Data-driven insights can transform women's reproductive health

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This perspective examines how advancements in data collection and computational methods can improve understanding and treatment of women's reproductive health conditions, despite existing data challenges.

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This paper is a perspective on how data-driven approaches using molecular datasets (e.g., genomics, bulk/single-cell transcriptomics, proteomics) and clinical sources such as electronic medical records can advance understanding and intervention for women’s reproductive health conditions. Drawing on examples, it highlights transcriptomics and integrative analyses that helped elucidate aspects of endometriosis biology and identified candidate drugs through expression-reversal strategies, and it describes large-scale transcriptomic, genetic, environmental-exposure, and microbiome studies for preterm birth, including machine-learning efforts that achieved up to AUROC 0.87 for predicting early preterm birth from vaginal microbiome data. It cautions that important limitations remain, including challenges in data completeness, accuracy, and representation, despite new technologies and improved trial inclusion. This paper is centrally about endometriosis and adenomyosis—discussing them as examples of reproductive health conditions that have historically been under-studied and noting transcriptomic and immune-focused approaches to understanding endometriosis.

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Abstract

This perspective explores the transformative potential of data-driven insights to understand and address women's reproductive health conditions. Historically, clinical studies often excluded women, hindering comprehensive research into conditions such as adverse pregnancy outcomes and endometriosis. Recent advances in technology (e.g., next-generation sequencing techniques, electronic medical records (EMRs), computational power) provide unprecedented opportunities for research in women's reproductive health. Studies of molecular data, including large-scale meta-analyses, provide valuable insights into conditions like preterm birth and preeclampsia. Moreover, EMRs and other clinical data sources enable researchers to study populations of individuals, uncovering trends and associations in women's reproductive health conditions. Despite these advancements, challenges such as data completeness, accuracy, and representation persist. We emphasize the importance of holistic approaches, greater inclusion, and refining and expanding on how we leverage data and computational integrative approaches for discoveries so that we can benefit not only women's reproductive health but overall human health.
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Conclusions

50. Furthermore, confounding variables present a perva- sive challenge throughout science, po tentially masking the true effects of the variable of interest by being associated with both the exposure and the outcome 51. In response to these challenges, we advocate for the continued improvement of resear ch methods through the develop- ment and incorporation of standardized protocols 52 and validation efforts 53. Moreover, the adoption of transparent reporting practices, such as those laid out by CONSORT and STROBE initiatives 54 or the Cell Press STAR Methods model 55, will enhance reproducibility and underpin the integrity and credibility of data-driven findings in women ’s reproductive health. While advancements on the data collection and technical analysis

Methods

fronts are essential to exploring concerns in women’sh e a l t h ,i ti s crucial to consider the impact of social determinants of health on patients’ presentations and clinical outcom es. For example, patients from low socioeconomic status who rely on Medicare or Medicaid or are under- or uninsured may not have reliable a ccess to a physician to help manage gynecological conditions, causing adverse health outcomes56.I na d d i t i o n , medical racism is a culprit in the increased preterm birth rates in non-white women in the US57, and inequalities that can manifest in different forms— such as maternal stress and environmental exposure to toxins due to his- torical redlining—can contribute to preterm birth risk, as surveyed by epigenetic and gene-environment interaction studies58. Thus, it is crucial to adopt an intersectional approach to studying women’s health conditions, taking into account how cultural, soc ioeconomic, geographic, and racial disparity factors influence patients’ outcomes and healthcare experiences, which can inform a more holistic understanding of disease and contribute to improved approaches to care. A good first step would be to recruit larger, more diverse cohorts for studies to represent more realistic patient popu- lations. Studies of women’s reproductive health should not focus solely on a person’s ability to have children or not but consider the individual holi- stically, including mental health and quality of life. Challenges going forward will not necessarily be generating sufficient amounts of data for computational a nalyses but accurate phenotyping strategies, refining the analytical methods to gain greater biological insights, expanding on computational drug discovery opportunities for the advancement of therapeutics,finding ways that large language models and other new technological developments can enable discoveries, and bringing closer to reality the promise of precision medicine. Integrating and ana- lyzing different types of -omics data to study women’sh e a l t hc o n d i t i o n sc a n provide revelations in causes of disease and targets for treatment 59.M u l t i - omics approaches have resulted in greater insights into biological signals associated with term and preterm birth 60,61 and could be increasingly leveraged to better understand pregnancy and other women’sh e a l t hc o n - ditions. Moreover, digital twins c an provide a data-driven way of mon- itoring, modeling, and managing conditions that can be tailored to an individual’s specific needs by integrating real-time data from various sources (e.g., clinical records, sensors, mobilehealth tracking applications, wearable devices) and artificial intelligence 62. Digital twin technology could offer a transformative approach to women’s reproductive health, from identifying potential pregnancy complication s early to managing endometriosis symptoms,finding optimal drugs and doses for treatments, and more. It is imperative, however, that we ensure discoveries from future research and technologies developed for women’s reproductive health do not widen the gap between those who are well-represented and privileged and those from under-represented and under-resourced backgrounds. Expanding on how we leverage molecular, clinical, sociocultural, and other data combined with robust computational integrative a pproaches for discoveries while we prioritize broader representation in studies will benefitn o tj u s tw o m e n’s reproductive health but all areas of human health for everyone. Received: 1 February 2024; Accepted: 20 April 2024;

