دورية أكاديمية
أعرض في EDS

The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.

التفاصيل البيبلوغرافية
العنوان: The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems.
المؤلفون: Tisdale A; Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, MD, 20817, USA., Cutillo CM; NCATS NIH, Bethesda, MD, 20817, USA., Nathan R; Eversana Life Science Services, LLC, Chicago, IL, USA., Russo P; Eversana Life Science Services, LLC, Chicago, IL, USA.; Population Health Management Spring Hills MSO, Edison, NJ, 08817, USA., Laraway B; Oregon Health and Science University (OHSU), Portland, OR, 97239, USA., Haendel M; University of Colorado, Anschutz Medical Campus, Aurora, CO, 80045, USA., Nowak D; Sanford Health, Sioux Falls, SD, 57117, USA., Hasche C; Sanford Health, Sioux Falls, SD, 57117, USA., Chan CH; Sanford Research, Sioux Falls, SD, 57104, USA., Griese E; Sanford Research, Sioux Falls, SD, 57104, USA.; Sanford Health Plan, Sioux Falls, SD, 57103, USA., Dawkins H; School of Medicine, The University of Notre Dame Australia, Sydney, Australia., Shukla O; Eversana Life Science Services, LLC, Chicago, IL, USA., Pearce DA; Sanford Health, Sioux Falls, SD, 57117, USA.; Sanford Research, Sioux Falls, SD, 57104, USA.; Sanford School of Medicine, University of South Dakota, Sioux Falls, SD, 57105, USA., Rutter JL; NCATS NIH, Bethesda, MD, 20817, USA., Pariser AR; Office of Rare Diseases Research (ORDR), National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, MD, 20817, USA. anne.pariser@nih.gov.
المصدر: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 22; Vol. 16 (1), pp. 429. Date of Electronic Publication: 2021 Oct 22.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [London] : BioMed Central, 2006-
مواضيع طبية MeSH: Machine Learning* , Rare Diseases*, Costs and Cost Analysis ; Delivery of Health Care ; Humans ; Pilot Projects
مستخلص: Background: Rare diseases (RD) are a diverse collection of more than 7-10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorders, the medical needs of RD patients are not well recognized or quantified in healthcare systems (HCS).
Methodology: We performed a pilot IDeaS study, where we attempted to quantify the number of RD patients and the direct medical costs of 14 representative RD within 4 different HCS databases and performed a preliminary analysis of the diagnostic journey for selected RD patients.
Results: The overall findings were notable for: (1) RD patients are difficult to quantify in HCS using ICD coding search criteria, which likely results in under-counting and under-estimation of their true impact to HCS; (2) per patient direct medical costs of RD are high, estimated to be around three-fivefold higher than age-matched controls; and (3) preliminary evidence shows that diagnostic journeys are likely prolonged in many patients, and may result in progressive, irreversible, and costly complications of their disease CONCLUSIONS: The results of this small pilot suggest that RD have high medical burdens to patients and HCS, and collectively represent a major impact to the public health. Machine-learning strategies applied to HCS databases and medical records using sentinel disease and patient characteristics may hold promise for faster and more accurate diagnosis for many RD patients and should be explored to help address the high unmet medical needs of RD patients.
(© 2021. The Author(s).)
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فهرسة مساهمة: Keywords: Diagnosis; Health care costs; Rare diseases; Utilization
تواريخ الأحداث: Date Created: 20211022 Date Completed: 20211101 Latest Revision: 20220430
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC8532301
DOI: 10.1186/s13023-021-02061-3
PMID: 34674728
قاعدة البيانات: MEDLINE
الوصف
تدمد:1750-1172
DOI:10.1186/s13023-021-02061-3