According to 2014 Report on the State of the Art of Rare Disease Activities in Europe, rare diseases, defined as affecting 0.5 per 1000 people, are primarily “genetic diseases, the others [including] rare cancers, auto-immune diseases, congenital malformations, toxic and infectious diseases…” If genetic diseases are defined as those that can be associated with point mutations in a gene, deletion of a gene, extra or deleted chromosomes, and repeated sequences (wikipedia), then most genetic diseases fit into the rare genetic disease category (see table of incidence as a fraction of life births). At the same time, because rare diseases add up to affecting 6-8% of Europeans in the course of their lives” (2014 Report), it would be valuable to address them better, which means addressing the problems that:
research on rare diseases is not only scarce, but also scattered in different laboratories throughout the EU. The lack of specific health policies for rare diseases and the scarcity of expertise, translate into delayed diagnosis and difficult access to care. This results in additional physical, psychological and intellectual impairments, inadequate or even harmful treatments and loss of confidence in the health care system, despite the fact that some rare diseases are compatible with a normal life if diagnosed on time and properly managed. Misdiagnosis and non-diagnosis are the main hurdles to improving quality of life for thousands of rare disease patients. (2014 Report)
1. In one sense the problems just listed are complications; in another sense they form the readily acknowledged starting point for anyone interested in rare genetic diseases.
2. The genetic diseases listed as more common than 0.5 per 1000, include ones, such as otosclerosis, that are deemed hereditary but with “penetrance and the degree of expression… so highly variable that it may be difficult to detect an inheritance pattern” (wikipedia).
3. Moreover, the same listing omits the most common genetic condition, namely, Down syndrome or Trisomy-21, which occurs in around 1 in 1000 live births (CDC figures).
4. As is widely recognized, the frequency of rare genetic diseases varies widely among populations according to geographic origin, as may be explained if the mutation arose by chance in a small population and was carried down in descendants.
5. The tests to detect genetic diseases are of variable quality, leading to efforts at improvement, such as a project to “develop a model system for assembling, analyzing, disseminating and updating existing data on the safety and effectiveness of DNA-based genetic tests and testing algorithms” (CDC site and more detail).
6. The efforts of well-organized parental advocacy groups may, often by forming alliances with specific medical research teams, secure funding to address the prenatal diagnosis or post-natal treatment of rare debilitating genetic disorders (Panofsky 2011).
7. Once the genetic basis of a condition is identified, there are implications for how the existing group of people with that condition are viewed, as evident in the “Endangered species” t-shirt campaign of the Little People of America (Taussig et al. 2003).
Panofsky, A. (2011). “Generating sociability to drive science: Patient advocacy organizations and genetics research.” Social Studies of Science 41(1): 31–57.
Taussig, S., R. Rapp, D. Heath (2003) “Flexible Eugenics: Technologies of the Self in the Age of Genetics”. In Alan Goodman, Deborah Heath and Susan Lindee, eds. Genetic Nature/ Culture: Anthropology and Science Beyond the Two Culture Divide. Berkeley: University of California Press, 58-76.
(Introduction to this series of posts)