References

1. Institute of Medicine, Board on Population Health and Public Health Practice, & Committee on Women ’s Health Research. Women’s Health Research: Progress, Pitfalls, and Promise(National Academies Press (US), Washington (DC), 2010). 2. Institute of Medicine (US) Committee on Understanding the Biology of Sex and Gender Differences.Exploring the Biological Contributions to Human Health: Does Sex Matter? (National Academies Press (US), Washington (DC), 2001). 3. Of fice of Research on Women ’s Health. History of Women’s Participation in Clinical Research. https://orwh.od.nih.gov/toolkit/ recruitment/history (2019). 4. Institute of Medicine (US) Committee on Women ’s Health Research. Introduction. In Women’s Health Research: Progress, Pitfalls, and Promise. (ed. Grossblatt, N.) (National Academies Press (US), Washington, DC, 2010). https://doi.org/10.1038/s44294-024-00019-x Perspective npj Women's Health | (2024) 2:14 4 5. Smith, K. Women’s Health Research Lacks Funding —these Charts Show How. https://www.nature.com/immersive/d41586-023-01475- 2/index.html (2023). 6. Mirin, A. A. Gender disparity in the funding of diseases by the U.S. National Institutes of Health. J. Womens Health 2002 30, 956–963 (2021). 7. Fisk, N. & Atun, R. Systematic analysis of research underfunding in maternal and perinatal health. BJOG Int. J. Obstet. Gynaecol 116, 347–356 (2009). 8. Rice, L. W. et al. Increasing NIH funding for academic departments of obstetrics and gynecology: a call to action. Am. J. Obstet. Gynecol. 223, 79.e1–79.e8 (2020). 9. Giudice, L. C. Clinical practice. Endometriosis. N. Engl. J. Med. 362, 2389–2398 (2010). 10. Bunis, D. G. et al. Whole-tissue deconvolution and scRNAseq analysis identify altered endometrial cellular compositions and functionality associated with endometriosis. Front. Immunol. 12, 788315 (2022). 11. Oskotsky, T. T. et al. Identifying therapeutic candidates for endometriosis through a transcriptomics-based drug repositioning approach. iScience 109388 https://doi.org/10.1016/j.isci.2024. 109388 (2024). 12. Blencowe, H. et al. National, regional, and worldwide estimates of preterm birth rates in the year 2010 with time trends since 1990 for selected countries: a systematic analysis and implications. Lancet Lond. Engl. 379, 2162–2172 (2012). 13. Vora, B. et al. Meta-analysis of maternal and fetal transcriptomic data elucidates the role of adaptive and innate immunity in preterm birth. Front. Immunol. 9, 993 (2018). 14. Le, B. L., Iwatani, S., Wong, R. J., Stevenson, D. K. & Sirota, M. Computational discovery of therapeutic candidates for preventing preterm birth. JCI Insight 5, e133761, 133761 (2020). 15. Zhang, G. et al. Genetic associations with gestational duration and spontaneous preterm birth. N. Engl. J. Med. 377, 1156–1167 (2017). 16. Panagopoulos Abrahamsson, D. et al. A comprehensive non-targeted analysis study of the prenatal exposome. Environ. Sci. Technol. 55, 10542–10557 (2021). 17. Knijnenburg, T. A. et al. Genomic and molecular characterization of preterm birth. Proc. Natl Acad. Sci. USA 116, 5819–5827 (2019). 18. Kosti, I., Lyalina, S., Pollard, K. S., Butte, A. J. & Sirota, M. Meta- analysis of vaginal microbiome data provides new insights into preterm birth. Front. Microbiol. 11, 476 (2020). 19. Huang, C. et al. Meta-analysis reveals the vaginal microbiome is a better predictor of earlier than later preterm birth. BMC Biol. 21, 199 (2023). 20. Minot, S. S. et al. MaLiAmPi enables generalizable and taxonomy- independent microbiome features from technically diverse 16S- based microbiome studies. Cell Rep. Methods 3, 100639 (2023). 21. Golob, J. L. et al. Microbiome preterm birth DREAM challenge: crowdsourcing machine learning approaches to advance preterm birth research. Cell Rep. Med. 101350 https://doi.org/10.1016/j.xcrm. 2023.101350 (2023). 22. DiGiulio, D. B. et al. Temporal and spatial variation of the human microbiota during pregnancy. Proc. Natl Acad. Sci. USA 112, 11060–11065 (2015). 