Rare diseases gather up a large number of different pathologies, all very different among them but similar for the low statistical attendance of population (penetrance). Therefore there is a very low number of patients sick of the same pathology and their presence in different geographical areas makes objectively difficult to recruit patients in order to study their disease and coordinate and organize the research of the pathology. As a consequence there is a very reduced possibility to carry on clinical studies and genetic researches. In this framework, in order to face the dramatic necessity of sociological and sanitary assistance, treatment and rehabilitation of the rare patients, families members generally organize Rare Diseases Patient Organizations. At the moment these organizations develop an important activity with regard to organization, proposals, direct participation and publication of the scientific research results. These organizations also play an important part in supporting the organization and the realization of clinical trials. They play in total autonomy and are indepen-dent from every ethical and scientific oversight by the sanitary authorities and ethical committees. This extraordinary event known as "Research Led by Participants", has been realized thanks to the large contacts possibilities and organization offered by the web which made possible the creation of virtual communities of patients, of blog and web site for information and communication and, more recently, for collecting statistical data, publication of the patients research results and the recruitment of patients in order to manage the studies following the rules and models proposed, for example, by the web site "PatientsLikeMe". We must however put in evidence the important ethical issues involved in the research led by the participants. These aspects concern, obviously, either the scientific validity of these studies or the protection of the subjects who accept to be submitted to the experimentation. It is a completely new way of experimentation that requires the capacity to propose and follow a governance that must be accepted and shared by citizens/patients, "third sector", research workers, institutions and ethical committees able to exploit the potential advantageous knowledge and create ethical rules inspired to those new situations. In this article it will be proposed a theoretical model of governance of this phenomenon and also it will be outlined ethical rules for operative plans.
Le malattie rare raggruppano un numero elevato di patologie molto diverse tra loro, accumunate, dalla bassissima frequenza statistica nella popolazione (penetranza). Ne consegue una scarsissima numerosità di pazienti per ogni singola patologia e una loro distribuzione in diverse aree geografiche, fattori che comportano oggettive difficoltà nel reclutamento dei pazienti in studi sperimentali e nel coordinamento e organizzazione della ricerca con conseguente ridotta possibilità di effettuare studi clinici e ricerche di carattere genetico. In tale quadro, al fine di fare fronte alle drammatiche necessità di assistenza socio-sanitaria, cura e riabilitazione dei malati rari, sono sorte, in gran parte per merito degli stessi familiari, le associazioni di malati rari. Attualmente tali associazioni svolgono un'attività significativa nella proposizione, organizzazione, partecipazione diretta e pubblicazione dei risultati di ricerche scientifiche. Tale ruolo, rende le associazioni dei pazienti protagoniste anche nel sostegno all'organizzazione e realizzazione di studi clinici e sperimentazioni di farmaci in modo del tutto autonomo e indipendente da controlli da parte delle autorità sanitarie e dei comitati etici. Tale fenomeno noto come "Research Led by Participants" è stato reso possibile dalle enormi potenzialità di contatto e organizzazione offerte dalla rete che ha consentito la creazione di comunità virtuali di pazienti, di siti e blog dedicati all'informazione e comunicazione, e più recentemente, alla raccolta di dati, alla pubblicazione di risultati di ricerche condotte dai malati, nonché al reclutamento degli stessi per la conduzione di tali studi, secondo il modello proposto, ad esempio, dal sito PatientsLikeMe. Non possono tuttavia essere trascurati gli importanti aspetti etici implicati dalla ricerca condotta dai partecipanti. Tali aspetti concernono, come evidente, sia la validità scientifica di tali studi che la protezione dei soggetti che aderiscono alla sperimentazione. Si tratta di una forma di sperimentazione del tutto nuova che richiede la capacità di proporre una modalità di gestione condivisa tra cittadini/pazienti, "terzo settore", ricercatori, istituzioni e comitati etici in grado di valorizzarne i potenziali benefici conoscitivi creando regole etiche "misurate" su tali circostanze. Nell'articolo sarà proposto un modello teorico di governance del fenomeno e saranno indicati possibili criteri etici operativi.
L'autosperimentazione nelle malattie rare: analisi dei profili etici e indicazioni per una possibile governance
Elena Mancini
2017
Abstract
Rare diseases gather up a large number of different pathologies, all very different among them but similar for the low statistical attendance of population (penetrance). Therefore there is a very low number of patients sick of the same pathology and their presence in different geographical areas makes objectively difficult to recruit patients in order to study their disease and coordinate and organize the research of the pathology. As a consequence there is a very reduced possibility to carry on clinical studies and genetic researches. In this framework, in order to face the dramatic necessity of sociological and sanitary assistance, treatment and rehabilitation of the rare patients, families members generally organize Rare Diseases Patient Organizations. At the moment these organizations develop an important activity with regard to organization, proposals, direct participation and publication of the scientific research results. These organizations also play an important part in supporting the organization and the realization of clinical trials. They play in total autonomy and are indepen-dent from every ethical and scientific oversight by the sanitary authorities and ethical committees. This extraordinary event known as "Research Led by Participants", has been realized thanks to the large contacts possibilities and organization offered by the web which made possible the creation of virtual communities of patients, of blog and web site for information and communication and, more recently, for collecting statistical data, publication of the patients research results and the recruitment of patients in order to manage the studies following the rules and models proposed, for example, by the web site "PatientsLikeMe". We must however put in evidence the important ethical issues involved in the research led by the participants. These aspects concern, obviously, either the scientific validity of these studies or the protection of the subjects who accept to be submitted to the experimentation. It is a completely new way of experimentation that requires the capacity to propose and follow a governance that must be accepted and shared by citizens/patients, "third sector", research workers, institutions and ethical committees able to exploit the potential advantageous knowledge and create ethical rules inspired to those new situations. In this article it will be proposed a theoretical model of governance of this phenomenon and also it will be outlined ethical rules for operative plans.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
