[State of knowledge: next-generation sequencing (NGS) panels for muscle disease]

Gravel C, Bélanger S
Record ID 32018002288
Original Title: État des connaissances - Panels des maladies musculaires par séquençage de nouvelle génération
Authors' objectives: Requests for authorization of medical laboratory services that are not available in Québec are mainly for high throughput simultaneous sequencing of multiple genes using the so-called next-generation approach. The province’s laboratories have the technology and expertise to perform these tests. With a view to achieving economies of scale and promoting more judicious use of this technology, the Ministère de la Santé et des Services sociaux (MSSS) has undertaken to quickly repatriate several tests performed using next-generation sequencing (NGS), under the governance of the Réseau québécois de diagnostic moléculaire (RQDM). The rollout of this vast project undoubtedly entails opportunities and risks with respect to the overall offer of services and requires reflection along these lines. At MSSS’s request, INESSS is conducting a rapid assessment of the relevance of, the issues surrounding and, when appropriate, the optimal implementation mechanisms for repatriation of these tests, from the overall perspective of Québec’s healthcare system. The present report deals specifically with the analysis of gene panels by NGS for the molecular diagnosis of muscle diseases.
Authors' results and conclusions: RESULTS: Based on the available data, the diagnostic performance of the proposed tests, for a patient population from neurology and genetics outpatient clinics across Canada, would be approximately 22% for the pediatric population and close to 14% for adults. Although treatments are available for some diseases, muscle disease gene panels are used primarily for diagnostic and prognostic purposes. The identification of a genetic cause in severe pediatric cases can also lead to an offer of prenatal diagnosis. Regarding the budget impact analysis, including virtual muscle disease gene panels and other molecular tests of interest in the Répertoire québécois et système de mesure des procédures de biologie médicale could generate savings of close to $600,000 to $1.9 million over three years. Although the sensitivity analyses take variation in the number of tests into account, the volume of tests is not expected to increase significantly over a three-year time horizon. MSSS should take measures to ensure that this is the case. Costs may be involved to offer a level of testing and post-testing service equivalent to that currently offered by laboratories outside Québec. CONCLUSION: The findings and conclusions of this report are based on a rapid review of the scientific and grey literature and on the contextual data and experiential knowledge gathered. The process consisted of a brief risk analysis for guiding MSSS’s decision regarding the repatriation of gene panels for the molecular diagnosis of muscle diseases. In the setting of the present exercise, no major concerns were identified in this regard, and the information gathered supports the appropriateness of repatriating such tests. However, uncertainty regarding the availability of resources and the organization of services surrounding this approach in Québec remains and should be explored to ensure optimal implementation. Also, the conclusions regarding the potential savings should be viewed with caution.
Authors' methods: The process included a rapid review of the scientific and grey literature regarding the clinical and economic aspects, a budget impact analysis, and consultations with Québec experts. Only documents containing syntheses of data or recommendations concerning the use of an NGS test to diagnose muscle diseases were retained. INESSS set up an advisory committee, whose members were invited to express their views on the various issues associated with repatriation of the proposed tests. The final findings are based on the triangulation of the scientific data, the positions of the main learned societies consulted, and the contextual data and experiential knowledge that were gathered.
Project Status: Completed
Year Published: 2022
English language abstract: An English language summary is available
Publication Type: Other
Country: Canada
Province: Quebec
MeSH Terms
  • Genetic Testing
  • High-Throughput Nucleotide Sequencing
  • Molecular Diagnostic Techniques
  • Muscular Diseases
  • Neuromuscular Diseases
  • Costs and Cost Analysis
Organisation Name: Institut national d'excellence en sante et en services sociaux
Contact Address: L'Institut national d'excellence en sante et en services sociaux (INESSS) , 2021, avenue Union, bureau 10.083, Montreal, Quebec, Canada, H3A 2S9;Tel: 1+514-873-2563, Fax: 1+514-873-1369
Contact Name: demande@inesss.qc.ca
Contact Email: demande@inesss.qc.ca
Copyright: Gouvernement du Québec
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.