Journal of Genetic Counseling

, Volume 27, Issue 5, pp 1228–1237 | Cite as

Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting

  • Swetha NarayananEmail author
  • Bruce Blumberg
  • Marla L. Clayman
  • Vivian Pan
  • Catherine WicklundEmail author
Original Research


Exome sequencing is a clinical diagnostic test offered primarily for children and adults with suspected genetic conditions. The purpose of this study was to explore issues related to exome sequencing in a reproductive clinical setting. This was a qualitative study using semi-structured interviews. Participants were professionals drawn from four key stakeholder groups—healthcare providers, laboratory/industry, ethics, and government. Transcribed interviews were analyzed for emergent themes. Most participants saw potential clinical utility in offering prenatal exome sequencing for diagnostic purposes as opposed to screening. Participants expressed similar challenges already encountered with using exome sequencing in a pediatric setting, such as difficulty interpreting results and voiced many of the same concerns posed by prenatal testing, such as adequate pretest counseling. While previously reported issues and challenges were mentioned, participants agreed those difficulties are anticipated to be much greater with prenatal exome sequencing because of the scope of testing and the option for pregnancy decision-making. The results of this study help gain a better understanding of the implications of using exome sequencing in a prenatal setting. Development of guidelines is also warranted to aid clinical practice and laboratory standards for reporting prenatal results.


Exome sequencing Prenatal Clinical Qualitative WES 



I would like to acknowledge the Graduate Program in Genetic Counseling and Northwestern University Feinberg School of Medicine-Department of Preventive Medicine for funding this study. This work was conducted in partial fulfillment of the first author’s graduate degree requirement.

Author Contributions

The authors, Swetha Narayanan, MS, CGC; Catherine Wicklund, MS, CGC; Bruce Blumberg, MD; Marla Clayman, PhD, MPH; and Vivian Pan, MS, CGC, all provided thoughtful contributions to this study. Swetha Narayanan contributed to study design, data collection, data analysis, and manuscript writing. Catherine Wicklund aided in interview guide development, participant recruitment, data analysis, and manuscript editing. Bruce Blumberg provided assistance in participant recruitment and interview guide development. Marla Clayman provided expertise in qualitative methods and data analysis strategies. Vivian Pan contributed to interview guide development and manuscript editing.

Compliance with Ethical Standards

Conflict of Interest

Swetha Narayanan, Bruce Blumberg, Marla L Clayman, Vivian Pan, and Catherine Wicklund, declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all participants for being included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.


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Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  1. 1.Division of Medical GeneticsUniversity of Texas Medical BranchGalvestonUSA
  2. 2.Department of GeneticsKaiser PermanenteOaklandUSA
  3. 3.Department of Health Care Research and EvaluationAmerican Institutes for ResearchWashingtonUSA
  4. 4.Division of GeneticsAdvocate Medical GroupPark RidgeUSA
  5. 5.Department of Obstetrics and Gynecology, Feinberg School of MedicineNorthwestern UniversityChicagoUSA

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