title: Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease.
abstract: Arrhythmogenic right ventricular cardiomyopathy, a lethal autosomal dominant cause of sudden cardiac death in young people, is prevalent in Newfoundland and Labrador (genetic subtype ARVD5). In the absence of implantable cardioverter defibrillator treatment, death rates are extremely high. Research into arrhythmogenic right ventricular cardiomyopathy (ARVD5) began in the 1980s and the causative gene and mutation were discovered in 2008. The decades of research highlighted major issues associated with the ethical management of genetic information and the translation of research findings to clinical care. We describe these issues and the strategies used in managing them. Effective knowledge transfer of the research information has resulted in systematic clinical and genetic screening coupled with genetic counseling and treatment for at-risk family members. Improved survival for patients has been one clear result of this strategy. Optimal care of families where individuals are at-high risk of inheriting a disease with high morbidity and mortality requires the full integration of both genetic research and clinical genetics programs. Although yet to be fully effected in our setting, our discussion highlights both the ethical necessity as well as some practical barriers in realizing this outcome.
authors.affiliation: Clinical Epidemiology Unit, Memorial University, Newfoundland, Canada. dpullman@mun.ca
authors.forename: Kathy
authors.initials: K
authors.lastname: Hodgkinson
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Dicks
authors.forename: Sean
authors.initials: S
authors.lastname: Connors
authors.forename: Terry-Lynn
authors.initials: TL
authors.lastname: Young
authors.forename: Patrick
authors.initials: P
authors.lastname: Parfrey
authors.forename: Daryl
authors.initials: D
authors.lastname: Pullman
mesh_terms: D000328:Adult; D000368:Aged; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D016757:Death, Sudden, Cardiac / Q000453:epidemiology; D005192:Family Health; D005260:Female; D018703:Founder Effect; D005817:Genetic Counseling / Q000941:ethics / Q000379:methods; D005820:Genetic Testing / Q000941:ethics / Q000379:methods; D005826:Genetics, Medical / Q000941:ethics / Q000379:methods; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D009523:Newfoundland and Labrador / Q000453:epidemiology; D010375:Pedigree; D015995:Prevalence; D012737:Sex Factors; D057170:Translational Research, Biomedical / Q000941:ethics / Q000379:methods
chemical_list: D008565:Membrane Proteins; C528696:TMEM43 protein, human