Genetic Counseling, Genomics, Genetic Education

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".

Deadline for manuscript submissions: 20 August 2025 | Viewed by 419

Special Issue Editors


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Guest Editor
Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Interests: continuing education; professional development; coping and resiliency; standardized patient education; financing genetic counseling education

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Guest Editor
Feinberg School of Medicine, Northwestern University, Chicago, IL 60208, USA
Interests: public health genomics; precision public health; access to genetic counseling services; genetic counseling education; population genetic screening; health disparities related to genetic services

Special Issue Information

Dear Colleagues,

Genomic medicine is rapidly advancing, driven by innovations in genomics, technology, and better understandings of genetic conditions. With the increased accuracy and clinical actionability of genetic testing, a wide variety of medical subspecialties rely on genetic counselors to facilitate genetic testing. Genetic counselors are trained to provide patients and families with personalized, informed, and compassionate guidance on genetic testing and risk assessment. They are also well equipped to help other healthcare providers and administrators understand the clinical relevance of genetic assessment. Along with the rapid expansion of genomic technologies, there has been growth in the roles of genetic counselors, expanding from primarily clinical care-related roles, to career opportunities in laboratories, industry, research, advocacy, and policymaking. To compensate for this growth, genetic counseling training programs have increased in number in the US and globally. Alongside the expansion of master’s level genetic counseling programs, there has been growth in continuing education and advanced training for genetic counselors to ensure they are prepared for the rapid progression of genomic technologies, genetic testing, and the development of targeted therapies. Efforts have also been made to increase diversity in the profession to better represent the patient population. This growth is expected to continue as genetic research progresses, telemedicine expands, new treatment applications emerge, and healthcare systems increasingly recognize the importance of genetic counseling in managing health.

This Special Issue invites original research manuscripts, commentaries, and reviews addressing genetic counselors' roles, growth, and specialization internationally. The guest editor hopes that this Special Issue will allow readers to appreciate the diversity of genetic counseling roles and the profession's growth.

Dr. Kathleen D. Valverde
Prof. Deb A. Duquette
Guest Editors

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Keywords

  • genetic and genomic counseling
  • genetic education
  • genetic testing
  • bioethics
  • genetic research
  • genetic services

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Published Papers (1 paper)

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Review

20 pages, 1389 KiB  
Review
Psychosocial Factors Involved in Genetic Testing for Rare Diseases: A Scoping Review
by Samantha Strasser, Isabella R. McDonald, Melissa K. Uveges, Sharlene Hesse-Biber, Jordan Keels, Neil Smith and Andrew A. Dwyer
Genes 2025, 16(6), 614; https://doi.org/10.3390/genes16060614 - 22 May 2025
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Abstract
Background/Objectives: Rare diseases are predominantly genetic in etiology and characterized by a prolonged ‘diagnostic odyssey’. Advances in genetic testing (GT) have helped shorten the time to diagnosis for rare/undiagnosed conditions. We aimed to synthesize the evidence on psychosocial factors related to GT [...] Read more.
Background/Objectives: Rare diseases are predominantly genetic in etiology and characterized by a prolonged ‘diagnostic odyssey’. Advances in genetic testing (GT) have helped shorten the time to diagnosis for rare/undiagnosed conditions. We aimed to synthesize the evidence on psychosocial factors related to GT for rare diseases to inform more person-centered approaches to care. Methods: We conducted a systematic literature search in six databases using structured terms (September 2024). Retrieved articles underwent independent dual review. Data were extracted and collated in tables for analysis. Thematic analysis was used to identify promoters/barriers to GT for patients and families. Findings were validated by a patient advocate and were reported using PRISMA-ScR guidelines. Synthesized findings were mapped to the Theory of Planned Behavior to inform intervention development. Results: Of 1730 retrieved articles, 32 were included for data extraction/synthesis. Studies employed qualitative (n = 19), quantitative (n = 10), and mixed-methods (n = 3) approaches. Nearly all (29/32, 91%) were non-interventional, reporting on decision-making cognitions/processes (19/32, 59%), attitudes/preferences (15/32, 47%), psychosocial impact (6/32, 19%), and knowledge/awareness (4/32, 8%) of pre-conception/prenatal/diagnostic GT and carrier screening. Promoters included understanding GT, ending the diagnostic odyssey, actionable outcomes, personal/family history, altruism, and reproductive decision-making. Barriers included logistical (e.g., distance, cost), psychological burden, perceived lack of benefit, and discrimination/social stigma concerns. Conclusions: Some psychosocial factors related to GT for rare diseases overlap with those in literature on GT for common conditions. Identified factors represent targets for theory-informed, person-centered interventions to support high-quality GT decisions that are informed and aligned with patient/family values and preferences. Full article
(This article belongs to the Special Issue Genetic Counseling, Genomics, Genetic Education)
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