Ethical and social aspects on rare diseases

Rare diseases are a heterogenic group of disorders with a little in common except of their rarity affecting by less than 5 : 10.000 people. In the world is registered about 6000-8000 rare diseases with 6-8% suffering population only in the European Union. In spite of rarity, they represent an important medical and social problem due to their incidence. For many rare diseases have no treatment, but if it exists and if started on time as being available to patients, there is a good prognosis for them to be able for normal life. The problems of patients affected by rare diseases are related to the lack of diagnosis and timely undergoing as well as their treatment or prevention. Orphan drugs are products intended for treatment, diagnosis or prevention of rare diseases, but for their development and marketing the industry has not been interested in yet because of their marketing reasons. Patients suffering from a rare disease although belonging to the vulnerable group for their specific health needs, is becoming invisible in the health care system due to their additional needs un properly recognized. Ethical problems faced by patients, but also health care professionals are related to the allocation of medical diagnostics, unequal approach to health care, inappropriately specialized social services as well as therapy and rare orphan drugs unavailability. Ethical questions related to clinical trails on orphan drugs, population screening and epidemiology testing on rare diseases will also be discussed in this paper. [Projekat Ministarstva nauke Republike Srbije, br. 41004: Rare diseases: Molecular pathophysiology, the diagnostic and therapeutical modalities, social, ethical and legal aspects] Retke bolesti su veoma heterogena grupa poremecaja i imaju malo toga zajednickog osim retkosti, posto pogadjaju manje od pet osoba na 10.000 ljudi. U svetu je evidentirano izmedju 6.000 i 8.000 retkih bolesti koje pogadjaju sest do osam procenata stanovnistva samo u Evropskoj uniji. Dakle, iako retke, one predstavljaju vazan medicinski i socijalni problem s obzirom na broj obolelih. Za mnoge retke bolesti nema terapije, a ukoliko ona postoji i ako se na vreme zapocne i bude dostupna pacijentima, postoje dobri izgledi da ce oboleli moci da zive normalnim zivotom. Problemi s kojima se susrecu pacijenti sa retkim bolestima vezani su za dijagnostikovanje u smislu nemogucnosti ili nepravovremenog postavljanja dijagnoze, kao i same terapije ili prevencije pojave bolesti. Orphan lekovi su proizvodi koji su namenjeni za lecenje, dijagnozu ili prevenciju retkih bolesti, za ciji razvoj i marketing industrija nije zainteresovana iz trzisnih razloga. Pacijenti s retkim bolestima, iako pripadaju osetljivoj grupi, jer imaju specificne zdravstvene potrebe, ostaju nevidljivi u zdravstvenom sistemu, jer se njihove dodatne specificne potrebe ne prepoznaju. Eticki problemi s kojima se susrecu pacijenti, ali i zdravstveni radnici, ticu se alokacije zdravstvene dijagnostike, nejednakog pristupa zdravstvenoj zastiti i nezi, nedostatka specijalizovanih socijalnih usluga, kao i nepostojanja i nedostupnosti terapije orphan lekovima. Eticka pitanja retkih klinickih ispitivanja orphan lekova i populacionih i skrining ispitivanja u vezi sa retkim bolestima takodje su razmatrani u ovom radu. PR Projekat Ministarstva nauke Republike Srbije, br. 41004: Rare diseases: Molecular pathophysiology, the diagnostic and therapeutical modalities, social, ethical and legal aspects