Focus and Scope

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.

  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.