Bioinformatics analysis in obstetrics and gynaecology

Introduction

Obstetrics and gynaecology have undergone significant advancements in the last decades from prenatal care to complex surgical interventions, and as researchers continue to push the boundaries of medical science, they should realise the transformative power of bioinformatics. Being a multi-disciplinary field created by statisticians, computer scientists, and biologists, bioinformatics is defined as the utilisation of computational tools to visualise, analyse, understand, organise, and store information associated with biological macromolecules. It includes the management, analysis, and interpretation of data composed of genomes, and biological structures aiming to provide knowledge of genes associated with some diseases in addition to revealing the complexity of their molecular actions (Govindarajan et al. 2012; Nino 2013, Diniz and Canduri 2017). This significant methodological advancement has positively influenced clinical medicine as regards novel prevention strategies, improved diagnosis and a better therapeutic approach in the hope of improving people’s quality of life (Oyelade et al. 2015).

Historical evolution

The roots of bioinformatics can be traced back to the mapping of 579 human genes through in situ hybridisation in 1981. The development of bioinformatics accelerated with the Human Genome Project (HGP), which was a global work between 1990 and 2003 to discover the complete set of human genes and facilitate their access to additional biological investigation. Following the completion of the HGP, obtaining, analysing and presenting genomic data became faster, more cost-effective and more accurate (Hogeweg 2011, Oyelade et al. 2015). The remarkable progress occurred mainly because of the advancements in computational capacity and genome projects (Diniz & Canduri 2017). Next-generation DNA sequencing is a new technology used for DNA and RNA sequencing and provides comprehensive knowledge regarding the genome structure (Satam et al. 2023). This technology, in conjunction with bioinformatics, has unlocked many opportunities such as how genes are expressed. This integration of computers is crucial to realise the genetic variations and physiopathologic mechanisms underlying the genetic structure (Ritchie et al. 2015).

The use of bioinformatics in obstetrics and gynaecology

Bioinformatics assist researchers in reproductive health by transforming genomic and biomedical data into predictive, preventive and proactive decision-making frameworks. Thus, by integrating conventional biology, bioinformatics can assist in understanding a complete set of comprehensive regulatory networks, tap into the deep phenotypes of reproductive and individual health risks, and create a structured system for translating the information into clinical management (Liu et al. 2023). Biomolecular or genetic markers have significantly improved disease diagnosis; however, they can lack accuracy in early diagnosis, prognosis and treatment prediction. Gene studies such as functional genomics present a plethora of molecular markers of conception and infertility, enabling disease prediction, prevention, and molecularly oriented diagnosis and treatment. This can support accurate and individualised clinical decision-making such as clarifying drug-target interactions and predicting treatment effectiveness (Zeng et al. 2014, Zhang & Yu 2020). The presentation of most reproductive diseases is associated with the malfunction of multiple biomarkers. Integrating bioinformatics and system biology with traditional science advances the interpretation of complex molecular interactions and disease mechanisms (Liu et al. 2023).

Obstetrics

The integration of bioinformatics into antenatal care is of noteworthy significance for maternal and foetal well-being to implement protective interventions and personalised approaches. Through the analysis of foetal and maternal genomes in addition to environmental causes, bioinformatics provides detailed risk evaluation for pregnancy complications; including preterm delivery, preeclampsia, and gestational diabetes mellitus (Aşır et al. 2023, Asir et al. 2024). Recently, Ji et al. performed bioinformatics analysis by using gene ontology annotations and the Kyoto Encyclopaedia of Genes and Genomes pathways to investigate differential serum proteome profiles in cases with early-onset preeclampsia. They demonstrated that markers such as human chorionic somatomammotropin hormone 1 and lysophosphatidic acid might act as potential biomarkers in the diagnosis and treatment of early-onset preeclampsia (Ji et al. 2023).

Gynaecology

Apart from the obvious ovulatory, tubal, and male sperm factors, infertility is a highly heterogeneous condition with multiple hormonal, immunological, genetic, and environmental aetiologies. Also, current treatments for chronic conditions linked to infertility such as polycystic ovary syndrome (PCOS), endometriosis, and premature ovarian insufficiency, do not target their underlying causes effectively and only provide symptomatic treatment (Liu et al. 2023). Through enlightening the complex molecular dynamics underlying fertility, embryonic development and reproductive diseases, bioinformatics can open a new way for original diagnostic approaches, innovative interventions and therapeutic modalities (Das et al. 2017, Dapas & Dunaif 2022). Zhang et al. demonstrated the mechanisms of promoting the synthesis and secretion of androgens in follicles by bioinformatics analysis in PCOS. Their work has contributed to the understanding of the pathogenesis of hyperandrogenemia and lays the foundation for the development of therapeutic targets for hyperandrogenism associated with PCOS (Zhang et al. 2023).

Gynaecological oncology

During the past decade, investigators have performed significant efforts to gain deep molecular gynaecologic cancer profiling that can assist more accurate and personalised clinical decisions. The diverse types of molecular profiles might offer a detailed view and facilitate the discovery of biomarkers for gynaecological cancer screening, diagnosis and prognosis (Xiao et al. 2022). Wang et al. demonstrated that the downregulated BAG3 mRNA expression is closely connected with the carcinogenesis of breast and endometrium and the histogenesis of cervical and endometrial cancers (Wang et al. 2023). Ni et al. showed that silencing LINC00324 suppressed the cervical cancer progression by targeting and negatively regulating miR-195-5p, suggesting the prognostic role of this biomarker in cervical cancer treatment (Ni et al. 2023).

Conclusion

The intersection of obstetrics, gynaecology and bioinformatics announces a novel era of individualised data-based care for women. Utilising the collective potential of these disciplines will redefine the limits of obstetrics and gynaecology and open new horizons for healthcare.

Data availability statement

Data sharing is not applicable to this article as no new data were created or analysed in this study.

Disclosure statement

The author has no conflicts of interest to declare.

Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.