Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial.
OBJECTIVE
Alzheimer's disease, for which one form of the apolipoprotein E (APOE) genotype is a risk factor, provides a paradigm in which to examine response to susceptibility testing for common, complex diseases. This study's main purposes were to estimate interest in such testing and to examine demographic predictors of study participation.


METHODS
In this 3-site, randomized clinical trial (RCT), the intervention was a risk assessment program wherein genetic counselors educated adult children of AD patients about lifetime risk of disease based on their gender, family history, and APOE genotype. Two groups of participants were followed from initial contact to RCT enrollment: those who were systematically contacted through research registries, and those who were self-referred.


RESULTS
Of 196 systematically contacted participants, 47, or 24%, progressed from initial contact to RCT enrollment. These participants were more likely to be below age 60 (adjusted OR = 3.83, P < 0.01) and college educated (adjusted OR = 3.48, P < 0.01). Of 179 self-referred participants, 115, or 64%, progressed from initial contact to RCT enrollment. Most self-referred participants had a college education and were female (79%).


CONCLUSIONS
In the first RCT to examine genetic susceptibility testing for AD, uptake rates were sufficiently high to merit concern that future test demand may strain available education and counseling resources. Findings suggest that susceptibility testing for AD may be of particular interest to women, college educated persons, and persons below age 60.
Roberts
J Scott
JS
Departments of Neurology and Medicine (Genetics Program), Boston University School of Medicine, 715 Albany Street B-7800, Boston, MA 02118, USA.
Barber
Melissa
M
Brown
Tamsen M
TM
Cupples
L Adrienne
LA
Farrer
Lindsay A
LA
LaRusse
Susan A
SA
Post
Stephen G
SG
Quaid
Kimberly A
KA
Ravdin
Lisa D
LD
Relkin
Norman R
NR
Sadovnick
A Dessa
AD
Whitehouse
Peter J
PJ
Woodard
John L
JL
Green
Robert C
RC
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000175:diagnosis* / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged
D001057:Apolipoproteins E