Journal of Genetic Counseling

, Volume 23, Issue 4, pp 588–593 | Cite as

The Ophthalmic Experience: Unanticipated Primary Findings in the Era of Next Generation Sequencing

  • Jillian T. HuangEmail author
  • John R. Heckenlively
  • K. Thiran Jayasundera
  • Kari E. Branham
Next Generation Genetic Counseling


Next generation sequencing (NGS) technology, with the ability to sequence many genomic regions at once, can provide clinicians with increased information, in the form of more mutations detected. Discussions on broad testing technology have largely been focused on incidental findings, or unanticipated results related to diseases beyond the primary indication for testing. By examining multiple genes that could be responsible for the patient’s presentation, however, there is also the possibility of unexpected results that are related to the reason genetic testing was ordered. We present a case study where multiple potentially causative mutations were detected using NGS technology. This case raises questions of scientific uncertainty, and has important implications for medical management and secondary studies. Clinicians and genetic counselors should be aware of the potential for increased information to affect one’s understanding of genetic risk, and the pre- and post-testing counseling process.


Ophthalmology Retinal dystrophy Genetic testing Genetic counseling 



Author Kari Branham receives support by the Foundation Fighting Blindness.


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Copyright information

© National Society of Genetic Counselors, Inc. 2014

Authors and Affiliations

  • Jillian T. Huang
    • 1
    Email author
  • John R. Heckenlively
    • 1
  • K. Thiran Jayasundera
    • 1
  • Kari E. Branham
    • 1
  1. 1.Department of Ophthalmology and Visual Sciences, Kellogg Eye CenterUniversity of MichiganAnn ArborUSA

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