Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Goranitis, Ilias; Wu, You; Lunke, Sebastian; White, Susan; Tan, Tiong Yang; Yeung, Alison; Hunter, Matthew F.; Martyn, Melissa; Gaff, Clara; Stark, Zornitza

doi:10.1016/j.gim.2022.01.013

Cited by 26 publications

(11 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Project Baby Deer, also discussed above, found that RGS in in NICUs and PICUs of five community hospitals and two children’s hospitals in Michigan was associated with $4,155 savings per child tested 82 . Three studies that evaluated URGS found median net cost savings of $17,243 per child tested 73 , 94 , 95 . Given the increasing per diem costs of care in NICUs and PICUs, it is likely that current cost savings per child tested are greater than these estimates.…”

Section: Cost and Cost Effectiveness Of Urgsmentioning

confidence: 99%

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

Kingsmore,

Nofsinger,

Ellsworth

2024

npj Genom. Med.

View full text Add to dashboard Cite

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.

show abstract

Section: Cost and Cost Effectiveness Of Urgsmentioning

confidence: 99%

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

Kingsmore,

Nofsinger,

Ellsworth

2024

npj Genom. Med.

View full text Add to dashboard Cite

show abstract

“…These analyses can be computationally intensive and time‐consuming, performing complex tasks such as implementing algorithms to align millions of reads to the three billion base pair human reference genome. Due to this complexity, it is unsurprising that processing of a single genome can take ~36 h, even on a large well‐powered compute cluster (Goranitis et al, 2022 ). Choice of software appropriate for the analysis task is key to both accuracy and run time of the pipeline, with a large number of studies published comparing software options (Chen et al, 2019 ; Hatem et al, 2013 ; Kumaran et al, 2019 ; Musich et al, 2021 ).…”

Section: Challenges Surrounding Rapid Genomic Sequencing and Bioinfor...mentioning

confidence: 99%

“…There is now unprecedented evidence to show the clinical utility of this approach and the economic healthcare advantages it offers (see also articles in this series) (Goranitis et al, 2022 ). The advances in this field have been made through technical improvements of the sequencing instruments, the use of improved bioinformatic hardware/software, and through an alignment of the disparate experts who come together in such a healthcare setting to deliver the best care possible for their patients.…”

Section: Introductionmentioning

confidence: 99%

Rapid genome sequencing for pediatrics

et al. 2022

View full text Add to dashboard Cite

The advancements made in next‐generation sequencing (NGS) technology over the past two decades have transformed our understanding of genetic variation in humans and had a profound impact on our ability to diagnose patients with rare genetic diseases. In this review, we discuss the recently developed application of rapid NGS techniques, used to diagnose pediatric patients with suspected rare diseases who are critically ill. We highlight the challenges associated with performing such clinical diagnostics tests in terms of the laboratory infrastructure, bioinformatic analysis pipelines, and the ethical considerations that need to be addressed. We end by looking at what future developments in this field may look like and how they can be used to augment the genetic data to further improve the diagnostic rates for these high‐priority patients.

show abstract

“…Genomic testing can provide significant personal utility to patients and their families, and providing this information to decision makers is key in ensuring that genomic technologies and people experiencing conditions with underlying genetic cause are not disadvantaged in resource allocation decisions [ 15 – 19 ]. While quantitative evidence for the value of genomic testing to patients and the public has started to emerge [ 17 – 20 ], and to inform health economic evaluations [ 21 , 22 ], no evidence yet exists in the context of severe speech disorders. To address this gap, this study aims to elicit preferences and value for genomic testing in severe childhood speech disorders from the perspectives of the Australian public and parents of children experiencing severe speech disorders.…”

Section: Introductionmentioning

confidence: 99%

The value of genomic testing in severe childhood speech disorders

Meng,

Best,

Amor

et al. 2024

Eur J Hum Genet

Self Cite

View full text Add to dashboard Cite

With increasing gene discoveries for severe speech disorders, genomic testing can alter the diagnostic and clinical paradigms, enabling better life outcomes for children and their families. However, evidence on the value of the outcomes generated is lacking, impeding optimal translation into health care. This study aims to estimate the value and uptake of genomic testing for severe childhood speech disorders. A discrete choice experiment was undertaken to elicit preferences for genomic testing from the perspective of the Australian public (n = 951) and parents of children experiencing severe speech disorder (n = 56). Choice attributes associated with genomic testing were identified through focus groups. A Bayesian D-efficient design was used to develop choice scenarios and choice data were analyzed using a panel error component mixed logit model and a latent class model. Statistically significant preferences were identified across all seven attributes. The mean monetary value of the benefits of genomic testing relative to standard diagnostic care in Australia was estimated at AU$7489 (US$5021) and AU$4452 (US$2985) from the perspectives of the Australian public and families with lived experience of severe speech disorders, with a corresponding test uptake of 94.2% and 99.6%. To ensure fair prioritization of genomics, decision-makers need to consider the wide range of risks and benefits associated with genomic information.

show abstract

Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children

Cited by 26 publications

References 25 publications

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

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

Rapid genome sequencing for pediatrics

The value of genomic testing in severe childhood speech disorders

Contact Info

Product

Resources

About