The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit

Llorian, Elisabet Rodríguez; Campbell, Teresa; Candido, Tara; Christilaw, Jan; Dragojlovic, Nick; Souich, Christèle du; Elliott, Alison M; Evans, Daniel M.; Farrer, Matthew J.; Friedman, Jan M.; Guella, Ilaria; Lehman, Anna; Lynd, Larry D.; Osiovich, Horacio; Tooman, Leah

doi:10.1016/j.gim.2022.04.014

Cited by 6 publications

(10 citation statements)

References 33 publications

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“…From a health system perspective, the association of genomic sequencing with length of stay in costly neonatal intensive care units and with downstream health care utilization have been important considerations for short-term economic value. 4 Associations of expected longer-term effects of genomic medicine with quality-adjusted life-years among critically ill infants have been modeled. 5 Although there are numerous methodological challenges associated with conducting such analyses, evaluation of effects on length of stay and quality-adjusted life-years is not necessarily inconsistent with the goal of genomic medicine, as Callahan and colleagues 1 imply, even if consideration of these outcomes is not what drives clinicians' decisions about patient care.…”

Section: + Related Articlementioning

confidence: 99%

Section: Utility According To Whom?mentioning

confidence: 99%

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Genomic Medicine’s Critical Outcome Measure—Utility

Smith

2022

JAMA Netw Open

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Discussions about outcomes of genomic medicine center on the construct of utility. Callahan et al 1 reported findings from a systematic review of the literature on genomic medicine, which they define as genome or exome sequencing and associated care, for critically ill infants. Through a careful dissection of the ways in which genomic medicine utility has been prospectively measured, the review provides insight into how investigators have conceptualized and assessed utility in a specific, policy-relevant clinical context. Callahan and colleagues 1 found that nearly all the prospective studies included in their review reported evidence on utility according to their classification categories, indicating widespread acknowledgment of the importance of the outcome. However, they found considerable heterogeneity in terminology, domains measured, reporting transparency, and approaches to data collection among 21 included studies, indicating a lack of consensus on utility assessment in genomic medicine.

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Section: + Related Articlementioning

confidence: 99%

Section: Utility According To Whom?mentioning

confidence: 99%

Genomic Medicine’s Critical Outcome Measure—Utility

Smith

2022

JAMA Netw Open

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“…54 For decades, NICUs have utilized genetic testing in patients with genetic conditions to detect or confirm clinical diagnosis 55 and recent studies have highlighted the diagnostic utility of rapid sequencing in NICUs in critically ill infants. 1,2,26,27,28,[30][31][32][33][34][35][37][38][39]41,42,[46][47][48][49][50]56 Infants admitted to NICUs have conditions including, but not limited to, preterm birth, low birth weight, infection, asphyxia, congenital malformations requiring surgery, with genetic disorders being highly represented. 57 Genetic disorders, which include chromosomal abnormalities, congenital malformations, and deformations, result in 20% of total infant deaths and are attributed to the leading cause of infant mortality.…”

Section: Introductionmentioning

confidence: 99%

“…Since then, there have been notable additions of different types of genomic tests, including targeted multi‐gene panels and genome‐wide sequencing (GWS) 1,2,5,6 . Rapid genome/exome sequencing (rGS/rES) in particular, has resulted in increased diagnostic rates and immediate changes in management of genetic disorders in the NICU and PICU 2,7–50 and has been recently reviewed 5 …”

Section: Introductionmentioning

confidence: 99%

“…While genetic counselling is recommended for patients and families/surrogate decision‐makers undergoing genetic testing, in particular for genome‐wide sequencing (GWS), there are limited studies regarding gaps in genetic counselling considerations with genetic/genomic testing in NICUs and PICUs 54 . For decades, NICUs have utilized genetic testing in patients with genetic conditions to detect or confirm clinical diagnosis 55 and recent studies have highlighted the diagnostic utility of rapid sequencing in NICUs in critically ill infants 1,2,26,27,28,30–35,37–39,41,42,46–50,56 . Infants admitted to NICUs have conditions including, but not limited to, preterm birth, low birth weight, infection, asphyxia, congenital malformations requiring surgery, with genetic disorders being highly represented 57 .…”

Section: Introductionmentioning

confidence: 99%

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Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Kim,

