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Practical Implications and Results of Clinical Exome and Genome Order Review at a Pediatric Academic Medical Center 

Health Services and Implementation
  • Primary Categories:
    • Health services and Implementation
  • Secondary Categories:
    • Health services and Implementation
Introduction:
The paradigm of clinical genetic testing in the pediatric setting has shifted dramatically in recent years with usage of Exome (ES) and Genome (GS) sequencing becoming the test preferred over previous front-line tests such as microarray or panel-based sequencing. To steward usage of ES and GS within our institution in a fiscally and scientifically responsible manner, a genomic sequencing review committee (GSRC) was established to evaluate, provide guidance, and optimize usage of these testing strategies.

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Methods:
Membership on the Lurie Children’s Hospital GSRC was comprised of genetic counselors, genomic analysts, laboratory directors and a medical geneticist. Clinical ES/GS cases were reviewed weekly and scored on a scale of 1-5 in two categories: expected diagnostic yield (i.e., the likelihood a patient’s presentation is due to a genetic etiology) and appropriateness of ES/GS (compared to other clinically orderable diagnostic methods). Ordering providers of non-endorsed low scoring cases were not restricted from ordering ES/GS but were contacted with alternate recommendations.

 

Results:
355 ES orders were scored and reviewed from April 2019 to August 2021. The overall average score for expected diagnostic yield was 2.7/5 and the overall average score for perceived appropriateness was 3/5. The overall resulted diagnostic yield was 28% (69/242).



Of the 295 ES cases that were endorsed by the GRSC (83% of ordered ES), the average score for expected diagnostic yield was 2.8/5 and the average score for perceived appropriateness was 3.3/5. Of the endorsed cases that were resulted, the diagnostic yield was 30% (63/213).



17% (60/355) of ES cases reviewed were not endorsed by the GSRC. The average score for expected diagnostic yield was 2/5 and the average score for perceived appropriateness was 1.7/5. Of the non-endorsed cases that were still ordered, the diagnostic yield was 21% (6/29).  45% (27/60) of ES cases not endorsed by the GSRC pursued alternate recommendations in lieu of ES. 



88 GS orders were scored and reviewed from March 2021 to March 2024. The overall average score for expected diagnostic yield was 2.8/5 and the overall average score for perceived appropriateness was 2.9/5. The overall diagnostic yield for GS was 33% (29/88).



Of the 65 GS cases that were endorsed by the GRSC (73% of all GS ordered), the average score for expected diagnostic yield was 2.9/5 and the average score for perceived appropriateness was 3.3/5. Of the endorsed cases that were resulted, the diagnostic yield was 34% (22/65). 



17% (23/88) of GS cases reviewed were not endorsed by the GSRC. The average score for expected diagnostic yield was 2.5/5 and the average score for perceived appropriateness was 1.7/5. Of the non-endorsed cases that were ultimately ordered and resulted, the diagnostic yield was 34% (8/23). Of note, GS review occurred after testing was sent, so alternate recommendations (such as ES vs. GS) were unable to be accepted by providers.



Alternate recommended management pathways included different genetic tests, biochemical analysis, or no testing. Utilizing generic test prices, evaluation of 14 ES/GS positive cases that were ordered counter to GSRC recommendations identified a potential cost savings of $78,800 and GSRC recommendations would not have impacted diagnostic yield. Furthermore, all the GS orders had results that would have been detected by ES or the recommended alternate testing.



 

Conclusion:
Review of data generated by our GSRC for ordering practices related to clinical ES/GS demonstrate that this testing, while consistently ordered appropriately, may benefit from additional guidance particularly as these tests become more common in non-genetic clinical settings. While the price of genomic sequencing tests has decreased significantly since initial launch, cost to patient and institution remain high, suggesting that continuing collaborative oversight and utilization management is beneficial.



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