Patient-Reported Outcomes and Experiences with Population Genetic Testing Offered Through a Primary Care Network

Abstract

To explore patient experiences in a large-scale primary care-based, preemptive genetic testing program. Methods: Patients who received genetic results from the initiative were invited to participate in an online survey 3 weeks postresult disclosure. A 6-month follow-up survey was sent to assess changes over time. Results: The initial survey was completed by 1646 patients, with 544 completing the 6-month follow-up survey. The following outcomes were high overall: patient-reported understanding of results (cancer: 87%; cardiac: 86%); perceived utility (75%); positive emotions (relieved: 66.8%; happy: 62.0%); family result sharing (67.6%); and satisfaction (87%), although analysis by demographic factors identified groups who may benefit from additional education and emotional support. Results-related health behaviors and discussions with providers increased over time (screening procedures 6.1% to 14.2% p < 0.001; provider discussion 10.3% to 25.3%, p < 0.001), and were more likely to take place for patients with positive cancer and/or cardiac results (39.8% vs. 7.6%, p < 0.001). Forty-seven percent of patients reported insurance discrimination concerns, and most (79.4%) were not familiar with privacy and nondiscrimination laws. Concerns regarding discrimination and negative emotions decreased between the two survey time points (privacy issues 44.6% to 35.1% p < 0.001; life insurance discrimination concerns 35.5% to 29.6%, p = 0.001; anxiety 8.1% to 3.3%, p < 0.001; and uncertainty 19.8% to 12.8%, p < 0.001). These findings led to the development and integration of additional patient resources to improve program implementation. Conclusion: Our findings highlight patient experiences with and areas of need in a community-based genomic screening pilot initiative using a mixed primary care/genetics provider model to deliver precision medicine.

Primary Care Physician Experiences with Integrated Population-Scale Genetic Testing: A Mixed-Methods Assessment

“…Concern regarding privacy and health or insurance discrimination was noted during PCP interviews and was endorsed by most surveyed PCPs. Of note, PCPs were considerably more concerned about privacy and insurance discrimination than surveyed patients who had clinical testing through the DNA-10K [30]: privacy (PCPs: 74.3% vs. patients: 47%); health insurance (60.3% vs. 38%); life insurance (91.5% vs. 36%). PCP concern about privacy and discrimination has the potential to be a barrier to patient referral or completion of genetic services and testing [10,29], thus PCP awareness of this discrepancy in concern levels is important in order to ensure the equitable offering of services to all patients.…”

Assessing Vietnamese American patient perspectives on population genetic testing in primary care: A community-engaged approach

“…Individual and provider experiences and outcomes from this initiative have been described previously. 19 , 20 The program was expanded in the spring of 2021 and included primary care sites serving ethnic minority communities in north Chicago.…”

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.…”

“…Restricted genetic competency among non-geneticists tasked with interpreting genetic test results may facilitate insufficient responses even when preventive opportunities exist. Genetic disease expertise clearly has a role in population genomic screening ( Lemke et al, 2021 ).…”