title: Reduced Uptake of Family Screening in Genotype-Negative Versus Genotype-Positive Long QT Syndrome.
abstract: The acceptance and yield of family screening in genotype-negative long QT syndrome (LQTS) remains incompletely characterized. In this study of family screening for phenotype-definite Long QT Syndrome (LQTS, Schwartz score ≥3.5), probands at a regional Inherited Cardiac Arrhythmia clinic were reviewed. All LQTS patients were offered education by a qualified genetic counselor, along with materials for family screening including electronic and paper correspondence to provide to family members. Thirty-eight qualifying probands were identified and 20 of these had family members who participated in cascade screening. The acceptance of screening was found to be lower among families without a known pathogenic mutation (33 vs. 77 %, p = 0.02). A total of 52 relatives were screened; fewer relatives were screened per index case when the proband was genotype-negative (1.7 vs. 3.1, p = 0.02). The clinical yield of screening appeared to be similar irrespective of gene testing results (38 vs. 33 %, p = 0.69). Additional efforts to promote family screening among gene-negative long QT families may be warranted.
authors.affiliation: Division of Cardiology, Grey Nuns Hospital, Edmonton, AB, Canada.
authors.forename: Mikael
authors.initials: M
authors.lastname: Hanninen
authors.forename: George J
authors.initials: GJ
authors.lastname: Klein
authors.forename: Zachary
authors.initials: Z
authors.lastname: Laksman
authors.forename: Susan S
authors.initials: SS
authors.lastname: Conacher
authors.forename: Allan C
authors.initials: AC
authors.lastname: Skanes
authors.forename: Raymond
authors.initials: R
authors.lastname: Yee
authors.forename: Lorne J
authors.initials: LJ
authors.lastname: Gula
authors.forename: Peter
authors.initials: P
authors.lastname: Leong-Sit
authors.forename: Jaimie
authors.initials: J
authors.lastname: Manlucu
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Krahn
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005817:Genetic Counseling / Q000523:psychology; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008131:London; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control / Q000523:psychology; D008297:Male; D008875:Middle Aged; D010342:Patient Acceptance of Health Care / Q000523:psychology; D010641:Phenotype