23. Corwin, E. J. et al. Protocol for the Emory University African American vaginal, oral, and gut microbiome in pregnancy Cohort study. BMC Pregnancy Childbirth 17, 161 (2017). 24. Ye, C. et al. The periodontopathic bacteria in placenta, saliva and subgingival plaque of threatened preterm labor and preterm low birth weight cases: a longitudinal study in Japanese pregnant women.Clin. Oral Investig. 24, 4261–4270 (2020). 25. Liao, J. et al. Microdiversity of the vaginal microbiome is associated with preterm birth. Nat. Commun. 14, 4997 (2023). 26. Rana, S., Lemoine, E., Granger, J. P. & Karumanchi, S. A. Preeclampsia: pathophysiology, challenges, and perspectives. Circ. Res. 124, 1094–1112 (2019). 27. Leavey, K. et al. Unsupervised placental gene expression pro filing identifies clinically relevant subclasses of human preeclampsia. Hypertension Dallas, TX 1979 68, 137–147 (2016). 28. Broekhuizen, M. et al. The placental innate immune system is altered in early-onset preeclampsia, but not in late-onset preeclampsia. Front. Immunol. 12, 780043 (2021). 29. Callahan, T. J. et al. Knowledge-driven mechanistic enrichment of the preeclampsia ignorome. In Biocomputing 2023 (eds Altman, R. B. et al.) 371–382 (World Scientific, 2022). 30. Admati, I. et al. Two distinct molecular faces of preeclampsia revealed by single-cell transcriptomics. Medicine 4, 687–709.e7 (2023). 31. The White House Of fice of the Press Secretary to President George W. Bush. A New Generation of American Innovation. https:// georgewbush-whitehouse.archives.gov/infocus/technology/ economic_policy200404/chap3.html (2004). 32. Adler-Milstein, J. & Jha, A. K. Sharing clinical data electronically: a critical challenge for fixing the health care system. JAMA 307, 1695–1696 (2012). 33. All of Us Research Program NIH. All of Us Seeks Input on Broadening Participants’ Electronic Health Record Data. https://allofus.nih.gov/ news-events/announcements/all-us-seeks-input-broadening- participants-electronic-health-record-data (2022). 34. Christ, J. P. et al. Incidence, prevalence, and trends in endometriosis diagnosis: a United States population-based study from 2006 to 2015. Am. J. Obstet. Gynecol. 225, 500.e1–500.e9 (2021). 35. Shafrir, A. L. et al. Validity of self-reported endometriosis: a comparison across four cohorts. Hum. Reprod. 36,1 2 6 8–1278 (2021). 36. Burton, C. et al. Pointers to earlier diagnosis of endometriosis: a nested case-control study using primary care electronic health records. Br. J. Gen. Pract. 67, e816–e823 (2017). 37. Hsu, A. L. et al. Coronavirus disease 2019 (COVID-19) disease severity: pregnant vs. nonpregnant women at 82 facilities.Clin. Infect. Dis 74, 467–471 (2022). 38. Molina, R. L. et al. Comparison of pregnancy and birth outcomes before vs. during the COVID-19 pandemic. JAMA Netw. Open 5, e2226531 (2022). 39. Miller, M. J. et al. Impact of COVID-19 on cervical cancer screening rates among women aged 21 –65 years in a large integrated health care system—Southern California, January 1 –September 30, 2019, and January 1–September 30, 2020. Morb. Mortal. Wkly. Rep. 70, 109–113 (2021). 40. Amit, G. et al. Antidepressant use during pregnancy and the risk of preterm birth – a cohort study. npj Womens Health 2,1 –7 (2024). 41. Ross, L. E. et al. Selected pregnancy and delivery outcomes after exposure to antidepressant medication: a systematic review and meta-analysis. JAMA Psychiatry 70, 436–443 (2013). 42. Eke, A. C., Saccone, G. & Berghella, V. Selective serotonin reuptake inhibitor (SSRI) use during pregnancy and risk of preterm birth: a systematic review and meta-analysis. BJOG Int. J. Obstet. Gynaecol. 123, 1900–1907 (2016). 43. Abraham, A. et al. Dense phenotyping from electronic health records enables machine learning-based prediction of preterm birth. BMC Med. 20, 333 (2022). 44. Huang, H. et al. Investigation of association between environmental and socioeconomic factors and preterm birth in California. Environ. Int. 121, 1066–1078 (2018). 