Examining of Health Policy in Rare Diseases in Terms of Historical Perspective in Turkey

Abstract

Compared with other common diseases in the general population, a rare disease is a health condition that affects a small number of people. The progressive, life-threatening and multi-dimensional nature of these diseases requires the development of an effective health policy. The aim of this study is to examine health policy for rare diseases from a historical point of view in Turkey. Public Health Law No. 1593 provides the basis for policies developed in the field of rare diseases. In the early 2000s, genetic screening programs have been launched (neonatal metabolic and endocrine disease, inherited blood diseases, biotinidase deficiency, phenylketonuria, congenital hypothyroidism, adrenal hyperplasia, cystic fibrosis, etc.). Since 2007, Turkey has been a member of Orphanet. The Draft Guide to Orphan Drugs was published by the Ministry of Health in 2009. Since 2014, the public authorities, universities, and NGOs have been particularly interested in rare diseases. The civil society initiative 'Rare Diseases Network' was established in 2018 under the leadership of patients and their families. Some reports on rare diseases were published by TÜHKE and the TAÇESE in 2019. The Parliamentary Investigation Commission has been set up to determine the situation of some rare diseases. The Rare Diseases Department was established within the Ministry of Health in 2020. It is recommended that the National Action Plan on Rare Diseases and Orphan Drugs should be implemented to develop policies, in particular access to healthcare services, and provide economic and psychosocial support.

Keywords

• Rare diseases
• Orphan drugs
• Health policy
• Healthcare services

References

1. Aba, G. (2018). Sağlık Politikası ve Planlaması. Nobel Yayıncılık.
2. Acıbadem Üniversitesi. (2019). İSTisNA-İstanbul Tanısız ve Nadir Hastalıklara Çözüm Platformu Fizibilite Desteği Projesi. https://www.acibadem.edu.tr/haberler/istisna-istanbul-tanisiz-ve-nadir-hastaliklara-cozum-platformu-fizibilite-destegi-projesi
3. ACURARE. (nd). Hakkında. https://www.acibadem.edu.tr/rare/hakkinda/merkez-tanimi-ve-kurulus-gerekcesi
4. Aksu, B. (2009). Rare Disease and Orphan Drug Situations in Turkey and around the World. Aurum Journal of Health Sciences, 1(2), 95-109.
5. Allotey, P. A., Allotey-Reidpath, C. D., & Reidpath, D. D. (2018). Health systems implications of rare genetic conditions in low-and middle-income countries: a case study approach. Critical Public Health, 28(2), 248-252. https://doi.org/10.1080/09581596.2017.1344772
6. Anderson, M., Elliott, E. J., & Zurynski, A. Y. (2013). Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet Journal of Rare Diseases, 8(22), 1-9. https://doi.org/10.1186/1750-1172-8-22
7. Aujoulat, I., Young, B., & Salmon, P. (2012). The psychological processes involved in patient empowerment. Orphanet Journal of Rare Diseases, 7(2), 31. https://doi.org/10.1186/1750-1172-7-S2-A31
8. Aymé, S., Kole, A., & Groft, S. (2008). Empowerment of patients: lessons from the rare diseases community. The Lancet, 371(9629), 2048-2051. https://doi.org/10.1016/S0140-6736(08)60875-2

