Uploaded March 2025 | Updated September 2026, 1 hour ago
In 2024, the NHGRI Genomic Medicine Working Group identified 10 key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature found in the publicly searchable website, Accomplishments in Genomic Medicine.
Criteria for inclusion of papers in the 2024 Genomic Medicine Year in Review:
- Testing and managing iron overload after genetic screening-identified hemochromatosis
- Actionable genotypes and their association with lifespan in Iceland
- Impact of digitally enhanced genetic results disclosure in diverse families
- Chronic disease polygenic risk scores for clinical implementation in diverse US populations
- Skeletal muscle ryanodine receptor 1 variants and malignant hyperthermia
- Treating inherited retinal disease with gene editing
- Validation of a clinical breast cancer risk assessment tool for all ancestries
- Broader access to clinical genome sequencing benefits diverse individuals with rare diseases
- Benefits for children with suspected cancer from routine whole-genome sequencing
- Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records
AJHG review article: sciencedirect.com/science/article/pii/S0002929724004117?via%3Dihub
Genomic Medicine Year in Review: genome.gov/health/Genomics-and-Medicine/accomplishments/year-in-review
Notable Accomplishments in Genomic Medicine: genome.gov/health/Genomics-and-Medicine/accomplishments
Genomic Medicine Working Group: genome.gov/about-nhgri/National-Advisory--Council-for-Human-Genome-Research/Genomic-Medicine-Working-Group
In 2024, the NHGRI Genomic Medicine Working Group identified 10 key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature found in the publicly searchable website, Accomplishments in Genomic Medicine.
Criteria for inclusion of papers in the 2024 Genomic Medicine Year in Review:
- Testing and managing iron overload after genetic screening-identified hemochromatosis
- Actionable genotypes and their association with lifespan in Iceland
- Impact of digitally enhanced genetic results disclosure in diverse families
- Chronic disease polygenic risk scores for clinical implementation in diverse US populations
- Skeletal muscle ryanodine receptor 1 variants and malignant hyperthermia
- Treating inherited retinal disease with gene editing
- Validation of a clinical breast cancer risk assessment tool for all ancestries
- Broader access to clinical genome sequencing benefits diverse individuals with rare diseases
- Benefits for children with suspected cancer from routine whole-genome sequencing
- Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records
AJHG review article: sciencedirect.com/science/article/pii/S0002929724004117?via%3Dihub
Genomic Medicine Year in Review: genome.gov/health/Genomics-and-Medicine/accomplishments/year-in-review
Notable Accomplishments in Genomic Medicine: genome.gov/health/Genomics-and-Medicine/accomplishments
Genomic Medicine Working Group: genome.gov/about-nhgri/National-Advisory--Council-for-Human-Genome-Research/Genomic-Medicine-Working-Group
