How did uncommon disorders become ‘rare diseases’? History of a boundary object

Abstract

The category of 'rare diseases' has been in growing use in the fields of public health and patient advocacy for the past 15 years in Europe. In this socio-historical inquiry, I argue that this category, which appeared initially as a by-product of the orphan drug issue in the United States of America is a boundary object. As such, it has different specific local uses: a meaningless category for physicians, it relates to the patients' experience of illness, whereas the pharmaceutical industry first considered it as being synonymous with small markets and then with innovation. Public bodies contributed to framing a common and blurred use, based on a statistical definition whose purpose was to foster co-operation between the four groups involved in the issue. In the definition process of the category of rare diseases, the key actors were the patients and public bodies, not medical professionals or the pharmaceutical industry.

Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

“…A European study indicates the term does not have a common meaning across all stakeholders and is meaningless for clinicians [41]. Making assumptions that all stakeholders have similar understandings of the symposium outcomes, simply because they used the same terminology to arrive at those outcomes, might be problematic for the development of a national plan.…”

Mapping the Sociology of Health and Medicine

“…with regard to Anthropology, see Stocking 1995); the building of credibility and the generation of authority for the discipline (Gaziano 1996;Mizrachi and Shuval 2005); the establishment and demarcation of territory through discursive struggle (Gieryn 1983;Cooke 1993;Amsterdamska 2005); the production of boundary 'objects' for the discipline (Star and Griesemer 1989;Huyard 2009); and the deployment of claims for legitimacy which alter or maintain the division of labour (Ritchey and Raney 1981;Norris 2001;Martin et al 2009). The concept of boundaries is used in the current volume to examine the discipline as a site of social action.…”

O (nie)naturalności jedzenia. Pokarmy i technologie biomedyczne w chorobach metabolicznych

“…Termin ten ukuł w 1909 roku Archibald Garrod po to, aby scharakteryzować "grupę schorzeń, które »najwyraźniej wynikają z niewydolności [failure] takiego czy innego etapu w serii zmian chemicznych, które składają się na metabolizm«" (Paul, Brosco 2013: 11) Jak pisze socjolożka nauki, Hannah Landecker (Landecker 2013), koncepcja "metabolizmu" została ugruntowana w XIX wieku w rezultacie wspólnych wysiłków z zakresu chemii i fizjologii zwierząt. Badaczka podkreśla, że "wrodzone wady metabolizmu" postrzegano jako choroby "ciał przemysłowych" (Landecker 2013: 496). 5 na 10 000 osób; w Stanach Zjednoczonych nie więcej niż 7,5 na 10 000, a w Japonii nie więcej niż 4 na 10 000 (Huyard 2009). Szacuje się, że choroby rzadkie dotykają od 6 do 8% populacji.…”