A reply to Anne Kerr

In this reply to Anne Kerr's response to my article, I want to focus on three main themes that arise from her critique of my work: the inclusion, or not, of CBAVD within the CF classification scheme; the expansion of cystic fibrosis (CF) to other conditions; and the value of geneticization as an analytic tool. To be clear, I will not be discussing the size of the sample I used for my work, which is covered in the article itself and builds on the ideas of Greg Myers (1990, 1991). Nor will I be addressing Kerr's claims about the difference between CF classification in the literature and how it is presented in her interviews with CF clinicians and researchers. I make it clear in the article that my work only pertains to how CF is presented in texts. There has long been an accepted discrepancy between what scientists say, and what they write (Collins 1999). Kerr suggests that in my discussion of the relationship between cystic fibrosis and a certain form of male infertility (called CBAVD), I overstate my case, making the links between the two conditions too 'solid'. Rather, she suggests, the expansion of CF to include CBAVD should be seen as a flexible, temporary effect, with the boundaries of CF shifting 'back in' at the end of the 1990s. Aside from interviews with CF clinicians, which I have already pointed out are an unreliable guide to how CF is presented in the literature, Kerr provides very little evidence as to the renewed separation between CF and CBAVD. She claims that the Online Mendelian Inheritance in Man (OMIN) website supports her position, suggesting that by not noting that OMIN summarises at least one form of CBAVD as being caused by a CFTR mutation I have somehow erred. As I state in my article, OMIN cites papers classifying CBAVD as a 'primarily genital form of cystic fibrosis'1, and the same page that Kerr suggests refutes my claims states 'unlike forms of CBAVD accompanied by renal maldevelopment, most cases of CBAVD without renal agenesis are related to CF'. I interpret this as suggesting that, in cases without other clear causes, then CBAVD tends to be related to CF. Despite Kerr's doubts about my claims that such an expansion is uncertain, I am not proposing the entrenched, set-in-stone continuum that she thinks I am. But I do think that it may be too soon to say whether doubts around the relationship between CF and CBAVD have led to clear divisions between these two conditions, or whether CBAVD will continue to be represented as some form of CF for a while to come. While I accept Kerr has limited space in her response to my original article, it would be interesting to know how she views the debates that took place in the late 1990s over the status of another condition 'bordering' CF, chronic pancreatitis. A number of studies have shown higher than expected rates of CFTR mutations in patients with chronic pancreatitis, to the extent that such mutations are a recognised risk factor for the condition. Yet there is significant reluctance to classify such people as suffering from CF. As I make clear, the expansion of the CF continuum into pancreatitis is uncertain. Yet even such a tentative move is not what one would expect if Kerr is indeed correct that the expansion of CF to include CBAVD was temporary, fleeting and the servant of specific scientific discourses. Finally, Kerr is critical of my use of the concept of geneticization to structure my argument; it is too reductive, overstating the impact of molecular knowledge. She is not the first to note this (Condit and Williams 1997: 220) and in my own work I have criticised the way the idea of geneticization has been used (Hedgecoe 1998, 1999). Yet at the same time, using geneticization to structure one's research allows one to pay attention to the concerns of people like the following clinician: The increased frequency of CFTR mutations in diseases other than CF such as CBAVD or idiopathic pancreatitis contributes to the understanding of these entities, but also gives difficulties in nosological demarcations between CF and these disorders and indicates a smooth passage between CF and CFTR related diseases (Witt 2003: ii38). Of course we need to set any changes in CF classification within broader debates about hereditary disease, but to pretend that the representation of CF after the advent of molecular technologies is the same as that before because one is worried about genetic reductionism is to ignore the concerns of clinicians and researchers. Finally, I agree with Kerr that we need to engage with the multiple representations of genetic disease, yet am not sure how we are to do this if some of these representations can be blithely dismissed as 'hype'; who is to decide which representations are worth pursuing

Argument (complex analysis · Aside · Cystic fibrosis · Epistemology · Field (mathematics · Inclusion (mineral · Psychoanalysis · Sociology · Statistics · Value (mathematics · Cystic Fibrosis Research Advances · Gender Studies · Internal Medicine · Mathematics · Medicine · Philosophy · Prenatal Screening and Diagnostics · Psychology · Reproductive Health and Technologies

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