The Problem of Rarity: Estimation of Prevalence in Rare Disease

Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
Stephane AuvinAlysia Battersby

Abstract

From a disease's first description to its wider recognition, factors such as changes over time in diagnostic criteria, available therapies, and subsequent mortality rates may influence diagnosed prevalence of rare diseases. To propose a novel methodology for estimating the true prevalence of rare diseases using current incidence adjusted to changing diagnostic practice over time. This article focuses on rare diseases whose diagnosis may have changed over time, and raises the hypothesis that prevalence calculated from current incidence may be higher than diagnosed prevalence, which may lag behind the current disease definition and diagnostic methods. A rare epileptic encephalopathy, Dravet syndrome (DS), is explored as an illustrative example. A targeted literature review was performed for DS to identify all reported incidence, prevalence, and mortality and depict how diagnostic practice has evolved over time. A conceptual model was developed to calculate prevalence derived from current incidence figures alone (incidence-derived prevalence) or incidence adjusted with factors that cause a diagnostic drag (diagnostic awareness-adjusted prevalence). We identified sufficient publications of incidence and prevalence to test the conce...Continue Reading

Citations

Mar 14, 2020·Brain : a Journal of Neurology·Javier A López-RiveraDennis Lal
Aug 12, 2020·Clinical Genetics·Montserrat EsquerdaGrup Interdisciplinar En Bioetica
May 21, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wei LiuMonkol Lek
Jul 1, 2020·Orphanet Journal of Rare Diseases·Dariusz Walkowiak, Jan Domaradzki
Sep 5, 2020·Orphanet Journal of Rare Diseases·Carla E M HollakSaco J de Visser
Jun 20, 2020·Molecular Genetics & Genomic Medicine·Evelise BrizolaLuca Sangiorgi
Jul 19, 2019·BMC Pediatrics·Donald B BaileyScott J Zimmerman
May 31, 2019·Orphanet Journal of Rare Diseases·Mohua Chakraborty Choudhury, Gayatri Saberwal
Nov 17, 2019·The Journal of Pediatrics·Paighton C MillerColin K L Phoon

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