Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities

Chrystoja, Caitlin C.; Diamandis, Eleftherios P.

doi:10.1373/clinchem.2013.209213

Cited by 76 publications

(54 citation statements)

References 65 publications

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“…3,[31][32][33][34][35][36][37][38][39][40][41][42] Seven studies presented data on the costs of WES or WGS testing pathways, [24][25][26][27][43][44][45] and eight studies presented data on clinically relevant outcome measures for these tests. 5,6,[8][9][10][46][47][48] Of the eight full economic evaluations, two were CUAs 22,23 and six were CEAs, published between 2014 and 2017 in Australia (2), the United States (1), the UK (1), the Netherlands (1), and Canada (1).…”

Section: Study Characteristicsmentioning

confidence: 99%

“…40,41 Six studies estimated the cost of WGS, four of which used data from commercial sources. 24,26,28,43 Cost estimates ranged from £1,312 ($1,906) for sequencing using the HiSeq X in Germany 26 to £17,243 ($24,810) for an unspecified platform in Canada. 24 Four studies used a transparent bottom-up approach to estimate the cost of WGS.…”

Section: Study Characteristicsmentioning

confidence: 99%

“…24,26,28,43 Cost estimates ranged from £1,312 ($1,906) for sequencing using the HiSeq X in Germany 26 to £17,243 ($24,810) for an unspecified platform in Canada. 24 Four studies used a transparent bottom-up approach to estimate the cost of WGS. 20,21,26,28,45 There was limited evidence of a reduction in the cost of WGS over time, with the lowest estimate declining from £10,497 ($15,146) 43 in 2013 to £1,312 ($1,906) 26 in 2017.…”

Section: Study Characteristicsmentioning

confidence: 99%

See 2 more Smart Citations

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

Schwarze

Buchanan

Taylor

et al. 2018

Genetics in Medicine

419

198

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Purpose: We conducted a systematic literature review to summarize the current health economic evidence for wholeexome sequencing (WES) and whole-genome sequencing (WGS).Methods: Relevant studies were identified in the EMBASE, MEDLINE, Cochrane Library, EconLit and University of York Centre for Reviews and Dissemination databases from January 2005 to July 2016. Publications were included in the review if they were economic evaluations, cost studies, or outcome studies.Results: Thirty-six studies met our inclusion criteria. These publications investigated the use of WES and WGS in a variety of genetic conditions in clinical practice, the most common being neurological or neurodevelopmental disorders. Study sample size varied from a single child to 2,000 patients. Cost estimates for a single test ranged from $555 to $5,169 for WES and from $1,906 to $24,810 for WGS. Few cost analyses presented data transparently and many publications did not state which components were included in cost estimates. Conclusion:The current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Studies that carefully evaluate the costs, effectiveness, and cost-effectiveness of these tests are urgently needed to support their translation into clinical practice.Genet Med advance online publication 15 February 2018

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Section: Study Characteristicsmentioning

confidence: 99%

Section: Study Characteristicsmentioning

confidence: 99%

Section: Study Characteristicsmentioning

confidence: 99%

See 1 more Smart Citation

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

Schwarze

Buchanan

Taylor

et al. 2018

Genetics in Medicine

419

198

View full text Add to dashboard Cite

show abstract

“…The major technical advantage of WGS is that the speciicity is theoretically 100% (average 95-98% in practice, practically without gaps) with a uniform coverage in the regions of interest (ROIs) throughout the input material. Thus, the chance of losing disease-causing variants due to technical errors is much lower with WGS [57][58][59]. The major challenge in applying this tool on a medical routine is the great costs, the complex pipeline for data analysis and data interpretation.…”

Section: Whole-genome and Whole-exome Sequencingmentioning

confidence: 99%

Application of Next-Generation Sequencing in the Era of Precision Medicine

Pereira¹,

Malta²,

Freire³

et al. 2017

Applications of RNA-Seq and Omics Strategies - From Microorganisms to Human Health

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Next-generation sequencing (NGS) technologies represented the next step in the evolution of DNA sequencing, through the generation of thousands to millions of DNA sequences in a short time. The relatively fast emergence and success of NGS in research revolutionized the ield of genomics and medical diagnosis. The traditional medicine model of diagnosis has changed to one precision medicine model, leading to a more accurate diagnosis of human diseases and allowing the selection of molecular target drugs for individual treatment. This chapter atempts to review the main features of NGS technique (concepts, data analysis, applications, advances and challenges), starting with a brief history of DNA sequencing followed by a comprehensive description of most used NGS platforms. Further topics will highlight the application of NGS towards routine practice, including variant detection, whole-exome sequencing (WES), whole-genome sequencing (WGS), custom panels (multi-gene), RNA-seq and epigenetic. The potential use of NGS in precision medicine is vast and a beter knowledge of this technique is necessary for an eicacious implementation in the clinical workplace. A centralized chapter describing the main NGS aspects in the clinic could help beginners, scientists, researchers and health care professionals, as they will be responsible for translating genomic data into genomic medicine.

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“…Substantial upfront investments are furthermore needed for instrumentation, structural changes, education, and training efforts [9,[24][25][26][27].…”

Section: Introductionmentioning

confidence: 99%

Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe

Malentacchi

Mancini

Brandslund

et al. 2015

Clinical Chemistry and Laboratory Medicine (CCLM)

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Developments in "-omics" are creating a paradigm shift in laboratory medicine leading to personalized medicine. This allows the increase in diagnostics and therapeutics focused on individuals rather than populations. In order to investigate whether laboratory medicine is ready to play a key role in the integration of personalized medicine in routine health care and set the state-of-the-art knowledge about personalized medicine and laboratory medicine in Europe, a questionnaire was constructed under the auspices of the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) and the European Society of Pharmacogenomics and Personalised Therapy (ESPT). The answers of the participating laboratory medicine professionals indicate that they are aware that personalized medicine can represent a new and promising health model, and that laboratory medicine should play a key role in supporting the implementation of personalized medicine in the clinical setting. Participants think that the current organization of laboratory medicine needs additional/relevant implementations such as (i) new technological facilities in -omics; (ii) additional training for the current personnel focused on the new methodologies; (iii) incorporation in the laboratory of new competencies in data interpretation and counseling; and (iv) cooperation and collaboration among professionals of different disciplines to integrate information according to a personalized medicine approach.

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Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities

Cited by 76 publications

References 65 publications

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

Application of Next-Generation Sequencing in the Era of Precision Medicine

Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe

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