Focus and Scope

The Journal of Medical Genetics and Clinical Biology focuses on studies that translate human genetic and multi-omic discoveries into clinical value—improving diagnosis, risk stratification, therapeutic selection, and patient outcomes. We welcome high-quality manuscripts across the following interconnected areas:

  1. Clinical Genomics & Diagnostics: Gene panels, WES/WGS, copy-number/structural variant detection, variant interpretation (ACMG/AMP), laboratory validation and quality management.

  2. Mendelian & Complex Diseases: Discovery/confirmation of disease genes, genotype–phenotype correlations, penetrance, and modifiers.

  3. Cancer Genetics: Hereditary cancer syndromes, germline testing, clinically actionable tumor genomics, cascade testing, and surveillance strategies.

  4. Pharmacogenomics: Genotype–drug response, dosing algorithms, and implementation in prescribing workflows.

  5. Biomarkers & Precision Therapeutics: Prognostic/predictive markers, companion diagnostics, and treatment-response monitoring.

  6. Reproductive, Prenatal, and Neonatal Genomics: Carrier screening, NIPT/diagnosis, newborn screening, and perinatal counseling.

  7. Population & Public-Health Genomics: Founder/ancestry effects, screening programs, equity and access to genomic medicine.

  8. Bioinformatics & Decision Support: Pipelines, databases, knowledgebases, AI/ML for variant classification and clinical decision support.

  9. Multi-omics Integration: Transcriptomics, epigenomics, proteomics, metabolomics linked to clinical phenotypes.

  10. Gene/Cell-Based Therapies & Functional Validation: Therapeutic targeting, trial-readiness, and clinically oriented functional studies.

  11. Genetic Counseling, Ethics, Law & Policy (ELSI): Consent, return of results, secondary findings, data sharing, and privacy.

  12. Implementation Science & Health Services: Real-world adoption, outcomes, cost-effectiveness, and workflow design.

  13. Education & Training: Curricula, competencies, and tools for clinicians, counselors, and laboratorians.

  14. Clinical Microbiology & Host-Microbe Genomics: Studies explicitly focusing on the role of the human microbiome, pathogen genomics, and clinical microbiology in influencing disease phenotypes, genetic predisposition, immune response, and therapeutic outcomes.