TY - JOUR
T1 - Family and population strategies for screening and counselling of inherited cardiac arrhythmias
AU - van Langen, I. M.
AU - Hofman, N.
AU - Tan, H. L.
AU - Wilde, A. A. M.
PY - 2004
Y1 - 2004
N2 - Family screening in inherited cardiac arrhythmias has been performed in The Netherlands since 1996. when diagnostic DNA testing in long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) became technically possible. In multidisciplinary outpatient academic clinics, an adjusted protocol for genetic counselling, originally derived from predictive testing in Huntington's disease, is being used. 1110 Individuals, including 842 relatives of index patients, were informed about their risks, and most were tested molecularly and/or clinically for carriership of the disease present in their family. Of 345 relatives who were referred for cardiologic follow-up, 189 are being treated, because of an increased risk of life-threatening arrhythmias. Evaluation of the psychological and social consequences of family screening for inherited arrhythmias can be performed by using the adapted criteria of Wilson and Jungner, i.e., from a point of view of public health. Preliminary results of psychological research show that parents of children at risk for LOTS show high levels of distress. Many other aspects have to be evaluated yet, making final conclusions about the feasibility of family screening difficult, particularly in HCM. Clinical guidelines are urgently needed. Population screening by molecular testing, for instance in athletic preparticipation screening, will become possible in the future and has its own prerequisites for success
AB - Family screening in inherited cardiac arrhythmias has been performed in The Netherlands since 1996. when diagnostic DNA testing in long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) became technically possible. In multidisciplinary outpatient academic clinics, an adjusted protocol for genetic counselling, originally derived from predictive testing in Huntington's disease, is being used. 1110 Individuals, including 842 relatives of index patients, were informed about their risks, and most were tested molecularly and/or clinically for carriership of the disease present in their family. Of 345 relatives who were referred for cardiologic follow-up, 189 are being treated, because of an increased risk of life-threatening arrhythmias. Evaluation of the psychological and social consequences of family screening for inherited arrhythmias can be performed by using the adapted criteria of Wilson and Jungner, i.e., from a point of view of public health. Preliminary results of psychological research show that parents of children at risk for LOTS show high levels of distress. Many other aspects have to be evaluated yet, making final conclusions about the feasibility of family screening difficult, particularly in HCM. Clinical guidelines are urgently needed. Population screening by molecular testing, for instance in athletic preparticipation screening, will become possible in the future and has its own prerequisites for success
U2 - https://doi.org/10.1080/17431380410032526
DO - https://doi.org/10.1080/17431380410032526
M3 - Article
C2 - 15176433
SN - 0785-3890
VL - 36
SP - 116
EP - 124
JO - Annals of Medicine
JF - Annals of Medicine
IS - Suppl. 1
ER -