL,一种公共卫生基因组学(PHG)模型)如何具有价值并提供见解,以了解这些宿主遗传标志物是否可以转化为公共卫生应用。本综述表明,在当前生育问题诊断程序中添加宿主遗传标志物谱的初步基础已经存在,但在实现医疗保健应用之前还需要进一步发展。CT感染是PHG领域的一个例子,未来在生育问题诊断领域具有潜在的诊断应用价值,整合的时间表取决于PHG领域众多利益相关者的更多参与,这可以通过LAL模型来推进。