Impact of Population Genomic Screening on Patient Behavior and Care: Changes in Preventive Screening Behaviors Among HBOC Positive Individuals
Health Services and Implementation
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Primary Categories:
- Population Genetics
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Secondary Categories:
- Population Genetics
Introduction:
Population genomic screening has emerged as a promising approach to identify individuals with hereditary breast and ovarian cancer (HBOC).1,2,3 However, there are often concerns that patients identified as high risk, will not get appropriate downstream management.4 This study aims to investigate the impact of population genomic screening on patient behavior and management, focusing on uptake of updated breast cancer preventive screening recommendations among HBOC positive individuals. Additionally, we aimed to explore factors contributing to patients’ uptake of updated guidelines.
Methods:
As part of the Helix Research Network (HRN), participants across different health systems each provided a sample that underwent clinical-grade exome sequencing for subsequent evaluation of pathogenic or likely pathogenic variants in BRCA1 and BRCA2. For research purposes and with participants’ consent, longitudinal EHR data were also collected and linked with participants’ genetic data. The current analysis includes patients from five U.S. health systems. A longitudinal cohort study design was employed to examine the behavior of participants before and after enrollment in the Helix Research Network program.
We examined female participants aged 30-75 with a positive BRCA1 or BRCA2 result. Participants were excluded if they had less than one year of follow-up time or less than one year of EHR data availability prior to program enrollment. To assess changes in behavior following the return of positive results, we computed the proportion of individuals adherent to updated screening guidelines before and after return of result. Crude and adjusted screening rates were computed using poisson regression. Adjusted models included age, race (white, non-white), and time enrolled in the program as covariates. Logistic regression was used to estimate the probability of adherence with updated screening guidelines, adjusting for pre-enrollment screening rates, age group (30-39, 40-75), race (white, non-white), and duration of program enrollment.
Results:
Among women aged 30 to 75 with a positive BRCA1 or BRCA2 result, 329 patients met inclusion criteria. Crude and adjusted screening rates pre- and post-result showed an increase in adherence to breast cancer screening recommendations, with 52.6% of participants adhering to updated guidelines post-result compared to 37.3% pre-result (p < 0.01). Results from logistic regression indicated that the average predicted probability of receiving yearly breast cancer screenings following return of positive result is 0.38. Participants adherent prior to enrollment were more likely to receive yearly screenings (OR = 4.13,p < 0.001), while participants enrolled longer in the program were less likely to receive yearly screenings (OR = 0.68, p = < 0.001).
Conclusion:
This study provides evidence of the impact of population genomic screening on patient behavior and care among HBOC-positive individuals. The findings suggest that population genomic screening programs effectively identify high-risk individuals and lead to increased adherence to care recommendations and breast cancer screening rates. However, further efforts are needed to engage individuals who were not adherent with screening prior to enrollment and sustain long-term engagement in screening. Implementing population genomic screening has the potential to enhance early detection and management of HBOC, ultimately improving patient outcomes. Continued research is necessary to evaluate the long-term implications, cost-effectiveness, and strategies to engage and retain hard-to-reach populations in large-scale screening programs.
Population genomic screening has emerged as a promising approach to identify individuals with hereditary breast and ovarian cancer (HBOC).1,2,3 However, there are often concerns that patients identified as high risk, will not get appropriate downstream management.4 This study aims to investigate the impact of population genomic screening on patient behavior and management, focusing on uptake of updated breast cancer preventive screening recommendations among HBOC positive individuals. Additionally, we aimed to explore factors contributing to patients’ uptake of updated guidelines.
Methods:
As part of the Helix Research Network (HRN), participants across different health systems each provided a sample that underwent clinical-grade exome sequencing for subsequent evaluation of pathogenic or likely pathogenic variants in BRCA1 and BRCA2. For research purposes and with participants’ consent, longitudinal EHR data were also collected and linked with participants’ genetic data. The current analysis includes patients from five U.S. health systems. A longitudinal cohort study design was employed to examine the behavior of participants before and after enrollment in the Helix Research Network program.
We examined female participants aged 30-75 with a positive BRCA1 or BRCA2 result. Participants were excluded if they had less than one year of follow-up time or less than one year of EHR data availability prior to program enrollment. To assess changes in behavior following the return of positive results, we computed the proportion of individuals adherent to updated screening guidelines before and after return of result. Crude and adjusted screening rates were computed using poisson regression. Adjusted models included age, race (white, non-white), and time enrolled in the program as covariates. Logistic regression was used to estimate the probability of adherence with updated screening guidelines, adjusting for pre-enrollment screening rates, age group (30-39, 40-75), race (white, non-white), and duration of program enrollment.
Results:
Among women aged 30 to 75 with a positive BRCA1 or BRCA2 result, 329 patients met inclusion criteria. Crude and adjusted screening rates pre- and post-result showed an increase in adherence to breast cancer screening recommendations, with 52.6% of participants adhering to updated guidelines post-result compared to 37.3% pre-result (p < 0.01). Results from logistic regression indicated that the average predicted probability of receiving yearly breast cancer screenings following return of positive result is 0.38. Participants adherent prior to enrollment were more likely to receive yearly screenings (OR = 4.13,p < 0.001), while participants enrolled longer in the program were less likely to receive yearly screenings (OR = 0.68, p = < 0.001).
Conclusion:
This study provides evidence of the impact of population genomic screening on patient behavior and care among HBOC-positive individuals. The findings suggest that population genomic screening programs effectively identify high-risk individuals and lead to increased adherence to care recommendations and breast cancer screening rates. However, further efforts are needed to engage individuals who were not adherent with screening prior to enrollment and sustain long-term engagement in screening. Implementing population genomic screening has the potential to enhance early detection and management of HBOC, ultimately improving patient outcomes. Continued research is necessary to evaluate the long-term implications, cost-effectiveness, and strategies to engage and retain hard-to-reach populations in large-scale screening programs.