Testing the children: do non-genetic health-care providers differ in their decision to advise genetic presymptomatic testing on minors? A cross-sectional study in five countries in the European Union.
BACKGROUND
Within Europe many guidelines exist regarding the genetic testing of minors. Predictive and presymptomatic genetic testing of minors is recommended for disorders for which medical intervention/preventive measures exist, and for which early detection improves future medical health.


OBJECTIVE
This study, which is part of the larger 5th EU-framework "genetic education" (GenEd) study, aimed to evaluate the self-reported responses of nongenetic health-care providers in five different EU countries (Germany, France, Sweden, the United Kingdom, and the Netherlands) when confronted with a parent requesting presymptomatic testing on a minor child for a treatable disease.


METHODS
A cross-sectional study design using postal, structured scenario-based questionnaires that were sent to 8129 general practitioners (GPs) and pediatricians, between July 2004 and October 2004, addressing self-reported management of a genetic case for which early medical intervention during childhood is beneficial, involving a minor.


RESULTS
Most practitioners agreed on testing the oldest child, aged 12 years (81.5% for GPs and 87.2% for pediatricians), and not testing the youngest child, aged 6 months (72.6% for GPs and 61.3% for pediatricians). After multivariate adjustment there were statistical differences between countries in recommending a genetic test for the child at the age of 8 years. Pediatricians in France (50%) and Germany (58%) would recommend a test, whereas in the United Kingdom (22%), Sweden (30%), and the Netherlands (32%) they would not.


CONCLUSIONS
Even though presymptomatic genetic testing in minors is recommended for disorders for which medical intervention exists, EU physicians are uncertain at what age starting to do so in young children.
Plass
Anne Marie C
AM
Department of Clinical Genetics, Subdivision of Community Genetics, VU University Medical Center, Amsterdam, The Netherlands. amc.plass@vumc.nl
Baars
Marieke J H
MJ
Cornel
Martina C
MC
Julian-Reynier
Claire
C
Nippert
Irmgard
I
Harris
Hillary
H
Kristoffersson
Ulf
U
Schmidtke
Jörg
J
Anionwu
Elizabeth N
EN
Benjamin
Caroline
C
Challen
Kirsty
K
Harris
Rodney
R
ten Kate
Leo P
LP
D002648:Child; D003430:Cross-Sectional Studies; D003625:Data Collection; D005060:Europe; D005062:European Union; D005260:Female; D005602:France; D005820:Genetic Testing; D005826:Genetics, Medical / Q000941:ethics*; D005858:Germany; D006801:Humans; D007223:Infant; D008297:Male; D009426:Netherlands; D010821:Physicians, Family; D011364:Professional Practice; D011795:Surveys and Questionnaires; D013548:Sweden; D006113:United Kingdom