Abstract
Purpose
National efforts have prioritized the identification of effective methods for increasing
case ascertainment and delivery of evidence-based health care for individuals at elevated
risk for hereditary cancers.
Methods
This study examined the uptake of genetic counseling and testing following the use
of a digital cancer genetic risk assessment program implemented at 27 health care
sites in 10 states using 1 of 4 clinical workflows: (1) traditional referral, (2)
point-of-care scheduling, (3) point-of-care counseling/telegenetics, and (4) point-of-care
testing.
Results
In 2019, 102,542 patients were screened and 33,113 (32%) were identified as at high
risk and meeting National Comprehensive Cancer Network genetic testing criteria for
hereditary breast and ovarian cancer, Lynch syndrome, or both. Among those identified
at high risk, 5147 (16%) proceeded with genetic testing. Genetic counseling uptake
was 11% among the sites with workflows that included seeing a genetic counselor before
testing, with 88% of patients proceeding with genetic testing after counseling. Uptake
of genetic testing across sites varied significantly by clinical workflow (6% referral,
10% point-of-care scheduling, 14% point-of-care counseling/telegenetics, and 35% point-of-care
testing, P < .0001).
Conclusion
Study findings highlight the potential heterogeneity of effectiveness attributable
to different care delivery approaches for implementing digital hereditary cancer risk
screening programs.
Keywords
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Article info
Publication history
Published online: February 10, 2023
Accepted:
January 26,
2023
Received in revised form:
January 24,
2023
Received:
October 3,
2022
Identification
Copyright
© 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