9. Aymé, S., & Rodwell, C. (2012). Report on the State of the Art of Rare Disease Activities in Europe of the European Union Committee of Experts on Rare Diseases. https://op.europa.eu/en/publication-detail/-/publication/67da4f31-41ff-4b77-a9ca-dfda08582219/language-en
10. Bogart, K. R., & Irvin, V. L. (2017). Health-related quality of life among adults with diverse rare disorders. Orphanet journal of rare diseases, 12(1), 177. https://doi.org/10.1186/s13023-017-0730-1
11. Buse, K., Mays, N., & Walt, G. (2012). Making health policy. McGraw-hill education (UK). London. Castillo-Esparcia, A., & López-Villafranca, P. (2016). Communication strategies employed by rare disease patient organizations in Spain. Ciência & Saúde Coletiva, 21, 2423-2436. https://doi.org/10.1590/1413-81232015218.19852015
12. Czech, M., Baran-Kooiker, A., Atikeler, K., Demirtshyan, M., Gaitova, K., Holownia-Voloskova, M., ... & Sykut-Cegielska, J. (2020). A review of rare disease policies and orphan drug reimbursement systems in 12 Eurasian countries. Frontiers in public health, 7, 416. https://doi.org/10.3389/fpubh.2019.00416
13. Choudhury, M. C., & Saberwal, G. (2019). The role of patient organizations in the rare disease ecosystem in India: an interview based study. Orphanet journal of rare diseases, 14(1), 117. https://doi.org/10.1186/s13023-019-1093-6
14. Çocuklar için özel gereksinim raporu (ÇÖZGER). (2019). Sayı:30692
15. Dharassi, S., Wong-Rieger, D., Harold, M. & Terry, S. (2017). Review of 11 national policies for rare diseases in the context of key patient needs. Orphanet Journal of Rare Diseases, 12 (63). https://doi.org/10.1186/s13023-017-0618-0
16. Dündar, M., & Yeșim Karabulut, S. (2010). Rare disease and orphan drugs in Turkey; medical and social problem. Erciyes Medical Journal, 32(3), 195-200.
17. EJP – RD. (2020). Call for Proposals 2021. https://www.ejprarediseases.org/wp-content/uploads/2020/12/JTC2021-1-Call-text-VF.pdf
18. Erçin, S. & Ovalı, F. (2019). Yenidoğan Taramaları. Klinik Tıp Pediatri Dergisi, 11(4), 193-199.
19. EURORDIS. (2009). The voice of 12,000 patients. Experiences and expectations of rare disease patients on diagnosis and Care in Europe: Eurordis; 2009.
20. EURORDIS. (2017). What is a rare disease? http://www.eurordis.org/sites/default/files/publications/Fact_Sheet_RD.pdf, Erişim tarihi: 12.12.2020.
21. Forman, J., Taruscio, D., Llera, V. A., Barrera, L. A., Coté, T. R., Edfjäll, C., ... & International Conference for Rare Diseases and Orphan Drugs (ICORD). (2012). The need for worldwide policy and action plans for rare diseases. Acta Paediatrica, 101(8), 805-807. https://doi.org/10.1111/j.1651-2227.2012.02705.x
22. Gammie, T., Lu, C. Y., & Babar, Z. U. D. (2015). Access to orphan drugs: a comprehensive review of legislations, regulations and policies in 35 countries. PloS one, 10(10), e0140002. https://doi.org/10.1371/journal.pone.0140002
23. GARD. (Genetic and Rare Diseases Information Center) (2017). GARD FAQs about rare diseases. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
24. Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., ... & Dawkins, H. (2019). How many rare diseases are there?. Nature Reviews Drug Discovery 19, 77-78. https://doi.org/10.1038/d41573-019-00180-y
