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.

Knowledge and awareness level of healthcare professional candidate students on inherited metabolic diseases: a cross-sectional study

“…Newborns born in university hospitals in 27 cities in Turkey have been screened for phenylketonuria since 1986, and since 2006, a phenylketonuria newborn screening program has been implemented by the Ministry of Health throughout the country [ 10 , 26 ]. When rare diseases are considered, awareness has increased recently thanks to patient associations around the world, and in 2019, some associations were united under the umbrella of the Rare Diseases Network, and the problems experienced started to be addressed [ 27 ]. Likewise, in our country, a parliamentary commission titled “Treatment and Care Methods for ALS (amyotrophic lateral sclerosis), SMA (spinal muscular atrophy), DMD (duchenne muscular dystrophy), MS (multiple sclerosis) and Other Diseases of Unknown Treatment and Detection of Diseases” was established in the Turkish Grand National Assembly in 2019 [ 28 ].…”

Öksüz İlaçlar ve Öksüz İlaçların Yeni İlaç Geliştirilmesindeki Yeri

“…Düşük prevalansa sahip olduğu için 'nadir hastalık' olarak tanımlanan hastalıklar, genellikle genetik, kronik ve karmaşık olabilmektedir [1][2][3][4]. Nadir hastalık tanımları ülkelere göre değişmekte, Amerika Birleşik Devletleri'nde (ABD) 200.000'den, Japonya'da 50.000'den, Avrupa Birliği'nde (AB) 10.000'den, Avustralya'da ise 2000'den az kişiyi etkileyen hastalıkları kapsadığı bildirilmektedir [1][2][3]5].…”