From Genetic Mechanisms Discovery to Patient-Centered Care: The Expanse of Genomics Research
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".
Deadline for manuscript submissions: 25 November 2025 | Viewed by 1057
Special Issue Editors
Interests: continuing education; professional development; coping and resiliency; standardized patient education; financing genetic counseling education
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 breakthroughs in understanding genetic mechanisms, technological innovations, and the growing clinical applicability of genomic research. As our knowledge of disease-associated variants, functional genomics, and molecular pathways expands, these discoveries are increasingly translated into patient-centered care, enabling precise diagnostics, targeted therapies, and personalized risk assessment.
This progress relies on interdisciplinary collaboration, integrating foundational genetic research with clinical implementation. From elucidating pathogenic variants to developing therapeutic interventions, genomics research now spans diverse medical specialties, reshaping how we diagnose, treat, and prevent genetic conditions. At the same time, advances in genomic technologies—such as multi-omics integration, CRISPR-based editing, and AI-driven variant interpretation—are accelerating the translation of mechanistic discoveries into real-world applications.
However, challenges remain in ensuring equitable access, optimizing clinical utility, and bridging gaps between research and practice. Efforts to diversify genomic datasets, refine functional assays, and improve variant classification are critical to delivering inclusive, evidence-based care.
This Special Issue invites original research, reviews, and perspectives that explore the full spectrum of genomics research, from fundamental genetic discoveries to their clinical and therapeutic implementation. We welcome submissions on novel disease mechanisms, genotype–phenotype analysis, functional genomics, translational bioinformatics, implementation science, and strategies for advancing precision medicine. By highlighting these themes, we aim to foster discussions on how genomic research can evolve to better serve patient needs worldwide.
Dr. Kathleen D. Valverde
Prof. Deb A. Duquette
Guest Editors
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- Genomic Medicine
- Precision Medicine
- Functional Genomics
- Variant Interpretation
- Genetic Mechanisms
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