Update on brain MRI for the diagnosis and follow-up of MS patients

Over the past decades, MRI has become a major tool in the diagnosis and the follow-up of patients with multiple sclerosis (MS), especially for monitoring the effectiveness of therapy. The recent international recommendations issued for the standardization of neurological and radiological clinical practices converge on many points. In this setting, recommendations made by the “Observatoire français de la sclérose en plaques”, the French MS registry, can be distinguished by its interdisciplinary complementarity, its longevity, its size, and its positions in direct connection with the clinic. Hence, after suspicions of gadolinium deposition in the brain, with multiple warning from the American and European health authorities, a national consultation took place and resulted in limitation to useful injections. The precautionary principle prevailing, the patient receives a limited quantity of contrast product even if no clinically harmful manifestation has been detected to date. The result of this round table bringing together neurologists and neuroradiologists from specialized centers was published in the form of a recommendation in early 2020. The interest of this project also lies in the constant improvement of the management of patients with MS and the possibility of developing advanced techniques to assist the clinician. The aim of this review is to explain to the neurologist, the interest of following this imaging protocol both in his/her clinical practice and in the possibilities that this opens up.     

The complexity of diagnosing rare disease: An organizing framework for outcomes research and health economics based on real-world evidence

PurposeTo facilitate robust economic analyses of clinical exome and genome sequencing, this study was taken up with the objective of establishing a framework for organizing diagnostic testing trajectories for patients with rare disease.MethodsWe collected diagnostic investigations–related data before exome sequencing from the medical records of 228 cases. Medical geneticist experts participated in a consensus building process to develop the SOLVE Framework for organizing the complex range of observed tests. Experts categorized tests as indicator or nonindicator tests on the basis of their specificity for diagnosing rare diseases. Face validity was assessed using case vignettes.ResultsMost cases had symptom onset at birth (42.5%) or during childhood (43.4%) and had intellectual disability (73.3%). On average, the time spent seeking a diagnosis before sequencing was 1989 days (SD = 2137) and included 16 tests (SD = 14). Agreement across experts on test categories ranged from 83% to 96%. The SOLVE Framework comprised observed tests, including 186 indicator and 39 nonindicator tests across cytogenetic/molecular, biochemical, imaging, electrical, and pathology test categories.ConclusionReal-world diagnostic testing data can be ascertained and organized to reflect the complexity of the journey of the patients with rare diseases. SOLVE Framework will improve the accuracy and certainty associated with value-based assessments of genomic sequencing.