Cost-effectiveness analyses of genetic and genomic diagnostic tests

Payne, Katherine; Gavan, Sean P; Wright, Stuart; Thompson, Alexander

doi:10.1038/nrg.2017.108

Cited by 101 publications

(104 citation statements)

References 74 publications

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“…We are living in an exciting time of major technological advancements in genetics. The next‐generation sequencing (NGS) technology has rapidly evolved since the time of human genome project in 2003 with a declining cost of ~US$10 million in 2007 to $1500 in 2015 . NGS commonly refers to a technology of massively parallel sequencing of small fragments of DNA or RNA in a relatively short time .…”

Section: Implications For Orthodonticsmentioning

confidence: 99%

Orthodontics in the era of big data analytics

Allareddy

Venugopalan

Nalliah

et al. 2019

Orthod Craniofacial Res

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Structured Abstract The objective of this report was to provide an overview of the current landscape of big data analytics in the healthcare sector, introduce various approaches of machine learning and discuss potential implications in the field of orthodontics. With the increasing availability of data from various sources, the traditional analytical methods may not be conducive anymore for examining clinical outcomes. Machine‐learning approaches, which are algorithms trained to identify patterns in large data sets, are ideally suited to facilitate data‐driven decision making. The field of orthodontics is particularly ripe for embracing the big data analytics platform to improve decision making in clinical practice. The availability of omics data, state‐of‐the‐art imaging and potential for establishing large clinical data repositories have favourably positioned the specialty of orthodontics to deliver personalized and precision orthodontic care. Specifically, we discuss about next‐generation sequencing, radiomics in the context of CBCT imaging, and how centralized data repositories can enable real‐time data pooling from multiple sources.

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Section: Implications For Orthodonticsmentioning

confidence: 99%

Orthodontics in the era of big data analytics

Allareddy

Venugopalan

Nalliah

et al. 2019

Orthod Craniofacial Res

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“…For example, clinical decisions may be challenging if the cut point for a continuous test result is disputed or if multiple treatment strategies are possible following a particular test result. In practice, therefore, the imperfect implementation [61] of a testing strategy, through clinicians’ prescribing behavior, may contribute to overestimating the net health gain obtained from a precision medicine [20]. …”

Section: The Economic Case: In Practicementioning

confidence: 99%

“…An extensive literature of published economic evaluations of health technologies for precision medicine is developing [11–19] and, in 2016, some 45 systematic reviews on this topic were identified [20]. The specific challenges in designing and conducting economic evaluations of precision medicine have also been described [21–27].…”

Section: Introductionmentioning

confidence: 99%

The economic case for precision medicine

Gavan

Thompson

Payne

2018

Expert Review of Precision Medicine and Drug Development

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Introduction: The advancement of precision medicine into routine clinical practice has been highlighted as an agenda for national and international health care policy. A principle barrier to this advancement is in meeting requirements of the payer or reimbursement agency for health care. This special report aims to explain the economic case for precision medicine, by accounting for the explicit objectives defined by decision-makers responsible for the allocation of limited health care resources. Areas covered: The framework of cost-effectiveness analysis, a method of economic evaluation, is used to describe how precision medicine can, in theory, exploit identifiable patient-level heterogeneity to improve population health outcomes and the relative cost-effectiveness of health care. Four case studies are used to illustrate potential challenges when demonstrating the economic case for a precision medicine in practice. Expert commentary: The economic case for a precision medicine should be considered at an early stage during its research and development phase. Clinical and economic evidence can be generated iteratively and should be in alignment with the objectives and requirements of decision-makers. Programmes of further research, to demonstrate the economic case of a precision medicine, can be prioritized by the extent that they reduce the uncertainty expressed by decision-makers.

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“…We may view each gene as a vector with one component corresponding to each residue mutation in the gene, together with a weight for each component that is given by (1). Therefore, we can find the overlap score measure with the rf − igf weight of each term in g, for a query q;…”

Section: Genome-wide and Disease-specific Applicationmentioning

confidence: 99%

“…Costs associated with genomic investigations continue to reduce [1] while the richness of data generated increases. Globally, the adoption of wide scale genome sequencing implies that all new-born infants may receive screening for pathogenic genetic variants in an asymptomatic stage, pre-emptively [2].…”

Section: Introductionmentioning

confidence: 99%

Predicting the occurrence of variants in RAG1 and RAG2

Lawless

Allen²,

Thaventhiran

et al. 2018

Preprint

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13While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. The greatest hurdle in diagnosis of rare disease is validation for variants of unknown significance. RAG deficiency presents at an early age with a distinct phenotype of combined immunodeficiency with granuloma and/or autoimmunity. Allele frequency of a SNV in the general population is an indicator of the functional or structural importance of a particular amino acid residue. However, rare diseases are often attributable to variants in genes which are highly conserved. Mutation of a conserved residue does not confirm pathogenicity and functional validation must be confirmed to correctly identify a monogenic disorders such as RAG deficiency. We present protein variants in RAG1 and RAG2 which are most likely to be seen clinically as disease-causing. Our method of mutation rate residue fre- *

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Cost-effectiveness analyses of genetic and genomic diagnostic tests

Cited by 101 publications

References 74 publications

Orthodontics in the era of big data analytics

Orthodontics in the era of big data analytics

The economic case for precision medicine

Predicting the occurrence of variants in RAG1 and RAG2

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