25. Halk Sağlığı Genel Müdürlüğü. (2018). Yenidoğan Metabolik ve Endokrin Hastalık Tarama Programı (NTP). https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/yenido%C4%9Fan-i%CC%87%C5%9Fitme-taramas%C4%B1-program%C4%B1.html
26. Halk Sağlığı Genel Müdürlüğü (2018). https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/yenidogan_tarama_programi.html.
27. Huang, R., Wei, Y., Hu, J., Kong, F., He, J., Yang, Y., ... & Kang, Q. (2019). The progress of, challenges faced by, and future of rare disease patient organizations in China. Intractable & Rare Diseases Research, 8(2), 158-160. https://doi.org/10.5582/irdr.2019.01069
28. I. Türk Tıp Dünyası Kurultayı. (2014). Kurultay Raporu. https://docplayer.biz.tr/3414174-Turk-tip-dunyasi-kurultayi-29-31-ekim-2014-istanbul.html.
29. II. Türk Tıp Dünyası Kurultayı. (2015). Kurultay Raporu. https://disab.saglik.gov.tr/Eklenti/2101/0/2ttdkkitappdf.pdf
30. İlaç Bilincini Geliştirme ve Akılcı İlaç Derneği (2014). ‘Nadir Hastalıklar ve Yetim İlaç Sempozyumu ve Yetim İlaç Yönetmelik Çalıştayı’ Raporu. https://www.akilciilacdernegi.com/uploads/kongre/toplanti.pdf
31. İstanbul Üniversitesi Deneysel Tıp Araştırma Enstitüsü-İstanbul Tıp Fakültesi-Orphanet. (2016). Türkiye Nadir Hastalıklar Günü Sempozyumu. http://cdn.istanbul.edu.tr/statics/www.istanbul.edu.tr/wp-content/uploads/2016/02/nadir_hastaliklar_gunu_programi_29_subat_2016_SON.pdf
32. Kalıtsal Hastalıklarla Mücadele Kanunu. (1993). Kanun no: 3960.
33. Khosla, N., & Valdez, R. (2018). A compilation of national plans, policies and government actions for rare diseases in 23 countries. Intractable & Rare Diseases Research, 7(4), 213-222. https://doi.org/10.5582/irdr.2018.01085
34. Koay, P. P., & Sharp, R. R. (2013). The role of patient advocacy organizations in shaping genomic science. Annual review of genomics and human genetics, 14, 579-595. https://doi.org/10.1146/annurev-genom-091212-153525
35. Linertová, R., García-Pérez, L., & Gorostiza, I. (2017). Cost-of-illness in rare diseases. In Rare Diseases Epidemiology: Update and Overview (pp. 283-297). Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_17
36. Nadir Hastalıklar Ağı. (nd). Hakkımızda. https://www.nadirhastaliklaragi.org.tr/hakkimizda
37. Numanoğlu, R. (2019). Asya Ülkelerinde Nadir Hastalıklara Yönelik Politikalar. In:Özgür İnce, Merve Deniz Pak editors. Tüm Yönleriyle Nadir Hastalıklar. Ankara: Nobel Yayıncılık, p.133-149.
38. OHSAD. (nd). OHSAD 2023 Sağlık Politikaları Vizyonu. https://ohsadkurultayi.org/tr/2018-SUNUMLARI.html
39. Orphanet. (2013). About rare diseases policies. https://www.orpha.net/consor/cgi-bin/Education_AboutRareDiseases.php?lng=EN&stapage=ST_EDUCATION_EDUCATION_ABOUTRAREDISEASES_POLICI
40. Orphanet. (2020). Orphanet Türkiye web sayfası giriş noktası. http://www.orpha.net/national/TR-TR/index/orphanet-t%C3%BCrkiye/
41. Özaltun, Ş.C., Güler, C., & Şengelen, M. (2015). Sağlık taramaları. http://www.halksagligi.hacettepe.edu.tr/diger/toplumayonelik/tarama.pdf
42. Pejcic, A. V., Iskrov, G., Raycheva, R., Stefanov, R., & Jakovljevic, M. (2017). Transposition and implementation of EU rare disease policy in Eastern Europe. Expert Review of Pharmacoeconomics & Outcomes Research, 17(6), 557-566. https://doi.org/10.1080/14737167.2017.1388741
