Actions and Uncertainty: How Prenatally Diagnosed Variants of Uncertain Significance Become Actionable

Allison Werner-Lin, Judith L.M. Mccoyd, Barbara A. Bernhardt

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


The development of genomic technologies has seemed almost magical. Excitement about it, both in medicine and among the public, stems from the belief that genomic techniques will illuminate the causes of health and disease, will lead to effective interventions for both rare and common genetic conditions, and will inform reproductive decision-making. Novel diagnostic tools, however, are often deployed before targeted therapies are developed, tested, or available and before their psychosocial implications are explored. Newer technologies such as prenatal whole exome screening are seen as offering “decisional autonomy” to expectant parents, although such technologies identify information about genetic sequencing that may not have clear meaning. The “therapeutic gap” between the ability to conduct genetic sequencing and the ability to fully understand what the test results mean, much less what treatments to offer, leaves families with complex and unclear information they cannot act upon with confidence during pregnancy. In this essay, we will consider the psychosocial and ethical implications of such assumptions—and of the uncertain information produced by these technologies—for individuals and families and for societal aspects such as medical service usage and demographic inequities.

Original languageEnglish (US)
Pages (from-to)S61-S71
JournalHastings Center Report
Issue numberS1
StatePublished - May 1 2019

All Science Journal Classification (ASJC) codes

  • Health(social science)
  • Issues, ethics and legal aspects
  • Philosophy
  • Health Policy


Dive into the research topics of 'Actions and Uncertainty: How Prenatally Diagnosed Variants of Uncertain Significance Become Actionable'. Together they form a unique fingerprint.

Cite this