PubMed · 13671987
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I BOLL. 1959-06-05. [Hematological study methods in office practice].. https://pubmed.ncbi.nlm.nih.gov/13671987/
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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.
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Patients who have advanced illness present unique challenges to the specialist physician. Gastroenterologic care of this group of patients has changed substantially over the past 2 decades, with diagnostic and therapeutic procedures often supplanting the more communication-based aspects of care. At the same time,given the range of patients' palliative needs and the increasingly important role of the gastroenterologist in their overall care, the physician has a responsibility to develop basic competencies in palliative medical practice. Skill in palliative assessment can help the physician assure that care remains finely attuned to the goals, needs, and priorities of the patient and family. Acquiring and applying palliative care skills will, as a result, lead to both better outcomes for patients and families and a fully satisfying professional experience for the physician.