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Precision Medicine in Endocrinology
Iris Isip-TanPhilippines
Moderator
AI applications and insulin managementArtificial intelligence is evolving from novel research concepts to practical clinical tools. This presentation will provide a broad overview of the current AI ecosystem, from automated insulin delivery (AID) systems to machine learning algorithms designed for glucose prediction and clinical decision support. The unique regional perspective will be addressed, exploring how diverse healthcare infrastructures and reimbursement models influence the adoption of AI innovations. The discussion will conclude by identifying key challenges in implementation, such as algorithmic equity and data security, to outline a framework for the future integration of AI into daily practice.
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Shih-Li SuTaiwan
Speaker
Sex-Specific Approaches in Precision Medicine: Advancing Endocrinology CareSex differences are fundamental determinants of endocrine physiology and disease. Conventional approaches that treat men and women as biologically equivalent overlook variations in hormonal regulation, immune response, organ function, and pharmacologic metabolism. Precision medicine in endocrinology integrates these sex-specific biological and environmental factors to achieve individualized care.
Emerging evidence shows that women are more prone to autoimmune thyroid disease, prolactinoma, and osteoporosis, largely due to estrogen-enhanced immune activity and X-chromosome dosage effects. Men, by contrast, experience higher rates of hypogonadism, visceral obesity, and aggressive endocrine tumors, reflecting androgen decline and single X-chromosome vulnerability. Hormonal effects, such as menopause-related bone loss, are often reversible, whereas chromosomal influences—such as those seen in Turner and Klinefelter syndromes—are irreversible and genetically determined.
Pharmacokinetic and pharmacodynamic disparities further highlight the need for sex-informed dosing. Women generally have higher CYP3A4 activity and altered drug binding via increased sex hormone–binding globulin. In Asian populations, genetic polymorphisms, including the high prevalence of BRAF^V600E^ mutations in papillary thyroid cancer and variable androgen receptor CAG repeats, demand region-specific precision strategies.
Sex-specific precision endocrinology moves beyond a uniform model of care by recognizing biological sex as a key variable in disease risk and treatment response. Incorporating sex-stratified analyses, adjusted diagnostic thresholds, and personalized pharmacotherapy can enhance diagnostic accuracy and therapeutic safety. For Asia, integrating genetic and environmental diversity is essential to advance equitable, individualized endocrine care.
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Miyuki KataiJapan
Speaker
From the Bedside to the Digital World: Precision Medicine in Endocrinology with Al and ICTPrecision medicine in endocrinology must account for biological variability, life-course hormonal transitions, and sociocultural determinants of health. However, in routine clinical practice, endocrine disorders are often detected only after prolonged symptomatic periods, particularly when symptoms are nonspecific or overlap with normal physiological transitions.
Our work originates from bedside clinical challenges. In developing and operating a comprehensive women’s specialty clinic grounded in sex-specific medicine—representing an innovative clinical model in Japan—we evaluated more than 5,000 women. Among patients who presented to our clinic with a prior diagnosis of menopausal disorders, organic diseases were identified in 27%. Thyroid dysfunction accounted for approximately 15% of cases initially attributed to menopausal disorders. These findings suggest that menopausal diagnoses may contribute to delayed recognition of underlying diseases. Among conditions masked by such symptoms, endocrine disorders were frequently identified, likely because many endocrine diseases require additional targeted laboratory testing for definitive diagnosis. Within endocrine disorders, thyroid dysfunction was particularly prevalent in women.
To address this unmet need, we developed the Women’s AI Symptom Evaluator (WaiSE), a digital platform designed to visualize multidimensional symptom patterns using AI-assisted structured questionnaires. WaiSE was developed to support detection of a broad spectrum of underrecognized conditions in women, including endocrine disorders such as thyroid disease. Importantly, these digital tools help women recognize and articulate complex autonomic symptom patterns commonly experienced during menopausal transitions, thereby enabling clinicians to better interpret symptom presentations and facilitating earlier detection of endocrine disorders. The platform is supported by a gender-specific clinical database derived from over 5,000 patients and more than 60,000 consultations, enabling symptom–diagnosis correlation modeling and development of sex-informed diagnostic algorithms.
Building upon this clinical and digital foundation, we have recently initiated an integrated endocrine screening strategy through collaboration with the AI-based Thyroid Screening (AITS) platform. We collaborated with Cosmic Corporation, the developer of the AI-based Thyroid Screening (AITS) system. AITS is an AI-based screening system that analyzes routine blood test results obtained in general screening programs, including health checkups, to estimate the likelihood of thyroid dysfunction. The integrated WaiSE–AITS system combines patient-reported symptom assessment through WaiSE with objective clinical indicators derived from AITS to assist in identifying individuals who may require additional thyroid function testing. The integrated system is being developed with the aim of future regulatory approval as Software as a Medical Device (SaMD). This integrated platform can be utilized in clinical practice settings as well as in health screening programs and occupational health settings, demonstrating feasibility in capturing real-world symptom data beyond hospital-centered care. The combined system is designed as a physician-supervised clinical decision-support tool intended to assist healthcare professionals in identifying patients who may benefit from further thyroid evaluation, while maintaining physician responsibility for final diagnostic decisions.
This presentation highlights the clinical background, digital innovation process, and emerging collaborative screening strategies, demonstrating how bedside endocrinology can evolve into digitally supported precision care incorporating a life-course approach for women.
Acknowledgements:This research was supported by AMED (Grant Number: JP21gk0210024h9903) and by grants from METI, Japan.
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Ronald MaHong Kong, China
Speaker
Precision Medicine in Diabetes: Perspectives from AsiaPrecision Medicine in Diabetes: Perspectives from Asia
Abstract
Diabetes is traditionally classified into type 1 diabetes, type 2 diabetes and gestational diabetes as the main forms of diabetes. However, there is increasing recognition that there is significant hidden heterogeneity within diabetes. Resolving this heterogeneity of diabetes can help facilitate personalized treatment and precision medicine in diabetes. For example, identification of specific monogenic forms of diabetes may facilitate tailored choices of diabetes medications. Precision diagnosis also includes the use of biomarkers to correctly identify adults presenting with autoimmune diabetes for appropriate treatment. Recent advances have included the use of clinical characteristics to empower subtyping of adult-onset diabetes through different clustering strategies. Regardless of the approach of subclassification, the essence of diabetes subtyping is to differentiate between individuals with diabetes due to different underlying pathophysiological defects, and hence have different prognosis towards complications or response to treatment. Recent advances in precision prognostics have also highlighted strategies that can identify high-risk individuals for more intensive treatment. An international consortium initiated by the American Diabetes Association and European Association for the Study of Diabetes (EASD) has reviewed the landscape for precision medicine in diabetes to map our current understanding, as well as outline future directions. The ability to resolve the heterogeneity in diabetes, and thereby provide treatment that is best tailored to the underlying pathophysiology, provides exciting opportunities to realize precision medicine in diabetes towards better patient outcomes.
References
1. Leslie RD, Ma RCW, Franks PW, Nadeau KJ, Pearson ER, Redondo MJ. Understanding diabetes heterogeneity: key steps towards precision medicine in diabetes. Lancet Diabetes Endocrinol. 2023 Nov;11(11):848-860.
2. Tobias D, Merino J et al, Second International Consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine. Nature Medicine 2023; 29: 2438-2457.
Challenging Cases in EndocrinologyIn this meet the professor session, we will use 4-5 case scenarios to illustrate diagnostic challenges around clinical endocrinology and diabetes and discuss management strategies.
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