P517: Identifying potential genetics referrals in the primary care setting: Impact of genetic counselor triage

Genetics in Medicine Open 2026 Open access

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Authors: Laura Duncan, Mohammad S. Kahrizi, Jennifer L. Kemppainen, Sarah A. Kroc, Courtney B. Graddy, Adrianna D.M. Clapp, Christabel Opara, Richard John Presutti
DOI: 10.1016/j.gimo.2026.104009
Cited by: 0

Abstract

Rare disease is expected to affect 1 in 10 individuals, and the majority of rare diseases have a genetic etiology. Rare disease patients are often seen in the primary care (PC) setting, where ideally, they could be referred for genetic assessment. Literature demonstrates barriers in discussing genetics in a PC setting, including gaps in the knowledge of Primary Care Physicians (PCPs). Genetic counselors (GCs) may fill those gaps. Published data on GC primary care integration focuses on the utility of genetic counseling in a high-risk population for psychiatric counseling.

Fields of Study & Subjects

Genomics and Rare Diseases Healthcare Systems and Technology Counseling Practices and Supervision

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104009–104009
Publication date
1 January 2026
Language
EN