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

Author:

Platt Dylan M.12ORCID,Blout Zawatsky Carrie L.3,Christensen Kurt D.456ORCID,Green Robert C.356,Hajek Catherine17ORCID,Hickingbotham Madison R.4,Hutchinson Allison M.28,LeBlanc Jessica L.4,Zoltick Emilie S.4ORCID,Jamal Leila910

Affiliation:

1. Sanford Health Imagenetics, Sioux Falls, SD, USA

2. Augustana University, Sioux Falls, SD, USA

3. Ariadne Labs, Boston, MA, USA

4. Harvard Pilgrim Health Care Institute, Boston, MA, USA

5. Harvard Medical School, Boston, MA, USA

6. Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA

7. Helix OpCo LLC, San Mateo, CA, USA

8. Sanford Health, Sioux Falls, SD, USA

9. National Cancer Institute, Bethesda, MD, USA

10. National Institutes of Health Clinical Center, Bethesda, MD, USA

Abstract

Elective genetic testing (EGT) programs that provide pharmacogenomic information to guide medication management and screen for medically actionable disease predispositions are emerging in a number of health systems. Primary care providers (PCPs) are at the forefront of test initiation, patient education, and management of EGT results. However, little research has examined the experiences of PCPs in health systems offering clinical EGT. We conducted semi-structured interviews, a sub-study of the larger mixed-methods Imagenetics Initiative, with 16 PCPs at a health system in the Midwest with a clinical EGT program supported by provider education, automated clinical decision support, and enhanced access to genetic specialists. The purpose of these interviews was to understand perceptions about the benefits and barriers of implementing EGT in clinical practice. Thematic analysis indicated that EGT is conceptualized similar to traditional diagnostic services. PCPs were generally favorable toward EGT; however, targeted education did not dispel misconceptions about the goals, results, and limitations of EGT. Most PCPs endorsed the potential utility of EGT. Pharmacogenomic profiling was seen as having more immediate impact for patients than screening for monogenic disease risks. PCPs reported that they weighed discussions about EGT against time limitations and the need to prioritize patients’ existing health concerns. Regardless of their education levels and familiarity with genetics, PCPs desired additional educational resources and greater access to genetic specialists. Our study provides unique insight into PCPs’ experiences with clinical EGT in health systems that have adopted EGT and highlights the practical challenges and potential opportunities of EGT integration.

Funder

Sanford Health

Publisher

SAGE Publications

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