The chromosome 22q11.2 deletion: From the unification of biomedical fields to a new kind of genetic condition
How can genetics reshape nosology? This paper examines the way knowledge about a genetic mutation – the microdeletion at chromosomal locus 22q11.2 – transformed our understanding of several rare clinical syndromes and designated a qualitatively new population of patients. Taking the 1400 papers about the 22q11.2 deletion and the clinical conditions with which it was associated, we generate a network of papers tied by citations for each of the last 35 years. Using a modularity algorithm, we identify communities and evaluate their salience for the networks' overall structure. This analysis, supplemented by historical research and fieldwork with relevant experts and the advocates of affected children conducted during 2011–12, reveals that the 22q11.2 deletion acted as a ‘boundary object’ that unified clinical literatures and led to the emergence of a new kind of medical condition: 22q11.2 Deletion Syndrome (DS). The case of 22q11.2DS extends our understanding of ‘genomic designation’ – the delineation and diagnosis of clinically diffuse conditions according to characteristics of the genome – and demonstrates that observations from genetics can reconfigure existing categories of biomedical research and lead to the emergence of qualitatively new diagnostic categories.
If you experience problems downloading a file, check if you have the proper application to view it first. In case of further problems read the IDEAS help page. Note that these files are not on the IDEAS site. Please be patient as the files may be large.
As the access to this document is restricted, you may want to look for a different version under "Related research" (further below) or search for a different version of it.
Volume (Year): 75 (2012)
Issue (Month): 9 ()
|Contact details of provider:|| Web page: http://www.elsevier.com/wps/find/journaldescription.cws_home/315/description#description|
|Order Information:|| Postal: http://www.elsevier.com/wps/find/supportfaq.cws_home/regional|
References listed on IDEAS
Please report citation or reference errors to , or , if you are the registered author of the cited work, log in to your RePEc Author Service profile, click on "citations" and make appropriate adjustments.:
- Miller, Fiona Alice & Ahern, Catherine & Ogilvie, Jacqueline & Giacomini, Mita & Schwartz, Lisa, 2005. "Ruling in and ruling out: Implications of molecular genetic diagnoses for disease classification," Social Science & Medicine, Elsevier, vol. 61(12), pages 2536-2545, December.
When requesting a correction, please mention this item's handle: RePEc:eee:socmed:v:75:y:2012:i:9:p:1633-1641. See general information about how to correct material in RePEc.
For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: (Zhang, Lei)
If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.
If references are entirely missing, you can add them using this form.
If the full references list an item that is present in RePEc, but the system did not link to it, you can help with this form.
If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your profile, as there may be some citations waiting for confirmation.
Please note that corrections may take a couple of weeks to filter through the various RePEc services.