The journal maintains a high Impact Factor of 6.2 and ranks in the first quartile, demonstrating its influence in medical genetics. ACMG attributes its success to dedicated editors, reviewers, authors, and staff.
The American College of Medical Genetics and Genomics (ACMG) has published a statement providing recommendations for the reporting of variants of uncertain significance (VUS) in germline genetic and genomic testing. The guidance aims to promote clarity, consistency, and best practices in the reporting of VUS findings, supporting approp...
The ACMG Foundation will present customized adaptive bicycles to children with genetic or medically complex conditions at the 2026 ACMG Annual Clinical Genetics Meeting. The bikes offer life-changing opportunities for mobility, independence, and participation in everyday activities.
Dr. Qiliang Ding, a trainee researcher, received the inaugural 2026 Rising Scholar Trainee Award for his innovative work on clinical implementation of emerging genomic technologies. His research focuses on data analytics and bioinformatics to advance genomic diagnostics.
Gupta received the award for her article on systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications. Her study found that at least 1.6% of variant classifications used in electronic health records were outdated based on current ClinVar classifications.
The American College of Medical Genetics and Genomics announces press registration is now open for the 2026 ACMG Annual Clinical Genetics Meeting. Journalists can explore groundbreaking research, emerging technologies, and advances shaping personalized medicine.
Dr. Bianca Seminotti has received the ACMG Foundation 2026 Early Career Travel Award for her abstract on mitochondrial function in congenital NAD deficiency due to biallelic NADSYN1 variants. The award supports promising young genetics professionals attending the ACMG Annual Clinical Genetics Meeting.
Eva Vailionis, a cancer genetic counselor at Memorial Sloan Kettering Cancer Center, has been awarded the 2026 ACMG Foundation Genetic Counselor Best Abstract Award. Her abstract on TMEM127 pathogenic variants presents key findings on prevalence and tumor characteristics in patients with these variants.
Dr. Bo Yuan has been recognized with the 2026 Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award for his pioneering work in genetic disorders, artificial intelligence-driven tools, and pharmacogenomics. His research aims to improve clinical care, scientific understanding, and public health through innovative technologies.
Dr. John C. Carey, a globally respected clinical geneticist and educator, will receive the 2026 David L. Rimoin Lifetime Achievement Award for his career-defining contributions to medical genetics. He has authored over 400 peer-reviewed articles and co-authored widely used textbooks.
The American College of Medical Genetics and Genomics announces Medical Genetics Awareness Week 2026, celebrating the power of collaboration in medical genetics. The week aims to bridge awareness gaps about the field and its professionals.
The 2026 ACMG Annual Clinical Genetics Meeting will bring together experts in medical genetics and genomics to present groundbreaking research on personalized medicine. Journalists can access leading experts and timely story ideas on emerging technologies like AI in genetics and gene editing, with complimentary registration available.
The American College of Medical Genetics and Genomics has been awarded full, four-year reaccreditation by the Accreditation Council for Continuing Medical Education, reflecting its commitment to delivering evidence-based education in medical genetics and genomics. The reaccreditation marks 25 years of uninterrupted accreditation for ACMG.
Melanie Wells' tenure as ACMG CEO concluded on November 21, 2025, with significant operational transformation and financial stabilization. She led the organization through a period of remarkable progress and transformation.
The American College of Medical Genetics and Genomics has published a new clinical practice resource guiding clinicians in managing individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1 genes. The resource provides evidence-based recommendations on personalized risk assessment, surveillance, and risk-r...
The ACMG has established a Newborn Screening Coalition to maintain national oversight and evaluation of genetic disorders, ensuring continuity in the nation's newborn screening system. The coalition will uphold standards of evidence-based review and transparency.
The American College of Medical Genetics and Genomics has released its updated 2025 secondary findings gene list v3.3, adding three new genes to the list and introducing a new publicly available webpage to aid clinical labs in determining reportable variants. The update aims to ensure patient benefit from advances in genomic medicine.
