Reduced Uptake of Family Screening in Genotype-Negative Versus Genotype-Positive Long QT Syndrome
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| 024 | 7 | 0 | |a 10.1007/s10897-014-9776-6 |2 doi |
| 035 | |a (NATIONALLICENCE)springer-10.1007/s10897-014-9776-6 | ||
| 245 | 0 | 0 | |a Reduced Uptake of Family Screening in Genotype-Negative Versus Genotype-Positive Long QT Syndrome |h [Elektronische Daten] |c [Mikael Hanninen, George Klein, Zachary Laksman, Susan Conacher, Allan Skanes, Raymond Yee, Lorne Gula, Peter Leong-Sit, Jaimie Manlucu, Andrew Krahn] |
| 520 | 3 | |a 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. | |
| 540 | |a National Society of Genetic Counselors, Inc., 2014 | ||
| 690 | 7 | |a Long QT syndrome |2 nationallicence | |
| 690 | 7 | |a Gene negative |2 nationallicence | |
| 690 | 7 | |a Family screening |2 nationallicence | |
| 690 | 7 | |a Cascade screening |2 nationallicence | |
| 700 | 1 | |a Hanninen |D Mikael |u Division of Cardiology, Grey Nuns Hospital, Edmonton, AB, Canada |4 aut | |
| 700 | 1 | |a Klein |D George |u Division of Cardiology, Western University, London, ON, Canada |4 aut | |
| 700 | 1 | |a Laksman |D Zachary |u Division of Cardiology, Western University, London, ON, Canada |4 aut | |
| 700 | 1 | |a Conacher |D Susan |u Division of Cardiology, Western University, London, ON, Canada |4 aut | |
| 700 | 1 | |a Skanes |D Allan |u Division of Cardiology, Western University, London, ON, Canada |4 aut | |
| 700 | 1 | |a Yee |D Raymond |u Division of Cardiology, Western University, London, ON, Canada |4 aut | |
| 700 | 1 | |a Gula |D Lorne |u Division of Cardiology, Western University, London, ON, Canada |4 aut | |
| 700 | 1 | |a Leong-Sit |D Peter |u Division of Cardiology, Western University, London, ON, Canada |4 aut | |
| 700 | 1 | |a Manlucu |D Jaimie |u Division of Cardiology, Western University, London, ON, Canada |4 aut | |
| 700 | 1 | |a Krahn |D Andrew |u Division of Cardiology, University of British Columbia, Vancouver, BC, Canada |4 aut | |
| 773 | 0 | |t Journal of Genetic Counseling |d Springer US; http://www.springer-ny.com |g 24/4(2015-08-01), 558-564 |x 1059-7700 |q 24:4<558 |1 2015 |2 24 |o 10897 | |
| 856 | 4 | 0 | |u https://doi.org/10.1007/s10897-014-9776-6 |q text/html |z Onlinezugriff via DOI |
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| 900 | 7 | |a Metadata rights reserved |b Springer special CC-BY-NC licence |2 nationallicence | |
| 908 | |D 1 |a research-article |2 jats | ||
| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-springer | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1007/s10897-014-9776-6 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Hanninen |D Mikael |u Division of Cardiology, Grey Nuns Hospital, Edmonton, AB, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Klein |D George |u Division of Cardiology, Western University, London, ON, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Laksman |D Zachary |u Division of Cardiology, Western University, London, ON, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Conacher |D Susan |u Division of Cardiology, Western University, London, ON, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Skanes |D Allan |u Division of Cardiology, Western University, London, ON, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Yee |D Raymond |u Division of Cardiology, Western University, London, ON, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Gula |D Lorne |u Division of Cardiology, Western University, London, ON, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Leong-Sit |D Peter |u Division of Cardiology, Western University, London, ON, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Manlucu |D Jaimie |u Division of Cardiology, Western University, London, ON, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Krahn |D Andrew |u Division of Cardiology, University of British Columbia, Vancouver, BC, Canada |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Journal of Genetic Counseling |d Springer US; http://www.springer-ny.com |g 24/4(2015-08-01), 558-564 |x 1059-7700 |q 24:4<558 |1 2015 |2 24 |o 10897 | ||