Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining

Cakici, Julie A.; Dimmock, David; Caylor, Sara; Gaughran, Mary; Clarke, Christina; Triplett, Cynthia; Clark, Michelle M.; Bloss, Cinnamon S.

doi:10.1016/j.clinthera.2023.06.014

Cited by 4 publications

(4 citation statements)

References 57 publications

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“…genetic dis. 33 70% 30% 30% 1 32 , 70 , 71 , 169 2019, 2020,2023 USA RCT RGS Infants; dis. of unknown etiology; within 96 h of admission 94 19% 24% 10% 11 32 , 70 , 71 , 169 2019, 2020,2023 USA RCT RES Infants; dis.…”

Section: Diagnostic Utility Of Urgsmentioning

confidence: 99%

“… 33 70% 30% 30% 1 32 , 70 , 71 , 169 2019, 2020,2023 USA RCT RGS Infants; dis. of unknown etiology; within 96 h of admission 94 19% 24% 10% 11 32 , 70 , 71 , 169 2019, 2020,2023 USA RCT RES Infants; dis. of unknown etiology; within 96 h of admission 95 20% 20% 18% 11 32 , 70 , 71 , 169 2019, 2020,2023 USA RCT URGS Infants; dis.…”

Section: Diagnostic Utility Of Urgsmentioning

confidence: 99%

“…of unknown etiology; within 96 h of admission 94 19% 24% 10% 11 32 , 70 , 71 , 169 2019, 2020,2023 USA RCT RES Infants; dis. of unknown etiology; within 96 h of admission 95 20% 20% 18% 11 32 , 70 , 71 , 169 2019, 2020,2023 USA RCT URGS Infants; dis. of unknown etiology; within 96 h of admission 24 46% 63% 25% 4.6 73 2021 USA Implem URGS Medicaid infants; unknown etiology; within 1 week of admission 184 40% 32% n.d. 3 74 2021 China Cohort RES Critically ill; 6 days - 15 years; susp.…”

Section: Diagnostic Utility Of Urgsmentioning

confidence: 99%

“…Considerable further comparative studies of AI and manual methods are needed. In summary, however, the use of AI has the potential to improve scalability and standardization of URGS and genome-informed care and to reduce cost, time-to-intervention, and geographic disparities 169 .…”

Section: Increasing Use Of Artificial Intelligence (Ai) In Urgsmentioning

confidence: 99%

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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review

Kingsmore,

Nofsinger,

Ellsworth

2024

npj Genom. Med.

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Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, mortality, and healthcare cost. Rapid genome sequencing (RGS), ultra-rapid genome sequencing (URGS), and rapid exome sequencing (RES) are diagnostic tests for genetic diseases for ICU patients. In 44 studies of children in ICUs with diseases of unknown etiology, 37% received a genetic diagnosis, 26% had consequent changes in management, and net healthcare costs were reduced by $14,265 per child tested by URGS, RGS, or RES. URGS outperformed RGS and RES with faster time to diagnosis, and higher rate of diagnosis and clinical utility. Diagnostic and clinical outcomes will improve as methods evolve, costs decrease, and testing is implemented within precision medicine delivery systems attuned to ICU needs. URGS, RGS, and RES are currently performed in <5% of the ~200,000 children likely to benefit annually due to lack of payor coverage, inadequate reimbursement, hospital policies, hospitalist unfamiliarity, under-recognition of possible genetic diseases, and current formatting as tests rather than as a rapid precision medicine delivery system. The gap between actual and optimal outcomes in children in ICUs is currently increasing since expanded use of URGS, RGS, and RES lags growth in those likely to benefit through new therapies. There is sufficient evidence to conclude that URGS, RGS, or RES should be considered in all children with diseases of uncertain etiology at ICU admission. Minimally, diagnostic URGS, RGS, or RES should be ordered early during admissions of critically ill infants and children with suspected genetic diseases.

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