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Exploratory study identifies challenges and strategies for advancing genetic counseling worldwide.
Despite broad consensus on the importance of genetic counseling (GC) in the era of genomic medicine, formal recognition of GC as an independent profession remains uneven worldwide. This study aimed at understanding factors that hinder its establishment in some countries and identifying the most pressing questions surrounding its global development. We focused on common challenges, enabling factors, and strategies that have influenced the professionalization of GC across diverse contexts. An exploratory qualitative study was conducted through interviews with key professionals who actively contribute to the field's growth worldwide. Data were analyzed using reflexive thematic analysis, leading to the identification of three overarching themes that reflect upon the establishment and growth of the GC profession: (a) misunderstandings about the profession; (b) diverse routes in its evolution; and (c) strategies for its development and recognition. Findings indicate that the profession tends to evolve through four recurring stages: early, emerging, established, and consolidated, which are repeated across countries, with local variation. This study documents global patterns in the progress of the GC profession and translates them into a practical set of frequently asked questions (FAQs), purposely designed to support decision-makers, educators, and practitioners in advancing understanding, recognition, regulation, and equitable access to GC services worldwide. These FAQs explore whether GC is a distinct profession, its practice model, and the actual roles genetic counselors perform. It examines skills required, title consistency, and how well other healthcare professionals and consultands (affected patients and families) understand the role of GCs. It also highlights the impact of GCs on healthcare efficiency and patient outcomes.
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Paneque et al. (2026) studied this question.
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