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

Abstract

Aims: 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.

Keywords: clinical implementation; genetic testing; patient reported outcomes; precision medicine; primary care.

FIG. 1.

DNA-10K patient workflow. Color images are available online.

FIG. 2.

(1) Women were more likely to report that the desire to learn about ways to improve health influenced their decision to a great extent (59.0% vs. 47.3%, p < 0.001). (2) Participants ≥50 years old were interested in their personal response to medications to a great extent more often than participants <50 years old (51.1% vs. 41.9%, p < 0.001). Color images are available online.

FIG. 3.

Participants were less likely to report clear understanding of cancer or cardiac risk if they reported themselves to be in fair/poor health (cancer: 77.2% vs. 87.3%, p = 0.004; cardiac: 87.2% vs. 73.7%, p < 0.001), did not identify as white (cancer: 81.4% vs. 87.5%, p = 0.006; cardiac: 87.0% vs. 81.3%, p = 0.025), or had less than a bachelor's degree (cancer: 80.1% vs. 88.1%, p = 0.004; cardiac: 87.7% vs. 79.7%, p = 0.003). Color images are available online.

FIG. 4.

(1) Those with positive cancer and/or cardiac results were more likely to agree that they felt more confident managing their health care, were more likely to follow recommendations from their health care provider, and that results were helpful for current decision making (confident: 68.6% vs. 55.4%, p < 0.001; recommendations: 73.8% vs. 54.4%, p < 0.001; decision making: 61.8% vs. 48.0%, p < 0.001). (2) Participants who self-reported to have excellent/very good/good health were more likely to agree that their genetic test results helped them better understand their health status (76.1% vs. 56.5%, p < 0.001) and will help them make health care decisions in the future (73.6% vs. 57.0%, p = 0.005). Color images are available online.

FIG. 5.

Patient feelings about their genetic test results at 3 weeks and at 6 months. Color images are available online.

FIG. 6.

Patient privacy and discrimination concerns and knowledge of the Genetic Information Nondiscrimination Act at 3 weeks and 6 months. Color images are available online.