How disturbing is it to be approached for a genetic cascade screening programme for familial hypercholesterolaemia? Psychological impact and screenees' views.
OBJECTIVE
To assess the screenees' views on, and the psychological impact of, a family-based genetic screening programme for familial hypercholesterolaemia (FH) and to evaluate non-participation.


METHODS
Self-administered questionnaires were filled out at the time of screening and after communication of the test result. Non-participants were interviewed by phone.


RESULTS
Of the people approached for screening, 2% did not participated. These 2% were not interested, had already been clinically diagnosed, or were afraid of insurance consequences. 677 screenees participated, of whom 215 (32%) tested FH positive. Less than 5% of the screenees were critical of the approach and the information provided. 20% of the screenees expressed feelings of social pressure. Effects on mood were minimal to absent, as were general 'quality of life' effects.


CONCLUSIONS
Screening for FH is highly acceptable to screenees, although social pressure is prevalent. Only a small percentage of people being approached did not participate.
van Maarle
M C
MC
Department of Social Medicine, Academic Medical Centre, University of Amsterdam, PO Box 22700, NL-1100 DE Amsterdam (The Netherlands). m.c.vanmaarle@amc.uva.nl
Stouthard
M E A
ME
Marang-van de Mheen
P J
PJ
Klazinga
N S
NS
Bonsel
G J
GJ
D000367:Age Factors; D001290:Attitude; D003142:Communication; D005069:Evaluation Studies as Topic; D005190:Family; D005820:Genetic Testing / Q000458:organization & administration / Q000523:psychology*; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics* / Q000523:psychology*; D009426:Netherlands; D011788:Quality of Life; D013315:Stress, Psychological / Q000523:psychology*; D011795:Surveys and Questionnaires