Sanford Children's Genomic Medicine Consortium

Madison, WI

The American Family Children’s Hospital, the Division of Genetics and Metabolism, and the University of Wisconsin Center for Human Genomics and Precision Medicine have joined forces to advance our knowledge of medical genomics and use that knowledge to improve the health and well-being of children with birth defects and genetic disorders. Through our Undiagnosed Diseases Program’s novel approaches to genomic analysis and links to global gene discovery networks. we offer hope to those children affected by genetic diseases who have yet to receive a diagnosis.

Tucson, AZ

The University of Arizona College of Medicine – Tucson, Department of Pediatrics advances children's health through continuous learning, cutting-edge research, and compassionate patient care, with faculty across 13 clinical divisions practicing at Banner Children's at Diamond Children's Medical Center and conducting research through the Steele Children's Research Center. Faculty in the Division of Developmental Pediatrics care for children who are at risk for or diagnosed with a genetic, neurodevelopmental, or behavioral condition, providing comprehensive diagnostic and evaluative services throughout the community, alongside an active clinical research program in autism and other special needs. The Department is also home to the PANDA Core for Genomics and Microbiome Research, a CLIA-certified and CAP-accredited laboratory that supports both investigator-driven genomic and microbiome research and clinical diagnostic testing for patients.

Denver, CO

Children's Hospital Colorado's Clinical Genetics and Inherited Metabolic Diseases Program provides diagnosis and genetic counseling for children and adults with known or suspected inherited diseases. The Precision Medicine Institute supports individualized care for everyone through the system. We offer full in-house laboratory services, including a comprehensive biochemical genetics laboratory and mitochondrial functional testing. The Precision Diagnostics Lab offers genome sequencing, including rapid-turnaround “critical” genomes, and other molecular testing. We evaluate, diagnose and help treat children and families affected by sporadic and inherited genetic disorders, inborn errors of metabolism, birth defects or developmental delays.

Los Angeles, CA

At Children’s Hospital Los Angeles (CHLA), we create hope and build healthier futures. Located in Southern California, CHLA is recognized as one of the nation’s best children’s hospitals and the PCARE (Personalized Care) Program at CHLA leads the integration of genomic medicine into care for all children.  It provides test facilitation, including state-of-the-art genomic testing for the diagnosis of constitutional genetic disorders and cancer in CHLA’s Center for Personalized Medicine (CPM), supports application of results for all providers, integrates with rare disorder care by the Clinical and Biochemical Geneticists in the Medical Genetics Division, delivers genetic counseling to families and has implemented an enterprise-integrated pharmacogenomic program.

Minneapolis, MN

Children's Minnesota Genomic Medicine Program focuses exclusively on kids and uses the latest clinical advances in genomics to deliver optimal care. We specialize in diagnosis, evaluation and treatment of genetic conditions - from the common to the most complex and rare. As one of the largest genomic medicine programs in the region, we care for more than 3,000 children and adolescents each year. Our team includes three geneticists/biochemical geneticists and 12 genetic counselors. Our nationally recognized pharmacogenomics program is led by David Gregornik, PharmD. 

Palo Alto, CA

Stanford Medicine Children's Health is the largest healthcare system in the San Francisco Bay Area—and one of the few in the country—exclusively dedicated to pediatric and obstetric care. Our physicians and multidisciplinary care teams provide comprehensive services, from well-child care to advanced treatment for rare and complex conditions.

Our expertise in genetics and genomics helps patients and families identify, understand and manage inherited conditions. We provide genetic evaluation, counseling and testing along with personalized treatment and ongoing support. We offer patients and families access to new diagnostic platforms, clinical trials and emerging therapies. Lucile Packard Children’s Hospital Stanford has a network of more than 65 Bay Area locations and 85 locations across the Western United States.

 Miami, FL 

The Personalized Medicine Initiative at Nicklaus Children's Health System is one of the nation's first programs focused on precision and personalized medicine to support children's medical care, health and wellness. At Nicklaus Children's, we know that children are not just small adults and that every child and family deserves personalized care. The Personalized Medicine Initiative (PMI) involves a comprehensive approach to tailoring medical management to each specific child's individual characteristics, needs and preferences at all stages of care, including prevention, diagnosis, treatment and follow up.

San Diego, CA 

Rady Children's is the only hospital in the San Diego area dedicated exclusively to pediatric healthcare. It is the region’s only pediatric Level 1 trauma center and Level IV NICU. Clinical services span more than 35 pediatric subspecialties with 28 satellite locations across Southern California. The hospital provides care to pediatric patients from San Diego, Riverside and Imperial Counties, bringing access to care to a combined population of around 6 million people, including more than 90% of children in San Diego County.

In October 2025, U.S. News & World Report recognized Rady Children's among the best children's hospitals, including an honor roll designation for the top 10 Children’s Hospitals in the nation. In 2026, Rady Children’s Hospital and Institute for Genomic Medicine, in collaboration with UC San Diego, were named a National Organization for Rare Disorders (NORD) Center of Excellence.

Researchers at Rady Children's Institute for Genomic Medicine are committed to improving the lives of the most fragile children hospitalized in neonatal and pediatric intensive care units.

Fargo, ND, and Sioux Falls, SD

At Sanford Children’s, we are dedicated to helping every child thrive through expert, compassionate care close to home. Our nationally recognized pediatricians and specialists combine leading-edge treatments with groundbreaking research to advance the future of medicine for children everywhere. When a child faces a complex medical condition, families need more than exceptional care. They need a coordinated team they can trust. Through multidisciplinary clinics and specialized pediatric programs, our experts collaborate across more than 35 specialties to create personalized care plans that simplify the healthcare journey and support the whole family.

With more than 250 pediatric specialists, Sanford Children’s offers comprehensive care for children of all ages, from routine wellness visits to highly specialized treatment. Our commitment extends beyond the hospital and clinic walls through community programs, education, family resources, and partnerships that connect children and families with the support they need to live healthier lives. At Sanford Children’s, we go beyond expectations to provide the care, comfort, and hope every child deserves, today and for generations to come.

Seattle, WA

Seattle Children's has one of the largest programs in the United States with an international referral center offering state-of-the-art care for children with genetic conditions. Our team includes medical and biochemical genetics, genetic counseling, neurology, developmental and behavioral pediatrics and laboratory sciences. We host a world-class research program investigating the genetic basis of rare conditions, developing new testing and treatments, including participation in a wide variety of clinical trials.

Cape Town, South Africa

At Stellenbosch University, we use cutting-edge multi-omic technologies to solve the unsolved: giving individuals and families with rare diseases and cancer the molecular diagnoses that have eluded them. Our goal is to uncover the genetic causes of rare diseases across South and southern Africa, and to move genomics from research into everyday clinical care: a critical step towards delivering on the promise of precision medicine for the continent.

Dunedin, New Zealand

The Dunedin School of Medicine has a long history of academic excellence and contribution to health and health science education, research, service and outcomes. The School fosters a vibrant and active research culture and supports a diversity of researchers and research groups.