Table 1 Studies of the diagnostic performance, change in management and outcome, and time to result (TAT) of URGS, RGS and RES in seriously ill children in intensive care units
From: Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Ref. | Year | Country | Study Type | Test | Enrollment Criteria | Study size | Dx Rate | Δ Mx | Δ Outcome | TAT (days) |
|---|---|---|---|---|---|---|---|---|---|---|
2012 | USA | Cases | URGS | NICU infants; Susp. genetic dis. | 4 | 75% | n.d. | n.d. | 2 | |
2015 | USA | Cohort | RGS | <4 months of age; Susp. actionable genetic dis. | 35 | 57% | 31% | 29% | 23 | |
2017 | USA | Cohort | RES | <100 days old; Susp. genetic dis. | 63 | 51% | 37% | 19% | 13 | |
2017 | Holland | Cohort | RGS | Infants; NICU, PICU; Susp. genetic dis. | 23 | 30% | 22% | 22% | 12 | |
2018 | USA | RCT | RGS, SOC | <4 months of age; Susp. genetic dis. | 32 | 41% | 31% | n.d. | 13 | |
2018 | USA | Cohort | RGS | Infants; Susp. genetic dis. | 42 | 43% | 31% | 26% | 23 | |
2018 | Aust | Cohort | RES | Acutely ill children with susp. genetic dis. | 40 | 53% | 30% | 8% | 16 | |
2018 | UK | Cohort | RGS | Children; PICU and Cardiovascular ICU | 24 | 42% | 13% | n.d. | 9 | |
2019 | USA | Cohort | RGS | 4 months-18 years; PICU; Susp. genetic dis. | 38 | 48% | 39% | 8% | 14 | |
2019 | UK | Cohort | RGS | Susp. genetic dis. | 195 | 21% | 13% | n.d. | 21 | |
2019 | USA | Cases | URGS | Infants; ICU; Susp. genetic dis. | 7 | 43% | 43% | n.d. | 0.8 | |
2020 | USA | Cohort | RES | <6 months old; ICU; hypotonia, seizures, metabolic, multiple congenital anomalies | 50 | 58% | 48% | n.d. | 5 | |
2019 | Canada | Cohort | RES | NICU; infants; susp. genetic dis. | 25 | 72% | 60% | n.d. | 7.2 | |
2019 | Taiwan | Cohort | RES | PICU and other; children; susp. genetic dis. | 40 | 53% | 43% | n.d. | 6 | |
2020 | China | Cohort | RES | NICU & PICU; complex | 130 | 48% | 23% | n.d. | 3.8 | |
2020 | USA | Cohort | RES | Critical illness; medical genetics selected | 46 | 43% | 52% | n.d. | 9 | |
2020 | USA | Cohort | RES | PICU; < 6 years; new metabolic/neurologic dis. | 10 | 50% | 30% | n.d. | 9.8 | |
2020 | USA | Cohort | RES | ICU; infants | 368 | 27% | n.d. | n.d. | n.d. | |
2020 | China | Cohort | RES | Infants; ICU and inpatient | 102 | 31% | 27% | n.d. | 11 | |
2020 | USA | Cohort | RES | Various | 41 | 32% | n.d. | n.d. | 7 | |
2020 | Aust | Implem | URES | <18 year; NICU and PICU | 108 | 51% | 44% | n.d. | 3 | |
2020 | Poland | Cohort | RES | Infants; NICU, PICU; susp. genetic dis. | 18 | 83% | 61% | n.d. | 14 | |
2020 | China | Cohort | URES | Infants; NICU, PICU; susp. genetic dis. | 33 | 70% | 30% | 30% | 1 | |
2019, 2020,2023 | USA | RCT | RGS | Infants; dis. of unknown etiology; within 96 h of admission | 94 | 19% | 24% | 10% | 11 | |
2019, 2020,2023 | USA | RCT | RES | Infants; dis. of unknown etiology; within 96 h of admission | 95 | 20% | 20% | 18% | 11 | |
2019, 2020,2023 | USA | RCT | URGS | Infants; dis. of unknown etiology; within 96 h of admission | 24 | 46% | 63% | 25% | 4.6 | |
2021 | USA | Implem | URGS | Medicaid infants; unknown etiology; within 1 week of admission | 184 | 40% | 32% | n.d. | 3 | |
2021 | China | Cohort | RES | Critically ill; 6 days - 15 years; susp. genetic dis. | 40 | 43% | 31% | n.d. | 5 | |
2021 | Germany | Cohort | RES | NICU, PICU, infants; sup. genetic dis. | 61 | 43% | 11% | n.d. | 60 | |
2021 | USA | RTDCT | RGS, WGS | <120 days old; ICU; susp. genetic dis. | 354 | 31% | 25% | n.d. | 15 | |
2021 | China | Crossover | RES | Critically ill infants with susp. genetic heterogeneous dis. | 202 | 20% | n.d. | n.d. | 20 | |
2021 | China | Crossover | RGS | Critically ill infants with susp. genetic heterogeneous disorders | 202 | 37% | 7% | n.d. | 7 | |
2022 | France | Cohort | RGS | Critically ill infants with susp. genetic heterogeneous disorders | 37 | 57% | n.d. | n.d. | 43 | |
2022 | UAE | Cohort | URGS | Infants in ICU with complex multisystem dis. | 5 | 60% | 20% | 20% | 1.5 | |
2022 | USA | Implem | RES | NICU infants with susp. genetic dis. | 80 | 28% | 18% | n.d. | 13 | |
2022 | USA | Cohort | RGS | Children in ICU with dis. of unknown etiology | 65 | 40% | n.d. | n.d. | 12 | |
2022 | France | Cohort | RES | Infants in ICU with susp. genetic dis. | 15 | 40% | 53% | n.d. | 16 | |
2023 | USA | Implem | RGS | NICU, PICU with dis. of unknown etiology | 89 | 39% | 27% | n.d. | n.d. | |
2021, 2023 | USA | Crossover | RGS, panel | NICU with dis. of unknown etiology | 400 | 49% | 19% | n.d. | 6 | |
2023 | USA | Cohort | RGS | Acutely ill inpatient infants; susp. genetic dis. | 188 | 35% | 32% | n.d. | 6 | |
2023 | Belgium | Cohort | URGS | NICU, PICU, neurologic inpatients with susp. genetic dis. | 21 | 57% | 57% | n.d. | 1 | |
Weighted Average | 3609 | 37% | 26% | 18% | n.d. |
