Browsing by Author "Fidan, Caglar"

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    Carrier Screening Programs for Rare Diseases in Developed Countries and the Case of Turkey: A Systematic Review
    (2023) Fidan, Caglar; Akdur, Recep; Unver, Cigdem Naz; Sahin, Omer Can; Alper, Asli Begum; Ayhan, Ali; 37662625
    Effective control of rare diseases requires health programs based on principles of protection and prevention. Carrier screening programs serve as preventive measures by identifying at -risk groups. This review examines the impact, implementation, advantages, and disadvantages of carrier screening, incorporating examples from ten countries: the United States, Canada, the United Kingdom, Israel, China, Australia, Italy, Germany, the Netherlands, and Turkey. Data on carrier screening and related policies were collected from July to November 2022 and presented in a tabular format using a coding system devised by the authors. Variability was observed in the diseases/disorders and populations screened, screening expenses, and government provision across the countries. The number of diseases/disorders examined, ranging from 3 to 47, was determined by committee guidelines, government resources, pilot studies, and national institute resources. Notably, carrier screening programs exhibited greater worldwide inconsistency compared to newborn screening programs. The comparative analysis of developed countries serves to guide emerging nations. To address inequalities at both local and global levels, there is a need to enhance the establishment, development, and implementation of carrier screening programs. Furthermore, cost analyses of screening should be conducted, and adequate funding should be allocated to countries. In conclusion, this review highlights the preventive potential of carrier screening for rare diseases and emphasizes the importance of improving carrier screening programs globally to achieve equitable healthcare outcomes.
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    Expanded New Born Bloodspot Screening: Developed Country Examples And Shat Can Be Done In Turkey
    (2022) Fidan, Caglar; Orun, Huseyin; Alper, Asli Begum; Unver, Cigdem Naz; Sahin, Omer Can; Ugurlu, Zeynep; Akdur, Recep; Taruscio, Domenica; https://orcid.org/0000-0002-4384-0881; https://orcid.org/0000-0002-1713-4342; 35702584; AAG-9736-2019; GPW-7632-2022
    Bloodspot screening in newborns is an exemplary public health intervention as it is essential secondary prevention with proven efficacy and benefit for the early diagnosis and prompt treatment of rare diseases. In this mini review, newborn bloodspot screening (NBS) programs of 12 countries were examined in terms of the extent of diseases/disorders screened to form recommendations for Turkey's expanded newborn screening program. Essentially, Turkey and 11 selected countries' official policies/ national programs or strategies in terms of newborn screening and the number of diseases/conditions screened were examined. The current status of spinal muscular atrophy (SMA) screening was also checked through the SMA NBS Alliance. In addition, WHO and EURORDIS guidelines for newborn screening were also reviewed. On the Pubmed database, following the search strategy "((newborn screening[Title/Abstract]) OR (newborn screening program[Title/Abstract])) OR (newborn blood spot screening[Title/Abstract])" in the PubMed database from 1 January 2008 to 1 December 2021. Diseases that will be recommended to be included in the Turkish national newborn bloodspot screening program will be presented by evaluating the updated criteria of Wilson and Jungner by constructing international comparisons. The number of diseases/disordeis screened by the inspected 12 countries is eminently variable and ranges from 5 in Turkey to 51 in New York, United States of America (USA). Acknowledging the programs of other countries, it is evident that Turkey must advance its program by evaluating the epidemiological data in Turkey, the health workforce, and infrastructure while relying on the updated screening criteria. The newborn bloodspot screening program should be expanded based on the cost estimates and implemented starting with pilot applications and the diseases/disorders that are deemed appropriate should be included in the national program.