Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy

Keizer, Richelle A. C. M. Olde; Henneman, Lidewij; Amstel, Hans Kristian Ploos van; Vissers, Lisenka E.L.M.; Frederix, G.W.

doi:10.1080/13696998.2021.2009725

Cited by 2 publications

(3 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…To date, investigations into the clinical and economic value of genomics for diagnosing rare diseases primarily estimate incremental costs per additional diagnosis . While past research indicated that stakeholders value outcomes after diagnosis and that diagnostic yield from GWS can change when sequencing data are reanalyzed, downstream outcomes associated with GWS for patients and health care systems are uncertain.…”

Section: Discussionmentioning

confidence: 99%

“…To date, investigations into the clinical and economic value of genomics for diagnosing rare diseases primarily estimate incremental costs per additional diagnosis. 47 , 48 , 49 While past research indicated that stakeholders value outcomes after diagnosis and that diagnostic yield from GWS can change when sequencing data are reanalyzed, 36 , 50 , 51 , 52 downstream outcomes associated with GWS for patients and health care systems are uncertain. In infants who are critically ill, associations of GWS with use outcomes are mixed, with matched case study analysis showing cost reductions and propensity score–weighted analysis showing no differences compared with non-GWS testing.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

View full text Add to dashboard Cite

show abstract

“…However, despite these enthusiastic future perspectives, the advantages and disadvantages of the new methods and their potential have to be carefully evaluated with respect to both individual and public health issues ( 57 , 58 ).…”

Section: Perspective I: Future Diagnostic Strategiesmentioning

confidence: 99%

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

Kaay¹,

Rochtus

Binder³

et al. 2022

Endocrine Connections

View full text Add to dashboard Cite

The implementation of high-throughput and deep sequencing methods in routine genetic diagnostics has significantly improved the diagnostic yield in patient cohorts with growth disturbances and becomes increasingly important as the prerequisite of personalised medicine. They provide considerable chances to identify even rare and unexpected situations, nevertheless we must be aware of their limitations. A simple genetic test in the beginning of a testing cascade might also help to identify the genetic cause of specific growth disorders. However, the clinical picture of genetically caused growth disturbance phenotypes can vary widely, and there is a broad clinical overlap between different growth disturbance disorders. As a consequence, the clinical diagnosis and therewith connected the decision on the appropriate genetic test is often a challenge. In fact, the clinician asking for genetic testing has to weigh different aspects in this decision process, including appropriateness (single gene test, stepwise procedure, comprehensive testing), turn-around-time as the basis for a rapid intervention, and economic considerations. Therefore, a frequent question in that context is “what to test when”. In this review we aim to review genetic testing strategies and their strengthens and limitations, and to raise awareness for the future implementation of an interdisciplinary genome medicine in diagnoses, treatment and counselling of growth disturbances.

show abstract

Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy

Cited by 2 publications

References 38 publications

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

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

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

Contact Info

Product

Resources

About