The American College of Medical Genetics and Genomics (ACMG) is organizing a new advisory framework to uphold the integrity of nationally coordinated newborn screening recommendations. The ACMG will convene a virtual stakeholder roundtable to gather input on the structure and function of the new expert advisory group.
The American College of Medical Genetics and Genomics (ACMG) commends NASEM for its report on sustaining and advancing excellence in newborn screening. The report outlines nine recommendations to improve the program, including national leadership, multistakeholder input, and expanded education and awareness.
Jessica Adsit, a board-certified genetic counselor, received the 2025 ACMG Foundation Genetic Counselor Best Abstract Award for her platform presentation on next-generation sequencing in blastocyst stage embryos. The award celebrates contributions to research and clinical care made by licensed genetic counselors.
Ali H. Bereshneh, PhD received the award for his work on heterozygous De novo variants in CDKL1 and CDKL2, causing neuroregressive phenotypes in humans and Drosophila. He established a comprehensive Rare Neurogenetic Disorders Registry for Iran.
Isabelle Cooperstein, a PhD candidate, receives the ACMG Foundation/Revvity Early Career Travel Award for her work on developing computational tools for rare disease patients. Her research integrates phenotypic and genomic data to create accessible solutions.
Dr. Monica Wojcik, a neonatologist and clinical geneticist, receives the prestigious award for her innovative research and clinical practice focused on rare diseases affecting fetuses and newborns. Her work aims to improve diagnosis, treatment, and health services for families affected by these conditions.
The ACMG Foundation has presented four Next Generation Fellowship Awards to talented clinicians, researchers, and scientists. These winners are making significant impact in the field of genomics, advancing diagnosis, and patient care. The award recognizes their dedication to innovative approaches and commitment to improving healthcare ...
Dr. Kiely N. James received the 2025 Richard King Award for her published article on genome sequencing and its clinical relevance. The award aims to encourage high-quality research in Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics.
The American College of Medical Genetics and Genomics has published a new evidence-based clinical guideline for phenylalanine hydroxylase deficiency diagnosis and management. The guideline provides recommendations for treatment, implementation considerations, research priorities, and economic considerations to improve patient outcomes.
Christiana Wang, a second-year PhD candidate, has been awarded the prestigious award for her platform presentation on antisense oligonucleotide therapy for a dominant negative SPTAN1 pathogenic variant. Her research aims to develop individualized therapy for treating rare genetic disorders.
Melissa A. Kelly, MS, CGC, receives the 2024 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on integrating genomic medicine into healthcare. Her work exemplifies the importance of genetic counselors in clinical research and improving genetic services to populations.
The ACMG Foundation for Genetic and Genomic Medicine has presented seven Next Generation fellowship awards to promising early career professionals in medical genetics and genomics. The recipients include Xueyang Pan, Bianca Seminotti, and Adriel Yejin Kim, who will support their research projects with corporate donations from Pfizer, S...
Meena Sethuraman, a third-year medical student, received the 2024 ACMG Foundation/Revvity Travel Award for her research on genetic variants in fatty acid oxidation disorders. The award recognizes her platform presentation on characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency.
Rory James Tinker, MD, has been selected as the recipient of the 2024 Richard King Award for his outstanding publication on phenotypic presentation of Mendelian disease. The award recognizes his research's impact on identifying, diagnosing, and treating rare disorders.
The American College of Medical Genetics and Genomics (ACMG) has released a points to consider statement on the safety and efficacy of polygenic risk score assessment for embryo selection. The statement concludes that there is insufficient evidence to support its clinical utility, and further research is needed.
A new clinical practice resource provides valuable information for healthcare professionals caring for individuals with pathogenic variants in the CHEK2 gene. The resource assesses personalized risk estimates based on family history, specific variant, and other factors.
The American College of Medical Genetics and Genomics has released its updated Secondary Findings Gene List (SF v3.2) with three new cardiovascular genes added, including CALM1, CALM2, and CALM3. The list provides guidance on reporting incidental findings in clinical exome and genome sequencing.