43. Pogue, R. E., Cavalcanti, D. P., Shanker, S., Andrade, R. V., Aguiar, L. R., de Carvalho, J. L., & Costa, F. F. (2017). Rare genetic diseases: update on diagnosis, treatment and online resources. Drug discovery today. 23(1), 1-9. https://doi.org/10.1016/j.drudis.2017.11.002
44. Princen, S. (2007). Agenda-setting in the European Union: a theoretical exploration and agenda for research. Journal of European Public Policy, 14(1), 21-38. https://doi.org/10.1080/13501760601071539
45. Rodwell, C., & Aymé, S. (2015). Rare disease policies to improve care for patients in Europe. Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease, 1852(10), 2329-2335. https://doi.org/10.1016/j.bbadis.2015.02.008
46. Satman, İ., Güdük, Ö., Yemenici, M., & Ertürk, N. (2019). Nadir Hastalıklar Raporu. Ankara: TÜSEB (Türkiye Halk Sağlığı ve Kronik Hastalıklar Enstitüsü).
47. Shire. (2013). Rare disease impact report: Insights from patients and the medical community. California: Global Genes. https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf
48. Soyer, T. (2019). Nadir Hastalıklarda Sınıflama ve Kodlama Sistemleri. In:Özgür İnce, Merve Deniz Pak editors. Tüm Yönleriyle Nadir Hastalıklar. Ankara: Nobel Akademik Yayıncılık
49. T.C. Sağlık Bakanlığı - Sağlık Hizmetleri Genel Müdürlüğü. (nd). Yenidoğan Metabolik ve Endokrin Hastalık Tarama Programı (NTP). https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/yenidogan_tarama_programi.html
50. T.C. Sağlık Bakanlığı - Sağlık Hizmetleri Genel Müdürlüğü. (nd). https://hasta.saglik.gov.tr/TR-30120/uluslararasi-nadir-hastaliklar-panel-ve-calistayi.html
51. TAÇESE. (2018). 2018 Yılı Birim Faaliyet Raporu. https://www.tuseb.gov.tr/tacese/uploads/genel/files/tacese-2018fr.pdf
52. TAIEX. (2009). European Neighbourhood Policy And Enlargement Negotiations. https://ec.europa.eu/neighbourhood-enlargement/tenders/taiex
53. TBMM. (nd). Türkiye Büyük Millet Meclisi Komisyon Tutanakları 27. Dönem. https://www.tbmm.gov.tr/develop/owa/komisyon_tutanaklari.tutanaklar?pKomKod=1049&pDonem=27
54. Tengilimoğlu, D., & Güzel, A. (2020). Sağlık Politikası Belirleme Süreci ve Politikayı Belirleyen Aktörler. In Sağlık Politikası, Nobel Akademik Yayıncılık. Ankara.
55. TÜHKE. (2018). 1. Bilim Kurulu Toplantı Raporu. https://www.tuseb.gov.tr/tuhke/uploads/genel/files/bilimsel_etkinlikler/birinci_bilim_kurulu_toplanti_raporu.pdf
56. TÜHKE. (nd). Türkiye Halk Sağlığı ve Kronik Hastalıklar Enstitüsü (TÜHKE) Çalıştayı. https://www.tuseb.gov.tr/tuhke/uploads/genel/files/bilimsel_etkinlikler/TUHKE-Calistay-Raporu_IV-TTDK_28-29-10-2017.pdf
57. Türk Nöroloji Derneği. (2019). 5th Rare Diseases Symposium and Neurogenetics Course. https://norogenetik.org
58. Umumi Hıfzıssıhha Kanunu. (1930), Kanun no: 1593, Resmî Gazete Sayısı: 1489
59. Walt, G., Shiffman, J., Schneider, H., Murray, S. F., Brugha, R., & Gilson, L. (2008). ‘Doing’ health policy analysis: methodological and conceptual reflections and challenges. Health policy and planning, 23(5), 308-317. https://doi.org/10.1093/heapol/czn024
60. Yıldız, G., & Yalçın, S. (2020). Gazete Haberlerinin Sağlık Politikalarının Belirlenmesi ve Uygulanmasındaki Önemi: Milliyet Gazetesi MPS ve SMA Haberleri Örneği. Kurgu, 28(1), 286-304.