PubMed · 14949147
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A BASERGA. 1952-05-31. [Diagnostic progress].. https://pubmed.ncbi.nlm.nih.gov/14949147/
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OBJECTIVES: The Rare Disease Diagnostic Support Program in the Republic of Korea aims to improve early diagnosis and diagnostic yield for patients with rare diseases, particularly for those residing in non-metropolitan areas, by providing whole genome sequencing (WGS) services through regional medical institutions. This study evaluated the performance of the program, focusing on its clinical utility, including early diagnosis and treatment linkage, and its policy impact related to patient benefits. METHODS: From August 2024, WGS was performed on 410 patients with suspected rare diseases at 23 institutions outside the metropolitan area. A one-stop diagnostic pathway was established to perform sample collection, test referral, report delivery, and genetic counseling within a single clinical flow based on the patient’s location of residence. Sequencing was performed by external laboratories. RESULTS: Among the 410 patients, pathogenic variants were identified in 129 (31.5%), with a turnaround time of 28 days. Of those diagnosed, 78.2% received treatment benefits via national programs such as co-payment exemption and medical expense support programs. Approximately 30% of the patients were eligible for therapeutic intervention, particularly medication or dietary therapy. Family genetic testing of three members identified potential carriers or high-risk groups in 28 households (65.1%). Consent for secondary findings was 99.0%, with clinically significant variants found in 3.9% of cases. CONCLUSIONS: The program demonstrated clinical value by improving diagnostic accessibility, reducing regional disparities, facilitating timely treatment, and supporting preventive care through family risk identification. These findings support the need for sustainable expansion of genome-based diagnostic services in the national health policy.
This paper traces the nature and fortunes of Lommius' Medicinal Observations of 1560, its relationship to ancient authors, its two-and-a-half centuries of fame, and its fall. Originating as an accessible manual of diagnosis for municipal authorities, it emphasized the observable aspects of illness and downplayed the role of humors and hidden causes. As a result, it both heralded and served the trend to symptom-based nosology. Eventually, as disease concepts shifted from symptoms to organs, Lommius was eclipsed by the next epistemic fashion: positivistic organicism. The multiple editions of this work invite us to reconsider the sustained influence of ancient writers, including Celsus, in medical pedagogy and semeiology, as well as the timing and location of the development of nosological concepts of disease. Class considerations and the proclivities of twentieth-century scholarship contributed to the obscurity of this book in our time.
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