45. Oh, S. S. et al. Diversity in clinical and biomedical research: a promise yet to be ful filled. PLoS Med. 12, e1001918 (2015). 46. Ibrahim, H., Liu, X., Zariffa, N., Morris, A. D. & Denniston, A. K. Health data poverty: an assailable barrier to equitable digital health care. Lancet Digit. Health 3, e260–e265 (2021). 47. Kons, K. M. et al. Exclusion of reproductive-aged women in COVID-19 vaccination and clinical trials. Women’s Health Issues 32, 557–563 (2022). https://doi.org/10.1038/s44294-024-00019-x Perspective npj Women's Health | (2024) 2:14 5 48. Oskotsky, T. et al. Nurturing diversity and inclusion in AI in Biomedicine through a virtual summer program for high school students. PLoS Comput. Biol. 18, e1009719 (2022). 49. Rothman, K. J. Epidemiology: An Introduction (Oxford University Press, 2012). 50. Innes, G. K. et al. The measurement error elephant in the room: challenges and solutions to measurement error in epidemiology. Epidemiol. Rev 43,9 4–105 (2022). 51. Greenland, S. & Morgenstern, H. Confounding in health research. Annu. Rev. Public Health 22, 189–212 (2001). 52. Mahajan, R. et al. Standardized Protocol Items Recommendations for Observational Studies (SPIROS) for observational study protocol reporting guidelines: protocol for a Delphi Study.JMIR Res. Protoc. 9, e17864 (2020). 53. Ehrenstein, V. et al. Helping everyone do better: a call for validation studies of routinely recorded health data. Clin. Epidemiol. 8, 49–51 (2016). 54. Bolignano, D. et al. The quality of reporting in clinical research: the CONSORT and STROBE initiatives. Aging Clin. Exp. Res. 25, 9–15 (2013). 55. Tonzani, S. & Fiorani, S. The STAR methods way towards reproducibility and open science. iScience 24, 102137 (2021). 56. Fourquet, J. et al. Disparities in healthcare services in women with endometriosis with public vs private health insurance. Am. J. Obstet. Gynecol. 221, 623.e1–623.e11 (2019). 57. Balascio, P. et al. Measures of racism and discrimination in preterm birth studies. Obstet. Gynecol. 141,6 9–83 (2023). 58. Hong, X., Bartell, T. R. & Wang, X. Gaining a deeper understanding of social determinants of preterm birth by integrating multi-omics data. Pediatr. Res. 89, 336–343 (2021). 59. Hasin, Y., Seldin, M. & Lusis, A. Multi-omics approaches to disease. Genome Biol. 18, 83 (2017). 60. Ghaemi, M. S. et al. Multiomics modeling of the immunome, transcriptome, microbiome, proteome and metabolome adaptations during human pregnancy. Bioinformatics 35,9 5–103 (2019). 61. Espinosa, C. A. et al. Multiomic signals associated with maternal epidemiological factors contributing to preterm birth in low- and middle-income countries. Sci. Adv. 9, eade7692 (2023). 62. Sun, T., He, X. & Li, Z. Digital twin in healthcare: recent updates and challenges. Digit. Health 9, 20552076221149651 (2023).

Acknowledgements

The authors would like to thank Jean Costello, Claire Dubin, and Boris Oskotsky for their helpful discussion and advice. This work was funded by the National Institutes of Health (NIH) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) [P01 HD106414- 01, P01 HD106414-02, R01 HD105256] and the March of Dimes Prematurity Research Center at UCSF [60982053-50185]. The funders played no role in the study design, data collection, analysis and interpretation of data, or the writing of this manuscript. Author contributions T.T.O., O.Y., U.K., L.A. and M.S. wrote the main manuscript text, and T.T.O. and M.S. prepared Fig. 1. All authors reviewed the manuscript. Competing interests The authors declare no competing interests. Additional information Correspondenceand requests for materials should be addressed to Tomiko T. Oskotsky or Marina Sirota. Reprints and permissions informationis available at http://www.nature.com/reprints Publisher’s noteSpringer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article ’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ . © The Author(s) 2024 https://doi.org/10.1038/s44294-024-00019-x Perspective npj Women's Health | (2024) 2:14 6

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