Determining accurate costs for genomic sequencing technologies—a necessary prerequisite

Jegathisawaran, Jathishinie; Tsiplova, Kate; Hayeems, Robin Z.; Ungar, Wendy J.

doi:10.1007/s12687-019-00442-7

Cited by 19 publications

(24 citation statements)

References 6 publications

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“…Costs were intended to reflect trio testing in most cases (although in practice this is not always possible). To inform our parameter estimates, we used the Medicare Clinical Laboratory Fee Schedule, 37 published microcosting studies, 36,37 and publicly available pricing from reference laboratories (see Supplemental Online Appendix). On the basis of consultation with experts and in accordance with other models, we also assumed that GS was used in conjunction with some diagnostic tests typically used in standard care (eg, biochemical, imaging), providing the evidence that leads to the suspicion of a genetic disorder and indicating a need for genetic testing.…”

Section: Costs Of Diagnostic Carementioning

confidence: 99%

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases

Incerti¹,

Xu²,

Chou³

et al. 2022

Genetics in Medicine

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To estimate the cost-effectiveness of genome sequencing (GS) for diagnosing critically ill infants and noncritically ill pediatric patients (children) with suspected rare genetic diseases from a United States health sector perspective. Methods: A decision-analytic model was developed to simulate the diagnostic trajectory of patients. Parameter estimates were derived from a targeted literature review and metaanalysis. The model simulated clinical and economic outcomes associated with 3 diagnostic pathways: (1) standard diagnostic care, (2) GS, and (3) standard diagnostic care followed by GS. Results: For children, costs of GS ($7284) were similar to that of standard care ($7355) and lower than that of standard care followed by GS pathways ($12,030). In critically ill infants, when cost estimates were based on the length of stay in the neonatal intensive care unit, the lowest cost pathway was GS

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Section: Costs Of Diagnostic Carementioning

confidence: 99%

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases

Incerti¹,

Xu²,

Chou³

et al. 2022

Genetics in Medicine

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“…For some technologies, the consideration of cascade health service use may complicate this process because it may not always be possible to separate the cost of implementing a technology for index cases from the cost of cascade testing or screening in family members. An example is trio whole genome sequencing [ 42 ], in which DNA of a pediatric proband and their parents are processed and sequenced together. Results for primary and secondary genetic variants are reported for children and parents, together with a suitable clinical action plan.…”

Section: Discussionmentioning

confidence: 99%

Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges

et al. 2021

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Cascade genetic testing is indicated for family members of individuals testing positive on a genetic test, and is particularly relevant for child health because of their vulnerability and the long-term health and economic implications. Cascade testing has patient- and health system-level implications; however cascade costs and health effects are not routinely considered in economic evaluation. The methodological challenges associated with incorporating cascade effects in economic evaluation require examination. The purpose of this scoping review was to identify published economic evaluations that considered cascade genetic testing. Citation databases were searched for English-language economic evaluations reporting on cascade genetic testing. Nineteen publications were included. In four, genetic testing was used to identify new index patients—cascade effects were also considered; thirteen assessed cascade genetic testing strategies for the identification of at-risk relatives; and two calculated the costs of cascade genetic testing as a secondary objective. Methodological challenges associated with incorporating cascade effects in economic evaluation are related to study design, costing, measurement and valuation of health outcomes, and modeling. As health economic studies may currently be underestimating both the cost and health benefits attributable to genetic technologies through omission of cascade effects, development of methods to address these difficulties is required.

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“…Traditionally, WGS or WES have been the preferred sequencing types for variant calling. WGS has the advantage of allowing for the identification of certain structural variants that are excluded by WES data (discussed below) but has the disadvantage of being more expensive than WES data ( 47 ). RNAseq data is a potential alternative to WGS or WES sequencing as it would allow for variant calling, as well as differential expression analysis and incorporation of mRNA expression data into neoantigen prioritization.…”

Section: Neoantigen Predictionmentioning

confidence: 99%

Cancer Neoantigens: Challenges and Future Directions for Prediction, Prioritization, and Validation

et al. 2022

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Prioritization of immunogenic neoantigens is key to enhancing cancer immunotherapy through the development of personalized vaccines, adoptive T cell therapy, and the prediction of response to immune checkpoint inhibition. Neoantigens are tumor-specific proteins that allow the immune system to recognize and destroy a tumor. Cancer immunotherapies, such as personalized cancer vaccines, adoptive T cell therapy, and immune checkpoint inhibition, rely on an understanding of the patient-specific neoantigen profile in order to guide personalized therapeutic strategies. Genomic approaches to predicting and prioritizing immunogenic neoantigens are rapidly expanding, raising new opportunities to advance these tools and enhance their clinical relevance. Predicting neoantigens requires acquisition of high-quality samples and sequencing data, followed by variant calling and variant annotation. Subsequently, prioritizing which of these neoantigens may elicit a tumor-specific immune response requires application and integration of tools to predict the expression, processing, binding, and recognition potentials of the neoantigen. Finally, improvement of the computational tools is held in constant tension with the availability of datasets with validated immunogenic neoantigens. The goal of this review article is to summarize the current knowledge and limitations in neoantigen prediction, prioritization, and validation and propose future directions that will improve personalized cancer treatment.

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Determining accurate costs for genomic sequencing technologies—a necessary prerequisite

Cited by 19 publications

References 6 publications

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases

Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases

Incorporating Cascade Effects of Genetic Testing in Economic Evaluation: A Scoping Review of Methodological Challenges

Cancer Neoantigens: Challenges and Future Directions for Prediction, Prioritization, and Validation

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