Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

BACKGROUND: With the development of next generation sequencing technologies in France, exome sequencing (ES) has recently emerged as an opportunity to improve the diagnosis rate of patients presenting an intellectual disability (ID). To help French policy makers determine an adequate tariff for ES, we aimed to assess the unit cost per ES diagnostic test for ID from the preparation of the pre-analytical step until the report writing step and to identify its main cost drivers. METHODS: A micro-costing bottom-up approach was conducted for the year 2018 in a French setting as part of the DISSEQ study, a cost-effectiveness study funded by the Ministry of Health and performed in collaboration with the GAD (Génétique des Anomalies du Développement), a genetic team from the Dijon University Hospital, and a public sequencing platform, the Centre National de Recherche en Génomique Humaine (CNRGH). The analysis was conducted from the point of view of these two ES stakeholders. All of the resources (labor, equipment, disposables and reagents, reusable material) required to analyze blood samples were identified, collected and valued. Several sensitivity analyses were performed. RESULTS: The unit nominal cost per ES diagnostic test for ID was estimated to be €2,019.39. Labor represented 50.7% of the total cost. The analytical step (from the preparation of libraries to the analysis of sequences) represented 88% of the total cost. Sensitivity analyses suggested that a simultaneous price decrease of 20% for the capture kit and 50% for the sequencing support kit led to an estimation of €1,769 per ES diagnostic test for ID. CONCLUSION: This is the first estimation of ES cost to be done in the French setting of ID diagnosis. The estimation is especially influenced by the price of equipment kits, but more generally by the organization of the centers involved in the different steps of the analysis and the time period in which the study was conducted. This information can now be used to define an adequate tariff and assess the efficiency of ES. TRIAL REGISTRATION: ClinicalTrials.gov identifier NCT03287206 on September 19, 2017.

[Update on the medical treatment of lower urinary tract symptoms (LUTS) in men]. / Actualización en el tratamiento médico de los síntomas del tracto urinario inferior en el varón.

Lower urinary tract symptoms (LUTS) are a frequent cause of consultation in Primary Care, especially in men >40 years of age. Benign prostatic hyperplasia (BPH) has been recognized as the most common cause of bothersome LUTS, causing significant interference with everyday activities and quality of life. The purpose of this study is to provide an update on recent developments regarding the medical management of male LUTS.

[Consensus document on the management and follow-up of the male with lower urinary tract symptoms secondary to benign prostate hyperplasia]. / Documento de consenso sobre pautas de actuación y seguimiento del varón con síntomas del tracto urinario inferior secundarios a hiperplasia prostática benigna.

Benign prostate hyperplasia (BPH) is a high-incidence condition. Its diagnosis and treatment is shared between urologists and Primary Care physicians. Its management uses up a significant amount of resources. The Spanish Society of Primary Care Physicians (SEMERGEN), the Spanish Society of General Practitioners and Family Doctors (SEMG), the Spanish Society of Family and Community Medicine (semFYC), and the Spanish Association of Urology (AEU) have prepared a document on the management and monitoring of BPH, in which the aim is to incorporate the latest evidence in order to update the previously published guidelines, and present them here in condensed form. The main objective of these new recommendations is to raise the awareness of Primary Care physicians and assist them in its diagnostic evaluation, treatment and monitoring, as well as providing unified consensus criteria for referral to the secondary care level.