Inpatient Genetics Service and Testing Trends: A Retrospective Multi-Institution Analysis (2021-2024)
Clinical Genetics and Therapeutics
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Primary Categories:
- Clinical Genetics
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Secondary Categories:
- Clinical Genetics
Introduction:
The field of clinical genetics has been revolutionized by the rapid improvements in diagnostic genetic testing. The Medical Genetics consult team at the University of Nebraska Medical Center and Children’s Nebraska currently consists of four geneticists, one geneticist with training in metabolic management, two genetic counselors, and one genetics fellow. It serves five hospitals in the Omaha, Nebraska area, caring for diverse patient populations and hospital settings.
Genetic counselors were added to the inpatient genetics team in 2018. Prior to 2019, all genetic testing required prior authorization, limiting access to genetic testing. In 2019, these restrictions were lifted for microarray and cytogenetic tests after discussions with hospital administrations and billing teams. Our team ordered our first clinical rapid exome in July 2021. By the end of 2022, most institutions approved our ordering of rapid exome sequencing for patients with insurance without conducting a formal prior authorization. Overall, these changes and advancements in clinical testing have greatly improved the quality and timeliness of care we provide for our patients and reduced the burden of additional cost considerations for many families.
Methods:
The inpatient genetics consult team recorded every inpatient consult performed since January 2021. Variables included patient demographics, location, unit type, consult indication, testing recommendations, results of any testing performed, and follow-up actions. Test results were divided into positive, negative, or variants of uncertain significance. Preliminary analysis included assessment of consult patterns (location, indication), testing recommendation(s), and test result.
Results:
Preliminary review of data collected from January 1, 2021 through November 8, 2024 identified a total of 1177 genetic consults. The NICU consistently accounted for 60 - 70 % of consults each year, with 50% of all patients being neonates within the first week of life. Only 1% of consults during this time frame involved patients older than 18 years. The most frequent indications for consultation were neonatal presentations of multiple congenital anomalies and congenital heart disease.
Across the study period, 1,039 genetic tests were initiated based on consult recommendations. Diagnostic yield improved annually, with pathogenic results identified in 34% of all patients during this period. Negative or non-diagnostic results accounted for 43%, while VUS rates decreased from 37% in 2021 to 15% in 2024. The proportion of pathogenic diagnoses increased from 27% in 2021 to 33% in 2022 and 37% and 38% in 2023 and 2024, respectively.
Conclusion:
Our findings underscore the critical role of inpatient genetic consultations in patient care, particularly for neonates, but is likely under-utilized across other units. An increase in the diagnostic rate coupled with the reduction of uncertain results are consistent since 2021, likely due to improvement in testing processes, availability of exome trio testing, and variant curation. Additional analyses aim to explore correlations between consult characteristics, evolving test methodologies, and clinical outcomes. Our experience highlights the transformative potential of integrating advanced genetic diagnostics into inpatient care models and reinforces the importance of equitable access to testing for patients, regardless of a preauthorization status.
The field of clinical genetics has been revolutionized by the rapid improvements in diagnostic genetic testing. The Medical Genetics consult team at the University of Nebraska Medical Center and Children’s Nebraska currently consists of four geneticists, one geneticist with training in metabolic management, two genetic counselors, and one genetics fellow. It serves five hospitals in the Omaha, Nebraska area, caring for diverse patient populations and hospital settings.
Genetic counselors were added to the inpatient genetics team in 2018. Prior to 2019, all genetic testing required prior authorization, limiting access to genetic testing. In 2019, these restrictions were lifted for microarray and cytogenetic tests after discussions with hospital administrations and billing teams. Our team ordered our first clinical rapid exome in July 2021. By the end of 2022, most institutions approved our ordering of rapid exome sequencing for patients with insurance without conducting a formal prior authorization. Overall, these changes and advancements in clinical testing have greatly improved the quality and timeliness of care we provide for our patients and reduced the burden of additional cost considerations for many families.
Methods:
The inpatient genetics consult team recorded every inpatient consult performed since January 2021. Variables included patient demographics, location, unit type, consult indication, testing recommendations, results of any testing performed, and follow-up actions. Test results were divided into positive, negative, or variants of uncertain significance. Preliminary analysis included assessment of consult patterns (location, indication), testing recommendation(s), and test result.
Results:
Preliminary review of data collected from January 1, 2021 through November 8, 2024 identified a total of 1177 genetic consults. The NICU consistently accounted for 60 - 70 % of consults each year, with 50% of all patients being neonates within the first week of life. Only 1% of consults during this time frame involved patients older than 18 years. The most frequent indications for consultation were neonatal presentations of multiple congenital anomalies and congenital heart disease.
Across the study period, 1,039 genetic tests were initiated based on consult recommendations. Diagnostic yield improved annually, with pathogenic results identified in 34% of all patients during this period. Negative or non-diagnostic results accounted for 43%, while VUS rates decreased from 37% in 2021 to 15% in 2024. The proportion of pathogenic diagnoses increased from 27% in 2021 to 33% in 2022 and 37% and 38% in 2023 and 2024, respectively.
Conclusion:
Our findings underscore the critical role of inpatient genetic consultations in patient care, particularly for neonates, but is likely under-utilized across other units. An increase in the diagnostic rate coupled with the reduction of uncertain results are consistent since 2021, likely due to improvement in testing processes, availability of exome trio testing, and variant curation. Additional analyses aim to explore correlations between consult characteristics, evolving test methodologies, and clinical outcomes. Our experience highlights the transformative potential of integrating advanced genetic diagnostics into inpatient care models and reinforces the importance of equitable access to testing for patients, regardless of a preauthorization status.