Essays on Science and SocietyGenome-Sequencing Anniversary

Socializing Genetic Diseases

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Science  25 Feb 2011:
Vol. 331, Issue 6020, pp. 1026-1027
DOI: 10.1126/science.1203631

The sequencing of the human genome has been a major scientific adventure of the late 20th and early 21st centuries. It has played a decisive role in the development of biomedicine and has led to numerous partnerships between researchers, clinicians, and the pharmaceutical and biotech industries.

Patient organizations have also been involved in these partnerships from the very beginning. In France, for instance, the French muscular dystrophy organization, the AFM (Association Française Contre les Myopathies), is a classic example. To step up the struggle against neuromuscular diseases, it created its own laboratory, Généthon, which published the first physical maps of the human genome and handed them over to the United Nations Educational, Scientific, and Cultural Organization (UNESCO) in 1993, as a heritage to humanity.


Numerous patient organizations concerned with rare diseases (80% of which are of genetic origin), national alliances, and a European umbrella organization (Eurordis—European Organization on Rare Diseases) have been created and have adopted and adapted this model of partnership with research and health institutions. The “Marche des Maladies Rares” (shown in the photo above) is an annual charity walk organized by the French Alliance on Rare Diseases. This collective mobilization is what led the European Union in 2009 to ask its member states to consider rare diseases a public health issue.

The fact that the complete genome sequences are now available has had effects on patient advocacy. First, from my observations in France, patient organizations have multiplied, notably because many genetic abnormalities (and not only genes) have been discovered. Second, thanks to knowledge derived from the sequencing of the complete genome, patient organizations are confronting the complexity of their diseases in their multiple, heterogeneous, and sometimes singular manifestations. As a consequence, the very definition and contours of the conditions they are concerned with sometimes become strategic elements in their self-descriptions. Third, because the same biological pathways might be involved in different conditions, patient organizations are considering cross-condition research subjects and issues.

What lessons can be learned from patient organizations' active participation in genetic and now genomic research? First and foremost, it has shown lay people's ability to engage in activities that were considered for a long time as the preserve of specialists. Second, patient organizations have made a crucial contribution to the socialization of genetic diseases. Through their involvement in research, they have fostered a strong sense of solidarity with patients whose diseases were, until recently, considered to be shameful defects that excluded them from a common humanity.

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