Modern genomic medicine extends beyond genetic testing. Accurate interpretation and an individualized management plan often require coordinated input from several specialties. Genomic multidisciplinary teams bring this expertise together and help translate genomic evidence into routine clinical care.
A genomic team may include clinical geneticists, specialty physicians, laboratory geneticists, bioinformaticians, pathologists, radiologists, genetic counsellors, pharmacists and molecular scientists. Together they interpret a finding in the context of phenotype, medical and family history, imaging, laboratory investigations and current evidence.
A 2024 systematic review found reported diagnostic yields of 10–78% across genomic multidisciplinary-team studies; in studies that measured the team’s added contribution, multidisciplinary review increased diagnostic yield by 6–25%. The review also identified benefits for phenotype refinement, resolution of uncertain variants, test selection and management.1
Multidisciplinary genomic care is increasingly used in precision oncology, neurogenetics, cardiovascular genetics, nephrogenetics, prenatal medicine, pediatrics and rare-disease programmes. Its value lies not only in reaching a diagnosis, but also in coordinating safe, clinically useful action. The ACMG recognizes diagnostic, therapeutic, management, reproductive and familial benefits as dimensions of clinical utility.2
Core components
- Comprehensive clinical and phenotypic evaluation
- Evidence-based genomic interpretation
- Multidisciplinary case review
- Integration of laboratory, imaging and clinical findings
- Personalized management recommendations
- Family risk assessment and cascade evaluation
- Long-term follow-up and periodic reinterpretation