title: The ophthalmic experience: unanticipated primary findings in the era of next generation sequencing.
abstract: 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.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, 1000 Wall St, 7115 Brehm Tower, Ann Arbor, MI, 48105, USA, tietjenj@umich.edu.
authors.forename: Jillian T
authors.initials: JT
authors.lastname: Huang
authors.forename: John R
authors.initials: JR
authors.lastname: Heckenlively
authors.forename: K Thiran
authors.initials: KT
authors.lastname: Jayasundera
authors.forename: Kari E
authors.initials: KE
authors.lastname: Branham
mesh_terms: D005128:Eye Diseases / Q000235:genetics*; D005190:Family; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017421:Sequence Analysis / Q000379:methods*