Assessing the Costs and Cost-Effectiveness of Genomic Sequencing

Christensen, Kurt D.; Dukhovny, Dmitry; Siebert, Uwe; Green, Robert C.

doi:10.3390/jpm5040470

Cited by 98 publications

(90 citation statements)

References 91 publications

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“…The additional time demands on providers to investigate the potential clinical relevance of new findings and to facilitate family communication may be considered a disadvantage of WGS, which, when coupled with potential increased healthcare utilization, could have important downstream economic impact on the healthcare system. 47 However, while more extensive economic analyses of MedSeq Project data are underway, data derived from physician-participant ordering practices following disclosure indicate that WGS results in patients with established cardiomyopathy had limited clinical impact and; therefore, led to few downstream clinical actions.…”

Section: Discussionmentioning

confidence: 99%

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

Cirino

Lakdawala

McDonough

et al. 2017

Circ Cardiovasc Genet

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Background As DNA sequencing costs decline, genetic testing options have expanded. Whole exome and whole genome sequencing (WGS) are entering clinical use, posing questions about their incremental value compared with disease-specific multi-gene panels that have been the cornerstone of genetic testing. Methods and Results Forty-one patients with hypertrophic cardiomyopathy (HCM) who had undergone targeted HCM genetic testing (either multi-gene panel or familial variant test) were recruited into the MedSeq Project, a clinical trial of WGS. Results from panel genetic testing and WGS were compared. In 20 of 41 participants panel genetic testing identified variants classified as pathogenic, likely pathogenic or uncertain significance (VUS). WGS identified 19 of these 20 variants but the variant detection algorithm missed a pathogenic 18-base pair duplication in MYBPC3 due to low coverage. In 3 individuals, WGS identified variants in genes implicated in cardiomyopathy but not included in panel testing: a pathogenic PTPN11 variant and VUSs in ILK and FLNC. WGS also identified 84 secondary findings (mean=2/person, range= 0–6), which mostly defined carrier status for recessive conditions. Conclusions WGS detected nearly all variants identified on panel testing, provided one new diagnostic finding, and allowed interrogation of posited disease genes. Several variants of uncertain clinical utility and numerous secondary genetic findings were also identified. While panel testing and WGS provided similar diagnostic yield, WGS offered the advantage of re-analysis over time to incorporate advances in knowledge, but necessitated expertise in genomic interpretation to appropriately incorporate WGS into clinical care.

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Section: Discussionmentioning

confidence: 99%

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

Cirino

Lakdawala

McDonough

et al. 2017

Circ Cardiovasc Genet

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“…The early results of large-scale studies of clinical utility and cost-effectiveness of genomic sequencing such as the MedSeq Project are encouraging. 40 Finally, turn-around time has rapidly gone down—now routinely 4 weeks at the UCLA center, including sequencing and interpretation, and down to 1 week for exceptional urgent cases—making the use of next-generation sequencing as a first-tier diagnostic test a realistic possibility in DSD care.…”

Section: Genomic Sequencing As a Primary Diagnostic Tool For Disordermentioning

confidence: 99%

Genetics of Disorders of Sex Development

Sandberg¹,

Délot

Fox³

et al. 2017

Endocrinology and Metabolism Clinics of North America

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The Disorders of Sex Development (DSD) Consensus Conference, held in Chicago in 2005, identified several domains of care where improvement was needed.1 In particular, it called for the establishment of an infrastructure for collaborative interdisciplinary clinical practice and research, with the goal of integrating scientific understanding of DSD with real-time standardization and improvement in clinical practice. The DSD-Translational Research Network (DSD-TRN) was created in response, the first such North American infrastructure, a network of 4 (now expanded to 10) research and clinical sites and a central registry, with the collaboration of Accord Alliance, a nonprofit convener of diverse DSD stakeholders. To address the variability within and across medical, surgical, and behavioral health aspects of care, the DSD-TRN is dedicated to the standardization of diagnostic and treatment protocols in order to enhance clinical and scientific discovery, as well as quality of life outcomes for patients and their families. A critical aspect of this standardization of practice is a commitment to an early and comprehensive diagnostic process (including genetic), associated with extensive standardized phenotyping and psychosocial screening and support of patients and families. A recent review of the state of clinical, biochemical, genetic, and psychosocial evaluations of the newborn or adolescent with DSD, 10 years after the consensus statement, continued to highlight the need for a thorough diagnostic process that sets in motion informed discussions with parents (and newly diagnosed adolescent patients) regarding treatment options.2 Developmental pathways of sex determination and differentiation impacted in isolated and syndromic DSD conditions were recently reviewed.3–5 This article will briefly review the main categories of genetic causes of DSD and the diagnostic revolution promised by the advent of new genomic technology, and will present the DSD-TRN guidelines for genetic diagnosis, features of the registry for future research, and a peek into some early registry data.

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“…A previous study noted that researchers need to be “creative” about approaches to evaluating the costs and outcomes of NGS tests. (13) Addressing challenges to conducting economic evaluations can facilitate the ability of researchers to conduct such evaluations as well as increase the clarity and transparency of economic analyses for decision-makers.…”

Section: Introductionmentioning

confidence: 99%

Methodological Issues in Assessing the Economic Value of Next-Generation Sequencing Tests: Many Challenges and Not Enough Solutions

et al. 2018

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Background Clinical use of next-generation sequencing (NGS) tests has been increasing, but few studies have examined their economic value. Several studies have noted that there are methodological challenges to conducting economic evaluations of NGS tests. Objective Our objective was to examine key methodological challenges for conducting economic evaluations of NGS tests, prioritize these challenges for future research, and identify how studies have attempted solutions to address these challenges. Methods We identified challenges for economic evaluations of NGS tests using prior literature and expert judgment of the co-authors. We used a modified Delphi assessment to prioritize challenges, based on importance and probability of resolution. Using a structured literature review and article extraction we then assessed whether published economic evaluations had addressed these challenges. Results We identified 11 challenges for conducting economic evaluations of NGS tests. The experts identified three challenges as the top priorities for future research: complex model structure, timeframe, and type of analysis and comparators used. Of the 15 published studies included in our literature review, four studies described specific solutions relevant to five of the 11 identified challenges. Conclusions Major methodological challenges to economic evaluations of NGS tests remain to be addressed. Our results can be used to guide future research and inform decision-makers on how to prioritize research on the economic assessment of NGS tests

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Assessing the Costs and Cost-Effectiveness of Genomic Sequencing

Cited by 98 publications

References 91 publications

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

Genetics of Disorders of Sex Development

Methodological Issues in Assessing the Economic Value of Next-Generation Sequencing Tests: Many Challenges and Not Enough Solutions

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