title: Knowledge and therapeutic gaps: a public health problem in the rare coagulation disorders population.
abstract: Rare coagulation disorders (RCDs) present a considerable and multifaceted public health risk. Although inherited RCDs affect a minor segment of any local healthcare delivery system, their global impact is major and highlight the challenges of delivering healthcare services to any rare disease population. These include but are not limited to: (1) a general lack of knowledge about and familiarity with the genetic and clinical implications of the disorder among affected patients, and both urgent and specialty care providers; (2) the potential for preventable morbidity and mortality related to delayed diagnosis and treatment; (3) the lack of safe and effective therapies; and (4) minimal research activity to establish and improve standards of care. A multiagency national partnership has established an approach to address these problems through development of a clinical, genetic, and treatment-related web-based data-collection tool that will: (1) generate a reliable, sufficient knowledge base for these disorders; (2) facilitate new product licensure through subject identification and access to comparative historical treatment data; and (3) serve as an effective tool for outcomes research and post-licensure product surveillance. To maximize impact, this database is being harmonized with a European data-collection effort. Database development and harmonization is in progress. A resource library was completed and disseminated to major national and international bleeding disorder websites to provide state-of-the-art patient and provider education on each RCD. We believe that this model is effective and adaptable to other rare conditions.
authors.affiliation: Indiana Hemophilia and Thrombosis Center, Indianapolis, Indiana 46260, USA. ashapiro@ihtc.org
authors.forename: Amy D
authors.initials: AD
authors.lastname: Shapiro
authors.forename: J Michael
authors.initials: JM
authors.lastname: Soucie
authors.forename: Flora
authors.initials: F
authors.lastname: Peyvandi
authors.forename: Diane J
authors.initials: DJ
authors.lastname: Aschman
authors.forename: Donna M
authors.initials: DM
authors.lastname: DiMichele
mesh_terms: D001778:Blood Coagulation Disorders / Q000188:drug therapy*; D003299:Cooperative Behavior; D016208:Databases, Factual; D007722:Health Knowledge, Attitudes, Practice; D006282:Health Personnel / Q000193:education*; D006801:Humans; D038622:Internationality; D020407:Internet; D015980:Public Health Practice; D035583:Rare Diseases