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May 17, 2026Journal of Community Genetics0 citationsOpen Access

In their own words: a qualitative exploration of patients’ perspectives of genetic counseling sessions across clinical disciplines

LPLindsay PeiferHZHeather ZierhutDCDeborah Cragun

Key Points

  • This study aims to understand patients' perspectives on genetic counseling by capturing their own experiences and insights.
  • Semi-structured interviews conducted via phone or video within 1-2 weeks post-counseling; sample size n=25.
  • Transcripts were purposefully sampled from various clinics and specialties, including prenatal, cancer, cardiology, and general genetics.
  • A constructivist approach utilizing reflexive thematic analysis identified key themes from patient responses.
  • Five key themes emerged regarding patient experiences and GC behaviors: collaborative sessions, information value, GC expertise, and emotional impacts.
  • Patients felt empowered by actionable recommendations and identified new perspectives on genetic information post-session.
  • The findings emphasize the importance of patient-led discussions in the genetic counseling process.

Abstract

Abstract Genetic counselors (GCs) help individuals navigate living with genetic conditions via models of practice that emphasize GC-defined processes and outcomes. While quantitative, patient-reported measures have assessed patients’ experiences and outcomes, there are limited qualitative studies that explore patient-reported impressions of genetic counseling in their own voice. A subset of genetic counseling patients enrolled in the Genetic Counseling Processes Result in Outcomes (GC-PRO) study completed a semi-structured phone or video interview within 1–2 weeks of their genetic counseling session. Transcripts ( n = 25) were purposefully sampled from different clinic locations (three institutions), specialties (prenatal, cancer, cardiology, general genetics), participant responses to quantitative surveys, and demographics. A constructivist approach via reflexive thematic analysis identified five themes about the patient experience with GC behaviors and outcomes: (1) Follow my lead; (2) Working collaboratively over time; (3) We value information; (4) GC expertise and caring demeanor are unique; and (5) I left with takeaways. Patients identified the importance of GC behaviors that fostered a patient-led, collaborative session where informational and supportive needs were met in a tailored manner. Clear information-giving from a knowledgeable GC was consistently perceived to be valuable. Participants typically did not enter a session with a predetermined outcome, yet they later identified emotional impacts, gaining new perspectives about genetic information, and feeling empowered by actionable recommendations as outcomes. This research adds to the literature on patient-defined outcomes and perspectives on counseling processes which at times differ from classical provider definitions and serves to support additions to the current models of practice.

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Cite This Study

Peifer et al. (2026) studied this question.

synapsesocial.com/papers/6a095b787880e6d24efe13dehttps://doi.org/10.1007/s12687-026-00897-5
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