Key result
Genotype-negative status in probands with long QT syndrome was associated with a lower acceptance of family screening compared to genotype-positive status (33% vs 77%, p=0.02).
Why the study?
Does genotype-negative status reduce the uptake of family screening compared to genotype-positive status in families with Long QT Syndrome?
Observational (n=38)
No
Does genotype-negative status reduce the uptake of family screening compared to genotype-positive status in families with Long QT Syndrome?
Families of genotype-negative Long QT syndrome patients have significantly lower uptake of cascade screening compared to genotype-positive families, despite having a similar clinical yield.
May warrant targeted counseling to address barriers in genotype-negative LQTS families; leaves open whether interventions improve cascade screening rates.
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.
No takes yet. Share an insight, caveat, or question.
Hanninen et al. (2014) conducted an observational in Long QT Syndrome (n=38). Genotype-negative status vs. Genotype-positive status was evaluated on Acceptance of family screening (p=0.02). Genotype-negative status in probands with long QT syndrome was associated with a lower acceptance of family screening compared to genotype-positive status (33% vs 77%, p=0.02).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:
More from Journal of Genetic Counseling