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

Abstract

The scalable delivery of genomic medicine requires collaboration between genetics and non-genetics providers. Thus, it is essential to investigate and address the perceived value of and barriers to incorporating genetic testing into the clinical practice of primary care providers (PCPs). We used a mixed-methods approach of qualitative interviews and surveys to explore the experience of PCPs involved in the pilot DNA-10K population genetic testing program. Similar to previous research, PCPs reported low confidence with tasks related to ordering, interpreting and managing the results of genetic tests, and identified the need for additional education. PCPs endorsed high levels of utility for patients and their families but noted logistical challenges to incorporating genetic testing into their practice. Overall PCPs were not familiar with the United States’ Genetic Information Nondiscrimination Act and they expressed high levels of concern for patient data privacy and potential insurance discrimination. This PCP feedback led to the development and implementation of several processes to improve the PCP experience with the DNA-10K program. These results contribute to the knowledge base regarding genomic implementation using a mixed provider model and may be beneficial for institutions developing similar clinical programs.

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

“…For example, perceived understanding across result types was high overall; however, participants with lower education, lower income, or who did not identify as white reported feeling less confident in their comprehension and were more likely to indicate that they wanted additional resources to share results with family. In response to this finding, we are in the process of developing additional education materials for our program in multiple languages and making other program modifications to increase patient understanding and facilitate follow-up (Lemke et al , 2020 ). All patients are likely to benefit from the provision of resources that support patient education, family communication, and emotional responses.…”

“…To ensure that patients are getting appropriate follow-up care, clinical care pathways to systematically guide and monitor patient actions are being developed in the NorthShore EHR. In addition, we are piloting a genetic care coordinator role to assist patients and PCPs with appropriate medical management and to transition patients from primary to specialty care (Lemke et al , 2020 ).…”

“…It has been suggested that providers need additional resources and systems-level support to access relevant information at the point of care (Hamilton et al , 2017 ; Wilkes et al , 2017 ). To assess experiences and needs of the PCPs in our health system participating in the DNA-10K, we conducted a mixed-methods study, which has informed the development of resources to support PCPs in managing patient genetic results (Lemke et al , 2020 ).…”

Scaling Genetic Counseling in the Genomics Era

“…Identifying this evolving area of non-genetics provider practice, recent studies have evaluated the role of PCPs and non-genetics specialty providers in genomic medicine. Challenges in provider confidence and educational needs, and varying levels of perceived utility of genomic testing, have been identified by studies exploring the involvement of PCPs in genomic test implementation (37,46,54,75). However, a small number of studies have demonstrated that, while providers had various comfort levels with genomic testing and concerns about incorporating genomic sequencing into practice, most successfully provided appropriate clinical recommendations and planned to refer to genetics specialists when necessary (22,102).…”

Genomic Screening Identifies Individuals at High Risk for Hereditary Transthyretin Amyloidosis

“…There is increasing evidence that genomic screening may identify and improve outcomes for certain medically actionable conditions for which preventive measures and/or effective treatments are available [ 2 , 3 ]. Genomic screening programs, typically performed in the setting of large health system clinics [ 4 ], biobanks [ 2 ], or public health initiatives [ 3 ], may choose to return medically actionable findings with varying degrees of clinical utility. Recent studies have found that most individuals at genomic risk for medically actionable conditions are unaware of their risk [ 5 , 6 , 7 ], and that the majority of individuals informed of such risk will undergo recommended surveillance or risk-reducing interventions [ 2 , 8 ].…”