The American College of Medical Genetics and Genomics has released an updated minimum variant set of 100 CFTR gene variants for carrier screening, replacing the previous 23-variant list. The new recommendations apply to genetic testing to determine carrier status, not diagnosis or newborn screening.
The American College of Medical Genetics and Genomics (ACMG) has published a statement addressing factors that contribute to bias in clinical genetic testing. The statement highlights three main areas: environmental, clinical, and technical biases, which affect health equity for individuals from historically marginalized populations.
Isabelle B. Cooperstein, a PhD candidate, receives the 2023 David L. Rimoin Inspiring Excellence Award for her work on rare disease diagnosis tools. Her research aims to create accessible diagnostic solutions using Human Phenotype Ontology and sequencing data.
The ACMG Foundation presented four Next Generation Fellowship Awards to Amélie Pinard, Mina Tabrizi, Herodes Guzman, and others. These awards recognize the support of Bionano Genomics and Sanofi and aim to advance medical genetics and genomics specialties.
Sarah Jurgensmeyer, MS, CGC, received the 2023 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on increasing access to pediatric genetic services. The award recognizes the increasingly important role of genetic counselors in clinical genetics and genomic medicine.
Dr. Nara Sobreira has developed innovative tools like GeneMatcher and VariantMatcher to aid in rare disease diagnosis, earning her the 2023 Watson Genetic Medicine Innovation Award. She continues to work on expanding genome analysis accessibility through education and research initiatives.
Dr. Alexander M. Holtz received the award for his published article on heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies. The study highlights primary cilia-dependent defects in Hedgehog signaling, shedding light on a previously unknown autosomal dominant condition.
The American College of Medical Genetics and Genomics recommends that noninvasive prenatal screening (NIPS) become the standard screening option for all pregnant individuals. NIPS has been shown to have a high accuracy rate, with detection rates of 98.8% for Trisomy 21 and 99.6% for sex chromosome abnormalities.
The American College of Medical Genetics and Genomics has released an updated recommended minimum gene list for the reporting of secondary findings. The update adds five new genes, four associated with dilated cardiomyopathy predisposition and one with hereditary transthyretin amyloidosis, a cause of heart failure. The new list aims to...
The American College of Medical Genetics and Genomics has released a new Clinical Practice Resource to guide the treatment of patients with hearing loss. The resource offers information on causes, presentations, and approaches to clinical evaluation and genetic testing.
Carly Peterson, a genetic counseling graduate student, received the 2022 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award. Her platform presentation explored parenting stress in raising children with sex chromosome aneuploidies, using data from the eXtraordinarY Babies Study.
The ACMG Foundation presented four Next Generation Fellowship Awards to outstanding individuals in medical genetics and genomics. Ibrahim Elsharkawi and Jessica Priestley received the awards for their dedication to biochemical genetics, with support from Bionano Genomics, Spark Therapeutics, Takeda, Sanofi-Genzyme, and Pfizer.
Dr. Kushani Jayasinghe, a nephrologist and trainee in clinical genetics, received the 2022 Richard King Award for her article on genomic testing in patients with suspected monogenic kidney disease. The award recognizes high-quality research published in Genetics in Medicine by trainees.
Catherine A. Ziats, MD, received the David L. Rimoin Inspiring Excellence Award for her platform presentation on alterations in respiratory epithelial gene SPDEF and severe disease responses to COVID-19 infection. The award recognizes her contributions to advancing our understanding of host genetic factors associated with severe COVID-19.
The ACMG Foundation has awarded the 2021 Carolyn Mills Lovell Genetic Counselor Award to Adrienne Bailey and Renee S. Jones, acknowledging their exceptional work in genetic counseling. The award recognizes their platform presentations on innovative approaches to patient education and genetic testing.
Christina Tise, MD, PhD, and Daniel Pomerantz, MD, have been selected as recipients of the 2021 Pfizer/ACMG Foundation Next Generation Fellowship Awards to pursue postgraduate training in clinical laboratory biochemical genetics and medical biochemical genetics. The awards support their one-year fellowships at Stanford University and C...