Genomic Medicine Year in Review

Starting in 2019, the American Journal of Human Genetics (AJHG) has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis and post them to the Accomplishments in Genomic Medicine website. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.

2024 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

Read the full review:

Manolio TA, Narula J, Rupert A, Bult CJ, Chisholm RL, Ginsburg GS, Green ED, Hooker G, Jarvik GP, Mensah GA, Ramos EM, Roden DM, Rowley R, Taylor CO, Williams MS. Genomic medicine year in review: 2024. Am J Hum Genet. 2024 Dec 5;111(12):2585-2588. doi: 10.1016/j.ajhg.2024.11.002.

Previous Years

2023 Year in Revew
1. Genetic diagnosis of hearing loss informs clinical management but is less likely in underrepresented patients
2. Polygenic risk scores and family history are independent indicators of inherited disease risk
3. Maternal-only noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian disorders
4. When lack of insurance coverage of genomic tests is a barrier to better care
5. Pharmacogenetic intervention reduces serious adverse drug events
6. Natural language processing helps to prioritize critically ill newborns for whole-genome sequencing
7. Population genomic screening for common hereditary conditions may be cost effective in young adults
8. Genome sequencing may lead to improved outcomes in vascular anomalies
9. Whole-genome sequencing may have greater diagnostic utility than a targeted gene panel in sick infants
10. New, specific gene editing may treat sickle cell disease
Read the full review:
Manolio TA, Narula J, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Green ED, Hooker G, Jarvik GP, Mensah GA, Ramos EM, Roden DM, Rowley R, Williams MS. Genomic medicine year in review: 2023. Am J Hum Genet. 2023 Dec 7;110(12):1992-1995. doi: 10.1016/j.ajhg.2023.11.001.
2022 Year in Review
1. Genome sequencing may be the method of choice for detecting repeat expansion disorders
2. Early genome sequencing in acutely ill infants improves management
3. Disclosing APOL1 results improves systolic blood pressure and health-related behaviors
4. Not to decide is to decide: Opt-out screening improves familial hyperlipidemia detection
5. Rapid point-of-care genotyping to avoid aminoglycoside-induced ototoxicity is eminently feasible
6. Genome sequencing yielded diagnoses and had immediate clinical implications: The UK 100,000 Genomes Project pilot
7. Methodologic extensions can improve polygenic risk score accuracy and generalizability
8. Pharmacogenomic testing improves early outcomes in depression
9. Genetic testing frequently identifies susceptibility variants in early-onset atrial fibrillation
10. Germline genomic screening for Lynch syndrome in the US is approaching cost effectiveness
Read the full review:
Manolio TA, Narula J, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Goldrich M, Green ED, Jarvik GP, Mensah GA, Ramos EM, Relling MV, Roden DM, Rowley R, Williams MS. Genomic Medicine Year in Review: 2022. Am J Hum Genet. 2022 Dec 1;109(12):2101-2104. doi: 10.1016/j.ajhg.2022.11.003.
2021 Year in Review
1. Population screening for hereditary breast and ovarian cancer is cost effective
2. Australian implementation of nation-wide molecular profiling in pediatric cancer
3. Let’s agree to agree on genomic variant classification
4. Nine genes are most informative for breast cancer susceptibility
5. Belgian model for universal non-invasive prenatal screening
6. Electronic health records reliably predict who should receive a diagnostic genetic test
7. Broad clinical deployment of rapid genomics-based precision care in infants is eminently feasible
8. Genomic analysis can reduce unnecessary bone marrow biopsies in African Americans
9. One third of cardiology patients have actionable genetic findings
10. Wanted: Evidence of outcomes of secondary findings disclosure
Read the full review:
Manolio TA, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Goldrich M, Jarvik GP, Mensah GA, Ramos EM, Relling MV, Roden DM, Rowley R, Williams MS, Green ED. Genomic medicine year in review: 2021. Am J Hum Genet. 2021 Dec 2;108(12):2210-2214. doi: 10.1016/j.ajhg.2021.11.006.
2020 Year in Review
1. Clopidogrel Pharmacogenetics – Genotyping Improves Outcomes, but Is it Convincing?
2. What Happens When You Sequence Prenatal DNA in Nearly Half a Country’s Pregnancies?
3. Genes Causing LQTS: The Long and Short of It
4. Implementing Whole-Genome Sequencing for Diagnosing Rare Diseases on a National Scale
5. Effectiveness of Population-Based Genomic Screening to Identify and Intervene upon Actionable Genetic Conditions
6. Renown Renowned for Potential Impact on Public Health
7. Predicting Type 1 Diabetes among At-Risk Children
8. 21st Century Technologies for 21st Century Babies
9. Is Anything Truly Monogenic?
Read the full review:
Manolio TA, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Goldrich M, Jarvik GP, Mensah GA, Relling MV, Roden DM, Rowley R, Tamburro C, Williams MS, Green ED. Genomic Medicine Year in Review: 2020. Am J Hum Genet. 2020 Dec 3;107(6):1007-1010. doi: 10.1016/j.ajhg.2020.11.005.
2019 Year in Review
1. Scaling up Variant Classification with Saturation Editing
2. Narrowing the List of Genes Associated with Sudden Death
3. What We’re Missing: Most BRCA1 and BRCA2 Variant Carriers Are Undetected
4. Cascade Screening for Familial Hypercholesterolemia
5. Effectiveness of Population-Based Genomic Screening to Identify and Intervene upon Actionable Genetic Conditions
6. Positive Clinical Impact of Systematic Genomic Assessments in Patients Undergoing a Diagnostic Odyssey
7. DNA Methylation Testing Improves Diagnosis Rate
8. Rapid Genetic Diagnosis in Critically Ill Infants
9. Cost-Effectiveness of DPYD Genotyping in Cancer Chemotherapy
10. An Analyst's Work is Never Done
11. CYP2C19 Genotyping in Antiplatelet Therapy
Read the full review:
Manolio TA, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Jarvik GP, McLeod HL, Mensah GA, Relling MV, Roden DM, Rowley R, Tamburro C, Williams MS, Green ED. Genomic Medicine Year in Review: 2019. Am J Hum Genet. 2019 Dec 5;105(6):1072-1075. doi: 10.1016/j.ajhg.2019.11.006. Epub 2019 Dec 5.

Last updated: February 24, 2025