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Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey

Fisher, Rachel

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2015, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: Whole exome sequencing (WES) is a genetic test that sequences all protein-coding regions, exons, in a patient’s genome. WES is used to identify disease causing mutations in patients who present with complex phenotypes. Many patients have had multiple genetic tests (i.e. microarray, single gene, karyotype) or spent significant time searching for a diagnosis, referred to as a patient’s diagnostic odyssey and WES may help to end the search. Diagnostic yield of WES is approximately 25%. WES can also detect secondary findings, which are disease causing mutations unrelated to the patient’s current symptoms, and/or genetic variants in disease associated genes with uncertain clinical significance. This study is a retrospective chart review designed to describe the population and time spent searching for a molecular diagnosis of patients who have had WES testing ordered through Cincinnati Children’s Hospital Medical Center (CCHMC) Methods: Electronic medical records were abstracted for 75 pediatric patients (21 years or younger) during July 1, 2013 – September 30, 2014. The Results Group consists of 34 patients who received their WES results by September 30, 2014. Results: Fifty four patients (72%) in the study population presented with symptoms in infancy and 32 patients (43%) had WES ordered at school age (5-13 years old). Age of onset of symptoms versus age that WES was ordered was significantly different (P<0.0001 using the Wilcoxon signed-rank test). The number of genetic tests ordered prior to ordering WES ranged from 0-12, the average number was 4.3, and the median number was 4.0. In the Results Group, diagnostic yield was 29%, secondary findings were reported for 7 patients (20%) and variants of uncertain significance were reported for 14 patients (41%). Conclusions: The majority of patients in this study presented with symptoms in infancy and had WES at school age, indicating a long diagnostic odyssey prior to receiving WES testing. This timeframe may, in part, be due to lack of availability of earlier WES testing. The information presented in this study supports the use of WES as a possible first line genetic test when diagnosis is unclear.
Kejijan Zhang, M.D. M.B.A. (Committee Chair)
Jessica Connor, M.S. (Committee Member)
Kathleen Collins, M.S. (Committee Member)
Valentina Pilipenko, Ph.D. (Committee Member)
24 p.

Recommended Citations

Citations

  • Fisher, R. (2015). Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813369

    APA Style (7th edition)

  • Fisher, Rachel. Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey. 2015. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813369.

    MLA Style (8th edition)

  • Fisher, Rachel. "Clinical whole exome sequencing in an academic pediatric hospital: A descriptive study of the diagnostic odyssey." Master's thesis, University of Cincinnati, 2015. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1427813369

    Chicago Manual of Style (17th edition)