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Whole Exome Sequencing in the Cardiac Intensive Care Unit (CICU): Characteristics, Diagnostic Rates, Time to Diagnosis, and Impact on Treatment.

Bacon, Victoria (2020) Whole Exome Sequencing in the Cardiac Intensive Care Unit (CICU): Characteristics, Diagnostic Rates, Time to Diagnosis, and Impact on Treatment. Master's Thesis, University of Pittsburgh. (Unpublished)

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Abstract

Identifying the correct diagnosis in the shortest time possible is crucial for the treatment of critically ill patients. Previously, patients underwent step-wise testing, testing a single gene/gene panel at a time. Whole Exome Sequencing (WES) bypasses this process by investigating the entire coding region of the DNA. WES could shorten time to diagnosis, improve care, and decrease costs by reducing the number of tests ordered. Ordering appropriate tests is an important public health aspect of medical genetics. Studies have shown that WES is clinically useful in various settings; this has not yet been determined in the Cardiac Intensive Care Unit (CICU).
This study sought to determine the yield of non-negative results, patient characteristics, and outcomes of WES in CICU patients treated at UPMC’s Children’s Hospital of Pittsburgh (CHP) through a review of electronic medical records of 24 CICU patients who underwent WES. Six patients (25%) had positive results, 2 of which (33%) would not have been detected on a comprehensive cardiovascular panel. Four patients (16.7%) had negative results and 14 (58.3%) had Variant(s) of Unknown Significance (VUS).
The mean time from the initial genetics evaluation to return of results was 119.17 days, with a mean WES processing time of 92.1 days. Thirteen patients (54.2%) had cardiomyopathy, 10 (41.7%) had structural heart defects, and 1 (4.2%) had a channelopathy. Four cardiomyopathy patients (30.8%) were positive, 1 (7.7%) was negative, and 8 (61.5%) had VUS. One patient (10%) with structural heart defect was positive, 3 (30%) were negative, and 6 (60%) had VUS. The patient diagnosed with channelopathy was positive. WES directly impacted management for 13 patients (54.17%) and impacted management for the patient and/or family in 18 cases (75%).
WES may shorten the diagnostic odyssey and improve care. Previous studies have shown WES has a higher non-negative yield in certain settings, bringing to question the utility of WES in the CICU. This study showed WES has high clinical utility in the CICU, leading to changes in management for most patients and/or their relatives. Given the number of VUS requiring interpretation, the use of WES should include medical geneticists and genetic counselors.


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Details

Item Type: University of Pittsburgh ETD
Status: Unpublished
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Bacon, Victoriavab50@pitt.eduvab50
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee CoChairGhaloul-Gonzalez, LinaLina.Gonzalez@chp.edu
Committee CoChairJenkins, LauraLLaura.Jenkins2@chp.edu
Committee MemberDurst, Andreaadurst@pitt.edu
Committee CoChairDiergaarde, Brendadiergaardeb@upmc.edu
Date: 30 July 2020
Date Type: Publication
Defense Date: 14 April 2020
Approval Date: 30 July 2020
Submission Date: 28 March 2020
Access Restriction: 2 year -- Restrict access to University of Pittsburgh for a period of 2 years.
Number of Pages: 97
Institution: University of Pittsburgh
Schools and Programs: Graduate School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: Whole Exome Sequencing; Cardiac Intensive Care; Genetic Counseling
Date Deposited: 30 Jul 2020 17:53
Last Modified: 30 Jul 2020 17:53
URI: http://d-scholarship.pitt.edu/id/eprint/38766

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