Emerging areas of personalized medicine in Obstetrics and Gynaecology: a narrative review

Roxanne H. Leung; Alyssa Belfiore; Hannah Whibbs; Emma Wilson; Hoyang Seo; Sydney Rotman

doi:10.33178/SMJ.2024.1.18

Authors

Roxanne H. Leung School of Medicine, University College Cork, Cork, Ireland; OBGYN sub-committee, University College Cork, Cork, Ireland
Alyssa Belfiore School of Medicine, University College Cork, Cork, Ireland; OBGYN sub-committee, University College Cork, Cork, Ireland
Hannah Whibbs School of Medicine, University College Cork, Cork, Ireland; OBGYN sub-committee, University College Cork, Cork, Ireland
Emma Wilson School of Medicine, University College Cork, Cork, Ireland; OBGYN sub-committee, University College Cork, Cork, Ireland
Hoyang Seo School of Medicine, University College Cork, Cork, Ireland; OBGYN sub-committee, University College Cork, Cork, Ireland
Sydney Rotman School of Medicine, University College Cork, Cork, Ireland; OBGYN sub-committee, University College Cork, Cork, Ireland

DOI:

https://doi.org/10.33178/SMJ.2024.1.18

Keywords:

personalized medicine, precision medicine, narrative review

Abstract

Importance: Obstetrics and gynaecology (OBGYN) focuses on women’s reproductive health. Many significant challenges in the field of OBGYN stem from limitations in screening, diagnostic, or treatment options. Conditions that are poorly understood, such as pre-eclampsia or endometriosis offer few management options or prevention strategies. In recent years, growing interest and advancements in personalized medicine have led to a deeper understanding of the aetiology and pathophysiology of OBGYN conditions, potential targets for intervention, and novel approaches to management. The aim of this review is to briefly describe some of these emerging areas of research and clinical use.

Observations: Personalized medicine in obstetrics is a foundational concept underlying routine prenatal care and also drives ongoing research in areas such as advanced assisted reproductive technology, screening for medical complications during pregnancy, and fetal treatment in utero of congenital diseases. In gynaecology, developments in our understanding of determinants and mechanisms of common conditions have illuminated potential avenues for improved diagnosis and more individualized approaches to treatment of endometriosis and postmenopausal symptoms.

Conclusions and Relevance: Personalized medicine is a flourishing area of research and clinical application with the potential for significant benefits to OBGYN patients. This concept has driven research interest and advancement in OBGYN disease processes that are poorly understood and offers potential novel diagnostic and treatment options for the future. With endless potential to improve the health outcomes of women and children, personalized approaches to screening, diagnosis, and management are worthwhile investments.

References

Hazlina NH, Norhayati MN, Bahari IS, Arif NA. Worldwide prevalence, risk factors and psychological impact of infertility among women: a systematic review and metaanalysis. BMJ open. 2022 Mar 1;12(3):e057132.

Centers for Disease Control and Prevention (2011). 2015 Assisted Reproductive Technology National Summary Report. Atlanta, GA: Centers for Disease Control, and Prevention.

Wahid B, Bashir H, Bilal M, Wahid K, Sumrin A. Developing a deeper insight into reproductive biomarkers. Clin Exp Reprod Med. 2017;44(4):159-170. doi:10.5653/ cerm.2017.44.4.159

Simon C, Sakkas D, Gardner DK, Critchley HO. Biomarkers in reproductive medicine: the quest for new answers. Human reproduction update. 2015 Nov 1;21(6):695-7.

Moore K, Colombo N, Scambia G, Kim BG, Oaknin A, Friedlander M, Lisyanskaya A, Floquet A, Leary A, Sonke GS, Gourley C. Maintenance olaparib in patients with newly diagnosed advanced ovarian cancer. New England Journal of Medicine. 2018 Dec 27;379(26):2495-505.

Papastefanou I, Wright D, Syngelaki A, Akolekar R, Nicolaides KH. Personalized stratification of pregnancy care for small for gestational age neonates from biophysical markers at midgestation. Am J Obstet Gynecol. 2023;229(1):57.e1-57.e14

Cariati F, D’Argenio V, Tomaiuolo R. The evolving role of genetic tests in reproductive medicine. J Transl Med. 2019;17:267.

Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008 Oct 21;105(42):16266–16271.

Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar;14(3):296–305.

Lo YM, Chan KCA, Sun H, Chen EZ, Jiang P, Lun FMF, 134 Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RWK. Maternal plasma DNA sequencing reveals the genomewide genetic and mutational profile of the fetus. Sci Transl Med. 2010 Dec 8;2(61):61ra91.

Perisic MM, Vladimir K, Karpov S, Štorga M, Mostashari A, Khanin R. Polygenic Risk Score and Risk Factors for Gestational Diabetes. JAMA. 2022;12(9):1381.

Stepan H, Hund M, Andraczek T. Combining Biomarkers to Predict Pregnancy Complications and Redefine Preeclampsia: The Angiogenic-Placental Syndrome. Hypertension. 2020;75(4):918–926.

Shanahan MA, Aagaard KM, McCullough LB, Chervenak FA, Shamshirsaz AA; Society for Maternal-Fetal Medicine (SMFM). Beyond the scalpel: in utero fetal gene therapy and curative medicine. Am J Obstet Gynecol. 2021;225(6):PB9-B18.

Bertozzi S, Corradetti B, Seriau L, Diaz Ñañez JA, Cedolini C, Fruscalzo A, Cesselli D, Cagnacci A, Londero AP. Nanotechnologies in Obstetrics and Cancer during Pregnancy: A Narrative Review. J Pers Med. 2022;12(8):1324.

INFANT - A research centre focused entirely on pregnancy, birth and early childhood (2023). Achievements. https:// www.infantcentre.ie/impact-1/. Accessed December 20, 2023.

Jackson P, Power-Walsh S, Dennehy R, O’Donoghue K. Fatal Fetal anomaly: Experiences of women and their partners. Prenatal Diagnosis. 2023; 43(4): 553-562.

Zhang PY, Yu Y. Precise Personalized Medicine in Gynecology Cancer and Infertility. Frontiers in Cell and Developmental Biology. 2020;7. doi:https://doi. org/10.3389/fcell.2019.00382

Feider CL, Woody S, Ledet S, et al. Molecular Imaging of Endometriosis Tissues using Desorption Electrospray Ionization Mass Spectrometry. Scientific Reports. 2019;9(1). doi:https://doi.org/10.1038/s41598-019- 51853-y

McKinnon B, Konstantinos Nirgianakis, Ma L, et al. Computer-Aided Histopathological Characterisation of Endometriosis Lesions. Journal of Personalized Medicine. 2022;12(9):1519-1519. doi:https://doi.org/10.3390/ jpm12091519

PrecisionLife licenses OXEGENE dataset to develop personalized treatments for endometriosis. News-Medical. net. Published July 10, 2023. Accessed December 20, 2023. https://www.news-medical.net/news/20230710/ PrecisionLife-licenses-OXEGENE-dataset-to-developpersonalized-treatments-for-endometriosis.aspx

Manson JE. The role of personalized medicine in identifying appropriate candidates for menopausal estrogen therapy. Metabolism. 2013 Jan;62 Suppl 1:S15- 9. doi: 10.1016/j.metabol.2012.08.015. Epub 2012 Sep 25. PMID: 23018143.

Wild RA, Manson JE. Insights from the Women's Health Initiative: individualizing risk assessment for hormone therapy decisions. Semin Reprod Med. 2014 Nov;32(6):433-7. doi: 10.1055/s-0034-1384626. Epub 2014 Oct 16. PMID: 25321420.

Yale School of Medicine. A Conversation on the Future of Women’s Health Research with Dr. Janine Clayton, Director of the NIH Office of Research on Women’s Health. https://medicine.yale.edu/news-article/a-conversationon-the-future-of-womens-health-research-with-dr-janineclayton-director-of-the-nih-office-of-research-on-womenshealth/. Accessed December 8, 2023.

Bill and Melinda Gates Foundation. Better contraceptives are coming. https://www.gatesfoundation.org/ ideas/articles/why-we-must-invest-in-new-womenscontraceptive-options. Accessed December 8, 2023.

Bill and Melinda Gates Foundation. I joined 1,800 maternal health experts in Cape Town. What I heard gave me hope for moms and newborns. https://www.gatesfoundation. org/ideas/articles/maternal-newborn-health-innovationpolicy-imnhc-2023. Accessed December 8, 2023.