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

Area of Science:

• Genomic Medicine Implementation
• Primary Care Practice
• Health Services Research

Background:

• Scalable genomic medicine delivery necessitates collaboration between genetics and non-genetics specialists.
• Understanding primary care providers' (PCPs) perspectives on genetic testing is vital for successful integration.

Purpose of the Study:

• To explore PCPs' perceived value and barriers to incorporating genetic testing into clinical practice.
• To identify specific challenges faced by PCPs in a population genetic testing program.

Main Methods:

• A mixed-methods approach combining qualitative interviews and surveys.
• Exploration of PCP experiences within the pilot DNA-10K population genetic testing program.

Main Results:

• PCPs reported low confidence in ordering, interpreting, and managing genetic tests, highlighting a need for education.
• Logistical challenges were noted, alongside high perceived utility for patients and families.
• PCPs expressed concerns regarding data privacy and potential insurance discrimination, with limited awareness of the Genetic Information Nondiscrimination Act.

Conclusions:

• PCP feedback informed process improvements for the DNA-10K program, enhancing the PCP experience.
• Findings contribute to knowledge on genomic implementation models involving mixed provider types.
• Results offer insights for institutions developing similar clinical genomic programs.