Future of Women's Health

Future of Women's Health

This month's update on laboratory biomarker research in major diseases focuses on women's health, particularly in areas such as biomarkers, cardiovascular disease, infectious diseases, precision and personalised medicine, and the crucial role of laboratory expertise, including bioinformatics.

Biomarkers have revolutionised the early detection and monitoring of diseases. In women's health, they are crucial for diagnosing conditions often underrepresented or manifesting differently in women, such as cardiovascular diseases. The advent of precision and personalised medicine holds immense promise. Tailoring treatments to an individual’s genetic makeup can enhance efficacy and reduce side effects, addressing the historical one-size-fits-all approach that has often disadvantaged women.

Laboratory expertise, particularly in bioinformatics, is the backbone of these advancements. Analysing complex genetic data to discern patterns and predictions is at the heart of personalising treatment and understanding disease mechanisms. Ensuring equitable access to these advancements, addressing the underrepresentation of women in clinical trials, and continuously updating our knowledge base as new data emerges are critical for the future of women's health. It is imperative to keep these challenges at the forefront of our efforts, ensuring that the promise of today's science is the reality of tomorrow's healthcare for all women.


Recent key publications

1) A Two-Step Feature Selection Radiomic Approach to Predict Molecular Outcomes in Breast Cancer. Sensors (Basel) 2023; 23. Brancato V, Brancati N, Esposito G et al. Link to full article

This study introduces an innovative radiomic approach for breast cancer (BC) diagnostics, employing a two-step feature selection process to enhance the prediction accuracy of crucial BC biomarkers. Demonstrating significant results in both in-house and external datasets, this work marks a clinically relevant advancement in non-invasive BC assessment, making it a must-read for experts in the field.


2) A wearable aptamer nanobiosensor for non-invasive female hormone monitoring. Nat Nanotechnol 2023; Ye C, Wang M, Min J et al. Link to full article

In this article, a novel skin-interfaced wearable aptamer nanobiosensor provides a significant advancement in the field of fertility and women's health, enabling personalised monitoring of female hormones such as oestradiol. This state-of-the-art device facilitates automatic, non-invasive monitoring of oestradiol levels via sweat analysis, thereby obviating the need for invasive blood draws and the use of large-scale analytical laboratory equipment. This proof-of-concept research demonstrates the biosensor's remarkable sensitivity and its ability to provide real-time hormone level analysis.


3) Circulating neutrophil gelatinase-associated lipocalin and preeclampsia: a meta-analysis. J Matern Fetal Neonatal Med 2023; 36:2197100. Wei Y, Li L, Wang F et al. Link to full article

This comprehensive systematic review and meta-analysis investigates the relationship between circulating neutrophil gelatinase-associated lipocalin (NGAL) and the risk of preeclampsia (PE). Based on a thorough search of major databases and a random-effects model to pool results from 18 case-control studies, encompassing 1293 women with PE and 1773 healthy pregnant controls, with a focus on gestational age-matched samples. The findings reveal a significant association between elevated circulating NGAL levels and PE across various trimesters and severities of the condition and provide critical insights into the potential of NGAL as a biomarker for PE.


4) Immunological and clinicopathological features predict HER2-positive breast cancer prognosis in the neoadjuvant NeoALTTO and CALGB 40601 randomized trials. Nat Commun 2023; 14:7053. Rediti M, Fernandez-Martinez A, Venet D et al. Link to full article

This comprehensive study elucidates the pivotal role of the B cell receptor (BCR) repertoire's complexity in predicting event-free survival (EFS) in HER2-positive breast cancer patients undergoing neoadjuvant therapy. Leveraging data from the NeoALTTO and CALGB 40601 phase III trials, it unveils how BCR characteristics, particularly in relation to hormone receptor status and PAM50 subtypes, serve as independent prognostic markers. The development of the HER2-EveNT prognostic score, integrating key factors like hormone receptor and clinical nodal status, stromal tumour-infiltrating lymphocyte levels, and BCR repertoire evenness, represents a significant advancement in identifying patient subgroups with markedly different outcomes, offering a potential paradigm shift in personalised cancer treatment strategies.


5) Advances in human reproductive biomarkers. Clin Chim Acta 2024; 552:117668. Mobed A, Abdi B, Masoumi S et al. Link to full article

The intricate realm of reproductive biomarkers, crucial in regulating women's health particularly during pregnancy and childbirth, is rapidly evolving with the advent of innovative diagnostic techniques. This comprehensive review critically examines the spectrum of existing and emerging methodologies for the detection and quantification of key reproductive biomarkers, such as VEGF and hCG, highlighting the transformative impact of nanotechnology-based approaches. Anchored in cutting-edge research, this review offers an insightful exploration into the advanced biosensor and nanosensor technologies, marking a significant leap in the precise and efficient identification of reproductive biomarkers.


6) Artificial intelligence for prenatal chromosome analysis. Clin Chim Acta 2024; 552:117669. Boddupally K, Rani Thuraka E. Link to full article

This comprehensive review presents a critical examination of the latest advancements in prenatal diagnostics, particularly focusing on the detection and management of chromosomal abnormalities such as trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome). It explores the integration and effectiveness of cutting-edge computational approaches, including machine learning (ML), deep learning (DL) and advanced data analytics, in augmenting the precision and efficiency of prenatal screening methods. The significance of this study lies in its detailed analysis of contemporary developments in Non-Invasive Prenatal Testing (NIPT), genomic insights, and medical imaging techniques, highlighting the transformative impact of ML and DL in revolutionising prenatal diagnosis and care.


7) Non-invasive prenatal testing: a revolutionary journey in prenatal testing. Front Med (Lausanne) 2023; 10:1265090. Abedalthagafi M, Bawazeer S, Fawaz RI et al. Link to full article

Non-invasive prenatal testing (NIPT) is a pioneering technique that has consistently advanced the field of prenatal testing to detect genetic abnormalities and conditions with the aim of decreasing the incidence and prevalence of inherited conditions. NIPT remains a method of choice for common autosomal aneuploidies, mostly trisomy 21, and several monogenic disorders. The advancements in gene sequencing techniques have expanded the panel of conditions where NIPT could be offered. However, basic research on the impact of several genetic conditions lags behind the methods of detection of these sequence aberrations, and the impact of the expansion of NIPT should be carefully considered based on its utility. There remains a need for careful validation of the predictive values of different tests offered. NIPT comes with many challenges, including ethical and economic issues. The scientific evidence, technical feasibility, and clinical benefit of NIPT need to be carefully investigated before new tests and developments are translated into clinical practice. Moreover, the implementation of panel expansion of NIPT should accompany expert genetic counselling pre- and post-testing.



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