The Potential Role for Host Genetic Profiling in Screening for Chlamydia-Associated Tubal Factor Infertility (TFI)-New Perspectives.

Host immunogenetic factors can affect late complications of urogenital infections with Chlamydia trachomatis. These findings are creating new avenues for updating existing risk prediction models for C. trachomatis-associated tubal factor infertility (TFI). Research into host factors and its utilization may therefore have future implications for diagnosing C. trachomatis-induced infertility. We outline the epidemiological situation regarding C. trachomatis and TFI in high-income countries. Thereupon, we review the main characteristics of the population undergoing fertility work-up and identify screening and diagnostic strategies for TFI currently in place. The Netherlands is an exemplary model for the state of the art in high-income countries. Within the framework of existing clinical approaches, we propose a scenario for the translation of relevant genome-based information into triage of infertile women, with the objective of implementing genetic profiling in the routine investigation of TFI. Furthermore, we describe the state of the art in relevant gene- and single nucleotide polymorphism (SNP) based clinical prediction models and place our perspectives in the context of these applications. We conclude that the introduction of a genetic test of proven validity into the assessment of TFI should help reduce patient burden from invasive and costly examinations by achieving a more precise risk stratification.

An Integrated Care Model With Implementation Roadmap to Improve Chlamydia trachomatis Management and Control in India.

Chlamydia trachomatis is the world's most prevalent bacterial Sexually Transmitted infection (STI). It is associated with a wide range of health consequences and sequelae in both the short and long term. Enhanced control of urogenital C. trachomatis infection is particularly important in low- and middle-income countries such as India, where most of the burden goes unnoticed and where limited systematic data is available to gauge the current situation. The World Health Organization (WHO) recently issued its latest strategy on STIs, which is aligned with the achievement of the Sustainable Development Goals (SDGs). Taking the WHO framework into account; this paper puts forward an integrated care model to strengthen the management and control of C. trachomatis in India. The model is compiled of five key components of STI management (awareness, prevention diagnosis, treatment and follow-up). The model considers barriers to effective C. trachomatis control into account. The barriers are discussed and compiled into different categories. A roadmap for the implementation of other similar models to enhance C. trachomatis control in the future is provided.

The attitudes of Dutch fertility specialists towards the addition of genetic testing in screening of tubal factor infertility.

BACKGROUND: This study aims to identify elements perceived by Dutch fertility specialists as barriers and facilitators for the introduction of genetic testing, and their attitudes towards the use of genetic information. The genetic test would be implemented in routine screening for tubal pathology and identifies SNPs relevant for the immune response causing tubal pathology. METHODS: Experienced reproductive specialists working in Dutch Academic Hospitals were interviewed. Based on the results of four interviews a questionnaire was developed and used to survey medical doctors in six out of eight Dutch Academic hospitals. RESULTS: 60.4% (n=91) stated that the addition of genetic markers to the Chlamydia trachomatis antibody test (CAT) in screening for tubal pathology would increase screening accuracy. 68.2% (n=90) agreed they would require additional training on clinical genetics. Clinical utility (91.2%, n=91) and cost-effectiveness (95.6%, n=91) were recognized by the respondents as important factors in gaining support for the new screening strategy. CONCLUSION: In summary, respondents showed a positive attitude towards the implementation of a genetic test combined with CAT for tubal factor infertility (TFI) screening. To gain their support the majority of respondents agreed that clinical utility, specifically cost-effectiveness, is an important factor. Comprehensive research about economic implications and utility regarding the introduction of genomic markers should be the next step in the implementation strategy. Furthermore, education and training would need to be developed and offered to fertility care professionals about genetic markers, their interpretation, and implications for clinical decision-making.

Biobanking and translation of human genetics and genomics for infectious diseases.

Biobanks are invaluable resources in genomic research of both the infectious diseases and their hosts. This article examines the role of biobanks in basic research of infectious disease genomics, as well as the relevance and applicability of biobanks in the translation of impending knowledge and the clinical uptake of knowledge of infectious diseases. Our research identifies potential fields of interaction between infectious disease genomics and biobanks, in line with global trends in the integration of genome-based knowledge into clinical practice. It also examines various networks and biobanks that specialize in infectious diseases (including HIV, HPV and Chlamydia trachomatis), and provides examples of successful research and clinical uptake stemming from these biobanks. Finally, it outlines key issues with respect to data privacy in infectious disease genomics, as well as the utility of adequately designed and maintained electronic health records. We maintain that the public should be able to easily access a clear and detailed outline of regulations and procedures for sample and data utilization by academic or commercial investigators, and also should be able to understand the precise roles of relevant governing bodies. This would ultimately facilitate uptake by researchers and clinics. As a result of the efforts and resources invested by several networks and consortia, there is an increasing awareness of the prospective uses of biobanks in advancing infectious disease genomic research, diagnostics and their clinical management.

Translational potential into health care of basic genomic and genetic findings for human immunodeficiency virus, Chlamydia trachomatis, and human papilloma virus.

Individual variations in susceptibility to an infection as well as in the clinical course of the infection can be explained by pathogen related factors, environmental factors, and host genetic differences. In this paper we review the state-of-the-art basic host genomic and genetic findings' translational potential of human immunodeficiency virus (HIV), Chlamydia trachomatis (CT), and Human Papilloma Virus (HPV) into applications in public health, especially in diagnosis, treatment, and prevention of complications of these infectious diseases. There is a significant amount of knowledge about genetic variants having a positive or negative influence on the course and outcome of HIV infection. In the field of Chlamydia trachomatis, genomic advances hold the promise of a more accurate subfertility prediction test based on single nucleotide polymorphisms (SNPs). In HPV research, recent developments in early diagnosis of infection-induced cervical cancer are based on methylation tests. Indeed, triage based on methylation markers might be a step forward in a more effective stratification of women at risk for cervical cancer. Our review found an imbalance between the number of host genetic variants with a role in modulating the immune response and the number of practical genomic applications developed thanks to this knowledge.