Authors' objectives: The overall objective is dealing with appropriateness and viability to implant DHPLC in clinical care areas to be used as genetic diagnostic tool. For that purpose, current diagnostic uses of DHPLC are further studied addressing its use in BRCA 1, BRCA 2, APC, RET oncogenes and genes related to mitochondrial encephalomyopathies. The analytical and clinical validity of such technique is being assessed; and the possible consequences of its introduction in care areas are being dealt with by guiding these data towards a subsequent economic assessment. The evaluation is consisting in considering incremental cost-effectiveness ratio (ICER) as result measure and in comparing different ICER of strategies to detect variants in the before mentioned genes.

Authors' results and conclusions: Only 61 out of the 286 papers found were selected that met the inclusion criteria. Great variety was observed in the papers not only for diversity in the genes proposed in the present study but also for variety in designs and results. Most of them were transversal studies. A second selection got a total amount of 18 papers that, after being assessed withCASPe guidelines, achieved a score between 7 and 9 (out of 10). Generally speaking, DHPLC sensitivity observed were next to 100%. As regards to the economic assessment, the effectiveness measures used were the number of cases found and the number of effective cases (difference between cases found and cases lost). After extracting costs from literature, the incremental cost-effectiveness ratio (ICER) was considered as result measure. It was observed that ICER reached 278.13€ for the cases found and 139.07€ foreffective cases when comparing DHPLC with sequencing. Sensitivity analysis showed in case the prevalence of the gene mutation samples overpassed 82% for effective cases and 85% for the cases found, the sequencing would be the strategy with the best ICER. However, if lower percentages were the case, DHPLC would maintain the best ICER.

Authors' recommendations: DHPLC shows nowadays a wide range of utilities in the molecular study of a multiplicity of genes, including the analysis for clinical diagnostics. Among others, it is used to detect variants in BRCA 1, BRCA 2, APC, RET oncogenes and genes related to mitochondrial diseases. The possible introduction of DHPLC in clinical labs to screen genetic mutationssequences could influence the decrease in number of samples to which DNA sequencing will be performed.When such screening strategy is raised, there must be taken into account that DNA systematic sequence costs more (ICER: 278.13€) despite being more effective (which is mandatory as it is about the gold-standard).

Authors' methods: Review

Project Status: Completed

URL for project: https://www.aetsa.org/publicacion/cromatografia-liquida-desnaturalizante-de-alto-rendimiento-dhplc-uso-y-utilidad-en-el-genotipado-masivo/

Year Published: 2008

URL for published report: https://www.aetsa.org/download/publicaciones/antiguas/AETSA_2006-07_DHPLC.pdf

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Spain

Organisation Name: Andalusian Health Technology Assessment Area

Contact Address: Area de Evaluacion de Tecnologias Sanitarias Sanitarias de Andalucia (AETSA) Avda. Innovación, s/n Edificio Arena 1. Sevilla (Spain) Tel. +34 955 006 309

Contact Name: aetsa.csalud@juntadeandalucia.es

Contact Email: aetsa.csalud@juntadeandalucia.es

Copyright: Andalusian Agency for Health Technology Assessment (AETSA)