Narrating uncertainty: Variants of uncertain significance (VUS) in clinical exome sequencing

Abbott, A. (1988) The System of Professions. Chicago: The University of Chicago Press.

Armstrong, D. (2002) Clinical autonomy, individual and collective: The problem of changing doctors’ behaviour. Social Science and Medicine 55: 1771–1777.

Atkinson, P. (1984) Training for certainty. Social Science and Medicine 19: 949–956.

Beckert, J. (1996) What is sociological about economic sociology? Uncertainty and the embeddedness of economic action. Theory and Society 25: 803–840.

Biesecker, L.G. and Green, R.C. (2014) Diagnostic clinical genome and exome sequencing. New England Journal of Medicine 370: 2418–2425.

Bourret, P. (2005) BRCA patients and clinical collectives: New configurations of action in cancer genetics practices. Social Studies of Sciecne 35: 41–68.

Cox, H. and Webster, A. (2013) Translating biomedical science into clinical practice: Molecular diagnostics and the determination of malignancy. Health (London) 17: 391–406.

Duster, T. (1990) Backdoor to Eugenics. New York: Routledge.

Eggington, J.M., Bowles, K.R., Moyes, K., Manley, S., Esterling, L., Sizemore, S., Rosenthal, E., Theisen, A., Saam, J., Arnell, C., Pruss, D., Bennett, J., Burbidge, L.A., Roa, B. and Wenstrup, R.J. (2014) A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes. Clinical Genetics 86: 229–237.

Eyal, G. (2013) For a sociology of expertise: The social origins of the autism epidemic. American Journal of Sociology 118: 863–907.

Green, R.C., Berg, J.S., Grody, W.W., Kalia, S.S., Korf, B.R., Martin, C.L., Mcguire, A.L., Nussbaum, R.L., O’daniel, J.M., Ormond, K.E., Rehm, H.L., Watson, M.S., Williams, M.S. and Biesecker, L.G. (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine 15: 565–574.

Han, P.K., Klein, W.M.P. and Arora, N.K. (2011) Varieties of uncertainty in health care: A conceptual taxonomy. Medical Decision Making 31: 828–838.

Hedgecoe, A.M. (2003) Expansion and uncertainty: Cystic fibrosis, classification and genetics. Sociology of Health and Illness 25: 50–70.

Hughes, E. (1945) 1971 The Sociological Eye: Selected Papers. Chicago: Aldine-Atherton.

Jutel, A. (2009) Sociology of diagnosis: A preliminary review. Sociology of Health and Illness 31: 278–299.

Keller, E.F. (2000) The Century of the Gene. Cambridge, MA: Harvard University Press.

Lampland, M. and Star, S.L. (eds.) (2009) Standards and Their Stories: How Quantifying, Classifying, and Formalizing Practices Shape Everyday Life. Ithaca, NY: Cornell University Press.

Lee, H., Deignan, J.L., Dorrani, N., Strom, S.P., Kantarci, S., Quintero-Rivera, F., Das, K., Toy, T., Harry, B., Yourshaw, M., Fox, M., Fogel, B.L., Martinez-Agosto, J.A., Wong, D.A., Chang, V.Y., Shieh, P.B., Palmer, C.G., Dipple, K.M., Grody, W.W., Vilain, E. and Nelson, S.F. (2014) Clinical exome sequencing for genetic identification of rare mendelian disorders. JAMA 312(18): 1880–1887

Lippman, A. (1991) Prenatal genetic testing and screening: Construcing needs and reinforcing inequalities. American Journal of Law and Medicine 17: 15–50.

Lock, M. (2011) Learning to live again with uncertainty: Social repercussions of molecular genomics. In Maheu, L. and Macdonald, R.A. (eds.) Challenging Genetic Determinism: New Perspectives on the Gene and its Multiple Environments. Montreal: McGill-Queen’s University Press.

Navon, D. (2011) Genomic designation: How genetics can delineate new, phenotypically diffuse medical categories. Social Studies of Science 41: 203–226.

Nelson, N.C., Keating, P. and Cambrosio, A. (2013) On being ‘actionable’: Clinical sequncing and hte emerging contours of a regime of genomic medicine in oncology. New Genetics and Society 32: 405–428.

Novas, C. and Rose, N. (2000) Genetic risk and the birth of the somatic individual. Economy and Society 29: 485–513.

Porter, T. (1996) Trust in Numbers: The Pursuit of Objectivity in Science and Public Life, Princeton: Princeton University Press.

Rabeharisoa, V., Callon, M., Filipe, A.M., Nunes, J.A., Paterson, F. and Vergnaud, F. (2014) From ‘politics of numbers’ to ‘politics of singularisation’: Patients’ activism and engagement in research on rare diseases in France and Portugal. Biosocieties, 9: 194–217.

Radley, D.C., Finkelstein, S.N. and Stafford, R.S. (2006). Off-label prescribing among office-based physicians. Archives of Internal Medicine 166: 1021–1026.

Richards, C.S., Bale, S., Bellissimo, D.B., Das, S., Grody, W.W., Hegde, M.R., Lyon, E. and Ward, B.E. (2008) ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genetics in Medicine 10: 294–300.

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W.W., Hegde, M., Lyon, E., Spector, E., Voelkerding, K. and Rehm, H.L. (2015) Committee ALQA (2015) standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine 17: 405–424.

Sarangi, S. and Clarke, A. (2002) Zones of expertise and the management of uncertainty in genetics risk communication. Research on Language and Social Interaction 35: 139–171.

Shostak, S. (2013) Exposed Science: Genes, the Environment and the Politics of Population Health. Berkeley, CA: University of California Press.

Somers, M.R. (1994) The narrative constitution of identity – A relational and network approach. Theory and Society 23: 605–649.

Tavory, I. and Timmermans, S. (2014) Abductive Analysis: Theorizing Qualitative Research. Chicago: University of Chicago Press.

Timmermans, S. (2015) Trust in standards: Transitioning clinical exome sequencing from bench to bedside. Social Studies of Science 45: 77–99.

Van Zuuren, F.J., Van Schie, E.C. and Van Baaren, N.K. (1997) Uncertainty in the information provided during genetic counseling. Patient Education and Counseling 32: 129–139.