Implementing Primary Care Mediated Population Genetic Screening Within an Integrated Health System

Abstract

Introduction: Genetic screenings can have a large impact on enabling personalized preventive care. However, this can be limited by the primary use of medical history-based screenings in determining care. The purpose of this study was to understand the impact of DNA10K, a population-based genetic screening program mediated by primary care physicians within an integrated health system to emphasize its contribution to preventive healthcare.Methods: Construction of the patient experience as part of DNA10K shaped the context for PCP engagement within the program. A cross-sectional analysis of patient consents, orders, tests, and results of nearly 10,000 patients within the primary care specialties of family medicine, internal medicine or obstetrics/gynecology between April 1, 2019 and January 22, 2020 was conducted.Results: Across all specialties, a median number of 7.5 cancer and cardiovascular disease variants per PCP was found. The average age of the study population was 49.6 years. Over 8% of these patients had at least one actionable genetic risk variant and almost 2% of patients had at least one CDC Tier 1 variant. The median numbers of patients per PCP with either hereditary breast and ovarian cancer, Lynch Syndrome, or Familial Hypercholesterolemia was 1 (Interquartile Range 0-2).Discussion: The analysis of test results and the engagement of an integrated healthcare system in the implementation of a genetic screening program suggests that it can have a large impact on population health outcomes and minimal referral burden to PCPs if identified risks can lead to preventive care.

Implementing Primary Care Mediated Population Genetic Screening Within an Integrated Health System

“…Medians and interquartile (IQR) ranges of genetic test result frequencies per PCP are reported at the overall and specialty levels for cancer and cardiovascular pathogenic variants, Tier 1 pathogenic variants, 1 non-Tier 1 pathogenic variants, and the percentage of actionable pharmacogenomic variants. 4 Group differences for demographics and test results were examined using Kruskal-Wallis, ANOVA with posthoc Tukey's honestly significant difference (HSD) test, and Wilcoxon Rank Sum tests in Statistical Analysis System (SAS) version 9.4 (Cary, NC) with P < .05 being considered significant.…”

Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record

“…Many studies that examine the outcomes of delivering actionable genetic findings to previously undiagnosed individuals do so in a clinical setting, and the clinical documentation of the finding is a given ( Godino et al, 2016 ; Menko et al, 2019 ; David et al, 2021 ). It cannot be assumed that participants will act upon the information entrusted to them, even when the information is potentially life altering (as clearly indicated in their initial informed consent) and the individual is provided with professional advice regarding recommended action.…”

“…Additional factors such as age or prior presentation of T1pos related disease (such as breast cancer for an individual with HBOC) play a role as well. For these and other reasons, it has been shown that the uptake of pre-symptomatic genetic testing is considerably lower than 100% even for at-risk individuals ( Finlay et al, 2008 ; George et al, 2015 ; Menko et al, 2019 ; Actkins et al, 2021 ; David et al, 2021 ). Considering that 9.1% of surveyed T1pos participants with an EHR record had prior, EHR-documented knowledge of their condition and additional participants already had interventions due to prior presentation of their underlying risk, it is perhaps not surprising that just 71% of T1pos Participants with EHR record indicated that they shared their results with their healthcare providers ( Figure 3 ).…”

“…However, screening the general population can only be effective if genetic findings are successfully disseminated to project participants and if a significant portion of the screened individuals follow recommended actions. However, this may not necessarily be the case as it has been shown that the uptake of genetic testing and their results may be sub-optimal and that primary care providers are still not comfortable with genetic testing ( Press et al, 2000 ; Binetti et al, 2006 ; Finlay et al, 2008 ; George et al, 2015 ; Godino et al, 2016 ; Bijlsma et al, 2018 ; Menko et al, 2019 ; Actkins et al, 2021 ; David et al, 2021 ).…”

Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel

“…Research involving return of actionable genomic sequencing results to patients for clinical use ( Duow and Marjanovic, 2016 ; Linderman et al, 2016 ; Sanderson et al, 2016 ; Suckiel et al, 2016 ; Ryan et al, 2017 ; Murray et al, 2018 ; Rego et al, 2018 ; Reuter et al, 2018 ; Sapp et al, 2018 ; Schwartz et al, 2018 ; David et al, 2019 ; Nussbaum et al, 2019 ; Williams, 2019 ; Zoltick et al, 2019 ; Walton et al, 2020 ; David et al, 2021 ; Kelly et al, 2021 ; Khoury and Dotson, 2021 ; Lemke et al, 2021 ; Miller et al, 2021 ), potential harms of proactive testing, quality of next generation sequencing technology, and implementation of genomic medicine ( Weitzel et al, 2016 ; Ginsburg et al, 2019 ; Williams, 2019 ) strongly informed our design.…”