Ethically Integrating Genomics in Primary Care: An Invitation to Share Implementation Best Practices

在初级保健中合乎伦理地整合基因组学:分享最佳实践的邀请

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Abstract

Genomic innovations, including pharmacogenomics, are becoming increasingly relevant to routine medical care and hold promise for advancing prevention, early diagnosis, and treatment in primary care. However, integrating genetic services in this setting requires navigating a fragmented health care system, guided by national recommendations but marked by variability in reimbursement, clinician training, and infrastructure across regions. This article presents insights from a multidisciplinary Mayo Clinic task force examining the clinical, ethical, and implementation aspects of genomic services for adult primary care patients. We highlight the role of primary care clinicians in identifying individuals at risk for inherited conditions, such as hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia. The article outlines current implementation models, emphasizes the value of family history, and addresses persistent challenges including limited clinician confidence, time constraints, and inconsistent access to services due to insurance and reimbursement variability. Educational and systems-level approaches, including core competencies, clinical decision support, and ethical frameworks, are essential to support primary care clinicians and to ensure responsible, scalable implementation. We also explore how genomics can reinforce the primary care mission by enabling patient-centered care, improving outcomes, and proactively addressing gaps in access. Ethical considerations, such as patient autonomy, informed consent, and privacy-sensitive communication.

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