IDEAS home Printed from https://ideas.repec.org/a/eee/socmed/v61y2005i12p2536-2545.html
   My bibliography  Save this article

Ruling in and ruling out: Implications of molecular genetic diagnoses for disease classification

Author

Listed:
  • Miller, Fiona Alice
  • Ahern, Catherine
  • Ogilvie, Jacqueline
  • Giacomini, Mita
  • Schwartz, Lisa

Abstract

We report on a qualitative analysis of interviews with 14 genetic counsellors in Ontario, Canada about the implications of developments in molecular genetic knowledge for disease definition and classification. Genetic counsellors express a restrained set of hopes and expectations about the utility of genetic diagnoses. They identify several limitations faced by available genetic tests, limitations that constrain the significance of genetic information in disease identification and clinical management. Yet they also emphasize the fundamental nature of genetic information, its decisive role in specifying disease causation, and its significance for disease classification. The decisive nature of genetic information means that, in some cases, genetic tests foster change in disease categories. Diseases are redefined by the "ruling in" of atypical cases demonstrating a broader spectrum of clinical effects, or the "ruling out" of typical cases with classic clinical presentations that are better assigned to other (or no) causes. These redefinitions can be profoundly consequential, producing several kinds of uncertainty: What do we call this state of being? How do we manage it clinically? And, what are the social entitlements of individuals in this state? Though limited today, such complex effects can be expected to increase, alongside the growing diagnostic power of molecular genetics.

Suggested Citation

  • 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.
    • Handle: RePEc:eee:socmed:v:61:y:2005:i:12:p:2536-2545
    as

    Download full text from publisher

    File URL: http://www.sciencedirect.com/science/article/pii/S0277-9536(05)00214-5
    Download Restriction: Full text for ScienceDirect subscribers only
    ---><---

    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. Wang, Catharine & Gonzalez, Richard & Merajver, Sofia D., 2004. "Assessment of genetic testing and related counseling services: current research and future directions," Social Science & Medicine, Elsevier, vol. 58(7), pages 1427-1442, April.
    2. 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. 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.
    2. 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.
    3. 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.
    4. Arribas-Ayllon, Michael, 2016. "After geneticization," Social Science & Medicine, Elsevier, vol. 159(C), pages 132-139.
    5. 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.
    6. 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.

    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. 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.
    2. 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.
    3. 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.
    4. Azimatun Noor Aizuddin & Abdul Rahman Ramdzan & Sharifah Azween Syed Omar & Zuria Mahmud & Zarina A. Latiff & Salleh Amat & Keng Wee Teik & Ch’ng Gaik Siew & Haniza Rais & Syed Mohamed Aljunid, 2021. "Genetic Testing for Cancer Risk: Is the Community Willing to Pay for It?," IJERPH, MDPI, vol. 18(16), pages 1-11, August.
    5. Peyron, Christine & Pélissier, Aurore & Béjean, Sophie, 2018. "Preference heterogeneity with respect to whole genome sequencing. A discrete choice experiment among parents of children with rare genetic diseases," Social Science & Medicine, Elsevier, vol. 214(C), pages 125-132.
    6. Albada, Akke & Ausems, Margreet G.E.M. & van Dulmen, Sandra, 2014. "Counselee participation in follow-up breast cancer genetic counselling visits and associations with achievement of the preferred role, cognitive outcomes, risk perception alignment and perceived perso," Social Science & Medicine, Elsevier, vol. 116(C), pages 178-186.
    7. 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.
    8. 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.
    9. Shim, Jae-Mahn & Kim, Jibum, 2020. "Contextualizing geneticization and medical pluralism: How variable institutionalization of traditional, complementary, and alternative medicine (TCAM) conditions effects of genetic beliefs on utilizat," Social Science & Medicine, Elsevier, vol. 267(C).
    10. 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).
    11. 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.
    12. Mette Bergman & Caroline Graff & Maria Eriksdotter & Marja Schuster & Kerstin S. Fugl‐Meyer, 2017. "Overall and domain‐specific life satisfaction when living with familial Alzheimer's disease risk: A quantitative approach," Nursing & Health Sciences, John Wiley & Sons, vol. 19(4), pages 452-458, December.
    13. 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).
    14. 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.
    15. Gail E. Henderson, 2008. "Introducing Social and Ethical Perspectives on Gene—Environment Research," Sociological Methods & Research, , vol. 37(2), pages 251-276, November.
    16. Payne, Katherine & Nicholls, Stuart G. & McAllister, Marion & MacLeod, Rhona & Ellis, Ian & Donnai, Dian & Davies, Linda M., 2007. "Outcome measures for clinical genetics services: A comparison of genetics healthcare professionals and patients' views," Health Policy, Elsevier, vol. 84(1), pages 112-122, November.
    17. 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.
    18. 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.
    19. 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.
    20. Gooding, Holly C. & Organista, Kurt & Burack, Jeffrey & Biesecker, Barbara Bowles, 2006. "Genetic susceptibility testing from a stress and coping perspective," Social Science & Medicine, Elsevier, vol. 62(8), pages 1880-1890, April.

    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:61:y:2005:i:12:p:2536-2545. 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.