The Ethical Complexity of Using Whole-Exome Sequencing to Detect Adult-Onset Conditions in the Prenatal and Pediatric Settings

  • Jennifer MurphyEmail author
  • Jazmine Gabriel
Conference paper


The clinical relevance of whole-exome sequencing (WES) is unquestionable. In the prenatal setting, the standard testing process of reflexing from karyotype to microarray to single-gene disorders may take several weeks, leaving a family in prolonged turmoil and often without answers in time to make a decision about the pregnancy. WES provides a powerful amount of data more quickly and with a higher yield of diagnostic results, allowing a timelier plan for medical management and decision-making. However, while results that pertain specifically to the testing indication can be isolated, the potential for incidental findings or results that are unrelated to the original testing indication is significant. In 2013, ACMG published recommendations for reporting incidental or secondary findings, providing a list of 57 clinically actionable genes for which reporting should be obligatory. These recommendations were updated in 2015 to include the option to opt out of receiving all secondary findings. The list includes childhood-onset conditions, for which medical management would be immediately impacted. However, the list also includes adult-onset conditions such as hereditary breast and ovarian cancer and Lynch syndrome. Historically, decisions regarding genetic testing for these conditions have been left up to the individual until they reach the age of consent. While the 2015 recommendations are an improvement over the 2013 recommendations insofar as they allow an option to opt out of receiving secondary findings, the recommendations continue to have potentially troubling ethical consequences.


Exome sequencing Prenatal diagnosis Secondary findings Incidental findings Genetic testing Children Pediatric genetic testing Adult-onset conditions Right not to know Right to an open future 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Albany Medical Center, Department of Obstetrics & Gynecology, Division of Maternal Fetal MedicineAlbanyUSA
  2. 2.York Cancer CenterYorkUSA

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