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Updated: Aug 14, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Does personal genome testing drive service utilization in an adult preventive medicine clinic?
Ny Hoang1,2, Robin Hayeems3, Jill Davies4
1Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada. ny.hoang@sickkids.ca.
Abstract:
Personal genome testing (PGT) that assesses risk for common diseases may influence the use of preventive health services, but outcome data are limited. We aimed to assess health service utilization following PGT. We conducted a retrospective matched cohort study at an adult health clinic. Medical records of clients who pursued PGT at their comprehensive health assessment (CHA) over a 1-year period (N = 388) were reviewed and compared to age- and sex-matched clients who underwent CHA but not PGT (N = 388). We measured condition-specific health services used post CHA up to two subsequent visits while accounting for confounding factors (e.g., family history, health status, and age). A relatively equal number of post CHA services were used by clients who pursued PGT and those who did not pursue PGT (52% and 48%, respectively). Overall and across the majority of conditions examined, clients' service utilization was significantly associated with health status, e.g., clients identified as "at risk" on CHA for heart attack used 2.86 times more services than clients not at risk. Pursuing PGT was not significantly associated with increased use of services post CHA overall or for most of the conditions examined. Our data demonstrate that health status rather than pursuing PGT is the strongest driver of service utilization in this population. Overall, pursuit of PGT and PGT results does not appear to significantly drive the utilization of downstream health services.
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