TY - JOUR
T1 - Making the most of uncertainty
T2 - Treasuring exceptions in prenatal diagnosis
AU - Hogan, Andrew J.
N1 - Funding Information:
I would like to thank Robin Wolfe Scheffler and Stephen T. Casper for their comments on early drafts of this paper, which contributed significantly to its framing and development. I am grateful to those who took the time to be interviewed as part of this project. This research was partially funded by a generous Dissertation Research Fellowship from the University of Pennsylvania .
Publisher Copyright:
© 2016 Elsevier Ltd.
Copyright:
Copyright 2016 Elsevier B.V., All rights reserved.
PY - 2016/6/1
Y1 - 2016/6/1
N2 - Throughout the 20th century, human genetics research was driven by the identification of new variants. As pioneering geneticist William Bateson put it, novel variants were "exceptions" to "treasure". With the rise of human chromosomal analysis in the postwar period, the identification of genetic variants became increasingly significant to clinical and prenatal diagnosis. Human geneticists had long sought a broader sampling of human genetic variation, from a largely "normal" population. The expansion of prenatal diagnosis in the late 20th century offered a new resource for identifying novel genetic variants. In the prenatal diagnostic setting however, many of the exceptions to be treasured were of uncertain clinical significance, which raised anxiety among parents. In the early 1990s, providers reported that specific uncertain results from chorionic villus sampling (CVS) facilitated prenatal diagnoses that were not previously possible. Based on this, some prenatal diagnostic providers began to embrace uncertainty, when properly managed to reduce anxiety, rather than prevent it. The potential to produce uncertainty in prenatal diagnosis grew with whole genome microarray in the 2000s. Rather than outcomes to avoid, or accept as inevitable, providers presented uncertain results as starting points for research to improve the scope prenatal diagnosis, and bring future certainty.
AB - Throughout the 20th century, human genetics research was driven by the identification of new variants. As pioneering geneticist William Bateson put it, novel variants were "exceptions" to "treasure". With the rise of human chromosomal analysis in the postwar period, the identification of genetic variants became increasingly significant to clinical and prenatal diagnosis. Human geneticists had long sought a broader sampling of human genetic variation, from a largely "normal" population. The expansion of prenatal diagnosis in the late 20th century offered a new resource for identifying novel genetic variants. In the prenatal diagnostic setting however, many of the exceptions to be treasured were of uncertain clinical significance, which raised anxiety among parents. In the early 1990s, providers reported that specific uncertain results from chorionic villus sampling (CVS) facilitated prenatal diagnoses that were not previously possible. Based on this, some prenatal diagnostic providers began to embrace uncertainty, when properly managed to reduce anxiety, rather than prevent it. The potential to produce uncertainty in prenatal diagnosis grew with whole genome microarray in the 2000s. Rather than outcomes to avoid, or accept as inevitable, providers presented uncertain results as starting points for research to improve the scope prenatal diagnosis, and bring future certainty.
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U2 - 10.1016/j.shpsc.2016.02.020
DO - 10.1016/j.shpsc.2016.02.020
M3 - Article
C2 - 27010571
AN - SCOPUS:84961205228
VL - 57
SP - 24
EP - 33
JO - Studies in History and Philosophy of Science Part C :Studies in History and Philosophy of Biological and Biomedical Sciences
JF - Studies in History and Philosophy of Science Part C :Studies in History and Philosophy of Biological and Biomedical Sciences
SN - 1369-8486
ER -