Pistawka,

Langlois

et al. 2023

Clinical Genetics

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Genetic and genomic technologies can effectively diagnose numerous genetic disorders. Patients benefit when genetic counselling accompanies genetic testing and international guidelines recommend pre‐ and post‐test genetic counselling with genome‐wide sequencing. However, there is a gap in knowledge regarding the unique genetic counselling considerations with different types of genetic testing in the Neonatal Intensive Care Unit (NICU) and the Pediatric Intensive Care Unit (PICU). This scoping review was conducted to identify the gaps in care with respect to genetic counselling for infants/pediatric patients undergoing genetic and genomic testing in NICUs and PICUs and understand areas in need of improvement in order to optimize clinical care for patients, caregivers, and healthcare providers. Five databases (MEDLINE [Ovid], Embase [Ovid], PsycINFO [Ebsco], CENTRAL [Ovid], and CINHAL [Ebsco]) and grey literature were searched. A total of 170 studies were included and used for data extraction and analysis. This scoping review includes descriptive analysis, followed by a narrative account of the extracted data. Results were divided into three groups: pre‐test, post‐test, and comprehensive (both pre‐ and post‐test) genetic counselling considerations based on indication for testing. More studies were conducted in the NICU than the PICU. Comprehensive genetic counselling was discussed in only 31% of all the included studies demonstrating the need for both pre‐test and post‐test genetic counselling for different clinical indications in addition to the need to account for different cultural aspects based on ethnicity and geographic factors.

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Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

Weymann,

Buckell,

Fahr

et al. 2024

JAMA Netw Open

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ImportanceEtiologic diagnoses for rare diseases can involve a diagnostic odyssey, with repeated health care interactions and inconclusive diagnostics. Prior studies reported cost savings associated with genome-wide sequencing (GWS) compared with cytogenetic or molecular testing through rapid genetic diagnosis, but there is limited evidence on whether diagnosis from GWS is associated with reduced health care costs.ObjectiveTo measure changes in health care costs after diagnosis from GWS for Canadian and English children with suspected rare diseases.Design, Setting, and ParticipantsThis cohort study was a quasiexperimental retrospective analysis across 3 distinct English and Canadian cohorts, completed in 2023. Mixed-effects generalized linear regression was used to estimate associations between GWS and costs in the 2 years before and after GWS. Difference-in-differences regression was used to estimate associations of genetic diagnosis and costs. Costs are in 2019 US dollars. GWS was conducted in a research setting (Genomics England 100 000 Genomes Project [100KGP] and Clinical Assessment of the Utility of Sequencing and Evaluation as a Service [CAUSES] Research Clinic) or clinical outpatient setting (publicly reimbursed GWS in British Columbia [BC], Canada). Participants were children with developmental disorders, seizure disorders, or both undergoing GWS between 2014 and 2019. Data were analyzed from April 2021 to September 2023.ExposuresGWS and genetic diagnosis.Main Outcomes and MeasuresAnnual health care costs and diagnostic costs per child.ResultsStudy cohorts included 7775 patients in 100KGP, among whom 788 children had epilepsy (mean [SD] age at GWS, 11.6 [11.1] years; 400 female [50.8%]) and 6987 children had an intellectual disability (mean [SD] age at GWS, 8.2 [8.4] years; 2750 female [39.4%]); 77 patients in CAUSES (mean [SD] age at GWS, 8.5 [4.4] years; 33 female [42.9%]); and 118 publicly reimbursed GWS recipients from BC (mean [SD] age at GWS, 5.5 [5.2] years; 58 female [49.2%]). GWS diagnostic yield was 143 children (18.1%) for those with epilepsy and 1323 children (18.9%) for those with an intellectual disability in 100KGP, 47 children (39.8%) in the BC publicly reimbursed setting, and 42 children (54.5%) in CAUSES. Mean annual per-patient spending over the study period was $5283 (95% CI, $5121-$5427) for epilepsy and $3373 (95% CI, $3322-$3424) for intellectual disability in the 100KGP, $724 (95% CI, $563-$886) in CAUSES, and $1573 (95% CI, $1372-$1773) in the BC reimbursed setting. Receiving a genetic diagnosis from GWS was not associated with changed costs in any cohort.Conclusions and RelevanceIn this study, receiving a genetic diagnosis was not associated with cost savings. This finding suggests that patient benefit and cost-effectiveness should instead drive GWS implementation.

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The effect of rapid exome sequencing on downstream health care utilization for infants with suspected genetic disorders in an intensive care unit

Cited by 6 publications

References 33 publications

Genomic Medicine’s Critical Outcome Measure—Utility

Genomic Medicine’s Critical Outcome Measure—Utility

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

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