Primary Care Providers' Experiences With an Active Elective Genetic Testing Program

Area of Science:

• Genomics and Precision Medicine
• Primary Care Practice
• Health Services Research

Background:

• Elective genetic testing (EGT) programs are expanding, offering pharmacogenomic insights and disease risk screening.
• Primary care providers (PCPs) are key to EGT implementation, managing test initiation, patient education, and result interpretation.
• Limited research exists on PCP experiences within health systems offering clinical EGT.

Purpose of the Study:

• To explore primary care providers' perceptions of the benefits and barriers associated with implementing elective genetic testing in clinical practice.
• To understand how PCPs conceptualize and integrate EGT within their existing workflows.
• To identify needs for improved education and support for PCPs managing EGT.

Main Methods:

• Semi-structured interviews were conducted with 16 PCPs at a Midwest health system with an established EGT program.
• The study was a sub-component of the larger mixed-methods Imagenetics Initiative.
• Thematic analysis was used to analyze interview data regarding PCP experiences with EGT.

Main Results:

• PCPs generally viewed EGT favorably, conceptualizing it similarly to traditional diagnostic services.
• Despite educational efforts, misconceptions about EGT's goals, results, and limitations persisted among PCPs.
• Pharmacogenomic profiling was perceived as having more immediate clinical utility than screening for monogenic disease risks.
• PCPs cited time constraints and patient priorities as barriers, expressing a need for more educational resources and access to genetic specialists.

Conclusions:

• PCPs recognize the potential utility of EGT but require enhanced educational support and streamlined integration pathways.
• Addressing misconceptions and providing accessible expertise are crucial for optimizing EGT adoption in primary care.
• Successful EGT implementation necessitates a focus on practical challenges and opportunities within real-world clinical settings.