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Abstract
Background
There are few empirical data to inform the debate surrounding the use
and regulation of direct-to-consumer (DTC) genome-wide
disease risk tests. This study aimed
to determine the long term psychological, behavioural, and clinical
impacts of genomic
risk testing for common disease.
Methods
The Scripps Genomic Health Initiative is a prospective longitudinal
cohort study of adults who purchased the Navigenics Health
Compass, a commercially available
genomic test. Web based assessments were administered at baseline, short
(3 months), and
long term (1 year) follow-up.
Results
2240 participants completed either or both follow-ups and a subset of
1325 completed long term follow-up. There were no significant
differences from baseline in anxiety
(p=0.50), fat intake (p=0.34), or exercise (p=0.39) at long term
follow-up, and 96.8%
of the sample had no test related
distress. Longitudinal linear mixed model analyses were consistent with
results of cross-sectional
analyses. Screening test completion
was associated with sharing genomic test results with a physician (36.0%
shared; p<0.001)
and perceived utility of the test
(61.5% high perceived utility; p=0.002), but was not associated with the
genomic risk estimate
values themselves.
Conclusions
Over a third of DTC genomic test recipients shared their results with
their own physician during an approximate 1 year follow-up
period, and this sharing was
associated with higher screening test completion. Genomic testing was
not associated with long
term psychological risks, and most
participants reportedly perceived the test to be of high personal
utility.
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