The challenge of defining disease.

The philosophical definition of disease based on impairment or limitation of normal function that Boorse ([1][1]) proposed is rejected as being clinically impractical by L. K. F. Temple and co-authors in their Essay “Defining disease in the genomics era” ( Science 's Compass, 3 Aug., p. [807][2]). However, the definition they offer seems too broad and also fraught with its own set of difficulties. Temple et al. write that “disease is a state that places individuals at increased risk of adverse consequences .” According to this definition, activities such as mountain climbing or bungee jumping could be construed as disease states. If we could provide appropriate modifiers for the words “state” and “adverse consequences,” then we would be better poised to begin a more precise definition of disease in the genomics era. Taking the essential elements of Boorse ([1][1]) and Temple et al. , I suggest the following definition: Disease is a genotypic or phenotypic state, often influenced by environmental factors, that places individuals at risk for internally derived adverse consequences. 1. [↵][3]1. M. Humber, 2. R. F. Almeder 1. C. Boorse , in Biomedical Ethics Reviews: What Is disease?, M. Humber, R. F. Almeder, Eds. (Humana, Totowo, NJ, 1997), pp. 7-8. # Response {#article-title-2} Bungee jumping and mountain climbing are activities rather than states and, therefore, would not necessarily be considered diseases. However, no definition of disease will work in all contexts. Risk-taking behaviors may be better dealt with by Clouser et al. 's definition of a malady as “a condition other than rational beliefs or desires, such that [individuals] are incurring, or at a significantly increased risk of incurring, a harm or evil (death, disability, loss of freedom, or loss of pleasure) in the absence of direct sustaining cause” ([1][4]). One might argue about the rationality of either climbing up or jumping off heights. Furthermore, given the potential genetic explanations for behavioral disorders such as risk-taking behavior ([2][5]), with time, bungee jumping and mountain climbing might be viewed by some as disease manifestations. 1. [↵][6]1. J. M. Humber, 2. R. F. Almeder 1. K. D. Clouser, 2. C. M. Culver, 3. B. Gert , in Biomedical Ethics Reviews: What Is disease?, J. M. Humber, R. F. Almeder, Eds. (Humana, Totawa, NJ, 1997), pp. 173-218. 2. [↵][7]1. D. E. Comings, 2. K. Blum , Prog. Brain Res. 126, 325 (2000). [OpenUrl][8][PubMed][9][Web of Science][10] [1]: #ref-1 [2]: /lookup/doi/10.1126/science.1062938 [3]: #xref-ref-1-1 "View reference 1 in text" [4]: #ref-2 [5]: #ref-3 [6]: #xref-ref-2-1 "View reference 1 in text" [7]: #xref-ref-3-1 "View reference 2 in text" [8]: {openurl}?query=rft.jtitle%253DProgress%2Bin%2Bbrain%2Bresearch%26rft.stitle%253DProg%2BBrain%2BRes%26rft.aulast%253DComings%26rft.auinit1%253DD.%2BE.%26rft.volume%253D126%26rft.spage%253D325%26rft.epage%253D341%26rft.atitle%253DReward%2Bdeficiency%2Bsyndrome%253A%2Bgenetic%2Baspects%2Bof%2Bbehavioral%2Bdisorders.%26rft_id%253Dinfo%253Apmid%252F11105655%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [9]: /lookup/external-ref?access_num=11105655&link_type=MED&atom=%2Fsci%2F293%2F5536%2F1765.atom [10]: /lookup/external-ref?access_num=000169388500020&link_type=ISI