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Reduced Uptake of Family Screening in Genotype‐Negative Versus Genotype‐Positive Long QT Syndrome
Author(s) -
Hanninen Mikael,
Klein George J.,
Laksman Zachary,
Conacher Susan S.,
Skanes Allan C.,
Yee Raymond,
Gula Lorne J.,
LeongSit Peter,
Manlucu Jaimie,
Krahn Andrew D.
Publication year - 2015
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-014-9776-6
Subject(s) - proband , long qt syndrome , genetic counseling , medicine , genotype , family history , genetic testing , genetics , mutation , qt interval , gene , biology
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.