IDEAS home Printed from https://ideas.repec.org/a/eee/socmed/v75y2012i9p1633-1641.html
   My bibliography  Save this article

The chromosome 22q11.2 deletion: From the unification of biomedical fields to a new kind of genetic condition

Author

Listed:
  • Navon, Daniel
  • Shwed, Uri

Abstract

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.

Suggested Citation

  • Navon, Daniel & Shwed, Uri, 2012. "The chromosome 22q11.2 deletion: From the unification of biomedical fields to a new kind of genetic condition," Social Science & Medicine, Elsevier, vol. 75(9), pages 1633-1641.
  • Handle: RePEc:eee:socmed:v:75:y:2012:i:9:p:1633-1641
    DOI: 10.1016/j.socscimed.2012.06.023
    as

    Download full text from publisher

    File URL: http://www.sciencedirect.com/science/article/pii/S027795361200531X
    Download Restriction: Full text for ScienceDirect subscribers only

    File URL: https://libkey.io/10.1016/j.socscimed.2012.06.023?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    As the access to this document is restricted, you may want to search for a different version of it.

    References listed on IDEAS

    as
    1. 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.
    2. Erika Check Hayden, 2008. "Biological tools revamp disease classification," Nature, Nature, vol. 453(7196), pages 709-709, June.
    3. Francis S. Collins & Eric D. Green & Alan E. Guttmacher & Mark S. Guyer, 2003. "A vision for the future of genomics research," Nature, Nature, vol. 422(6934), pages 835-847, April.
    Full references (including those not matched with items on IDEAS)

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Dimond, Rebecca & Bartlett, Andrew & Lewis, Jamie, 2015. "What binds biosociality? The collective effervescence of the parent-led conference," Social Science & Medicine, Elsevier, vol. 126(C), pages 1-8.

    Most related items

    These are the items that most often cite the same works as this one and are cited by the same works as this one.
    1. ZHU Chen & MOTOHASHI Kazuyuki, 2022. "Government R&D spending as a driving force of technology convergence," Discussion papers 22030, Research Institute of Economy, Trade and Industry (RIETI).
    2. Sandra Millon Underwood & Aaron G. Buseh & Sheryl T. Kelber & Patricia E. Stevens & Leolia Townsend, 2013. "Enhancing the Participation of African Americans in Health-Related Genetic Research: Findings of a Collaborative Academic and Community-Based Research Study," Nursing Research and Practice, Hindawi, vol. 2013, pages 1-9, December.
    3. Sabatello, Maya & Insel, Beverly J. & Corbeil, Thomas & Link, Bruce G. & Appelbaum, Paul S., 2021. "The double helix at school: Behavioral genetics, disability, and precision education," Social Science & Medicine, Elsevier, vol. 278(C).
    4. Pinar, Candas & Almeling, Rene & Gadarian, Shana Kushner, 2018. "Does genetic risk for common adult diseases influence reproductive plans? Evidence from a national survey experiment in the United States," Social Science & Medicine, Elsevier, vol. 218(C), pages 62-68.
    5. Nchangwi Syntia Munung & Bongani M Mayosi & Jantina de Vries, 2017. "Equity in international health research collaborations in Africa: Perceptions and expectations of African researchers," PLOS ONE, Public Library of Science, vol. 12(10), pages 1-17, October.
    6. Gail E. Henderson, 2008. "Introducing Social and Ethical Perspectives on Gene—Environment Research," Sociological Methods & Research, , vol. 37(2), pages 251-276, November.
    7. Theresa M. Marteau & Scott Roberts & Susan LaRusse & Robert C. Green, 2005. "Predictive Genetic Testing for Alzheimer's Disease: Impact upon Risk Perception," Risk Analysis, John Wiley & Sons, vol. 25(2), pages 397-404, April.
    8. Timothy G Lesnick & Spiridon Papapetropoulos & Deborah C Mash & Jarlath Ffrench-Mullen & Lina Shehadeh & Mariza de Andrade & John R Henley & Walter A Rocca & J Eric Ahlskog & Demetrius M Maraganore, 2007. "A Genomic Pathway Approach to a Complex Disease: Axon Guidance and Parkinson Disease," PLOS Genetics, Public Library of Science, vol. 3(6), pages 1-12, June.
    9. Liang Yulan & Kelemen Arpad, 2016. "Bayesian state space models for dynamic genetic network construction across multiple tissues," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 15(4), pages 273-290, August.
    10. Vailly, Joëlle, 2008. "The expansion of abnormality and the biomedical norm: Neonatal screening, prenatal diagnosis and cystic fibrosis in France," Social Science & Medicine, Elsevier, vol. 66(12), pages 2532-2543, June.
    11. Arribas-Ayllon, Michael, 2016. "After geneticization," Social Science & Medicine, Elsevier, vol. 159(C), pages 132-139.
    12. Cambrosio, Alberto & Keating, Peter & Schlich, Thomas & Weisz, George, 2006. "Regulatory objectivity and the generation and management of evidence in medicine," Social Science & Medicine, Elsevier, vol. 63(1), pages 189-199, July.
    13. Kathleen T. Hickey & Robert R. Sciacca & Mary S. McCarthy, 2013. "Descriptive survey of Summer Genetics Institute nurse graduates in the USA," Nursing & Health Sciences, John Wiley & Sons, vol. 15(1), pages 3-8, March.
    14. Whitmarsh, Ian & Davis, Arlene M. & Skinner, Debra & Bailey, Donald Jr., 2007. "A place for genetic uncertainty: Parents valuing an unknown in the meaning of disease," Social Science & Medicine, Elsevier, vol. 65(6), pages 1082-1093, September.
    15. 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.
    16. Marteau, Theresa M. & Weinman, John, 2006. "Self-regulation and the behavioural response to DNA risk information: A theoretical analysis and framework for future research," Social Science & Medicine, Elsevier, vol. 62(6), pages 1360-1368, March.
    17. O'Doherty, Kieran C. & Burgess, Michael M. & Edwards, Kelly & Gallagher, Richard P. & Hawkins, Alice K. & Kaye, Jane & McCaffrey, Veronica & Winickoff, David E., 2011. "From consent to institutions: Designing adaptive governance for genomic biobanks," Social Science & Medicine, Elsevier, vol. 73(3), pages 367-374, August.
    18. Bennett, Paul & Smith, Susan J., 2007. "Genetics, insurance and participation: How a Citizens' Jury reached its verdict," Social Science & Medicine, Elsevier, vol. 64(12), pages 2487-2498, June.
    19. Will, Catherine M. & Armstrong, David & Marteau, Theresa M., 2010. "Genetic unexceptionalism: Clinician accounts of genetic testing for familial hypercholesterolaemia," Social Science & Medicine, Elsevier, vol. 71(5), pages 910-917, September.

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. 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.

    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 CitEc recognized a bibliographic reference but did not link an item in RePEc 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 RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: Catherine Liu (email available below). General contact details of provider: http://www.elsevier.com/wps/find/journaldescription.cws_home/315/description#description .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.