Washington State Will Adopt World’s First Newborn Screening for Wilson Disease, Pioneered by Decades of Research From Seattle Children’s Doctor

For over 30 years, Dr. Sihoun Hahn, director of the Wilson Disease Center of Excellence and investigator at Seattle Children’s Research Institute, has pursued a mission to pioneer a newborn screening test for Wilson disease, a rare genetic disorder that causes copper buildup in the body, with the potential to harm the liver, brain, eyes, and other organs. This summer, his vision became reality when the Washington State Board of Health voted to include Wilson disease in its newborn screening program—the first of its kind in the world.

The board of health will still need to work with Washington state to get a budget to begin implementation of the screening, which could occur in 2026 or 2027. Once initiated, Dr. Hahn says the screening will be applied to all newborns in the state, generating around 160,000 samples every year.

Although copper accumulation for people with this condition begins at birth, symptoms do not appear until late childhood or early adolescence. By that time, patients often have serious, permanent effects, including liver failure or neurological deterioration.

“For decades, I have walked alongside patients and families living with Wilson disease, witnessing both their struggles and their resilience,” said Dr. Hahn. “To see newborn screening for Wilson disease become a reality is deeply personal and profoundly meaningful. It means that future generations will have the chance for early diagnosis, timely treatment, and the hope of a healthier life.”

Dr. Pamela Valentino, a hepatologist and the medical director of the Liver Transplant Program at Seattle Children’s, who sees patients with the condition with Dr. Hahn in the Biochemical Genetics Clinic, says that the new screening could help prevent acute liver failure, the need for a liver transplant and neurological complications that can be irreversible.

Hahn began caring for patients with Wilson disease as a fellow at the National Institutes of Health in 1990. While the disease is rare — affecting around 150 newborns in the United States each year — the patients Hahn treated left a lasting impression on him.

Hahn began studying the molecular biology of Wilson disease and discovered the disorder was caused by a genetic defect in the ATP7B gene. While this led to a better understanding of the disease, patients still weren’t being diagnosed until after they developed significant effects.

Hahn realized the best way to help children with Wilson disease was to detect it early. That’s when he began focusing his research on developing newborn screening.

Over more than 20 years, Hahn searched for a gene or protein that could be used to reliably identify Wilson disease. He first developed a test that identified ceruloplasmin, a protein made in the liver that carries copper to the bloodstream. But after screening thousands of newborn babies, Hahn realized the test resulted in too many false-positive results.

However, he persevered. Hahn knew Wilson disease was caused by mutations in the ATP7B gene, so his team developed a method of measuring ATP7B protein in dried blood spots from newborn babies’ heel pricks.

Most recently, Hahn concluded a pilot study with Washington state that screened over 30,000 newborns in the state.

This tireless work has created a foundation for early detection to occur; however, those who are diagnosed will still need access to expert care.

Seattle Children’s provides a multidisciplinary clinic that offers complete care, varying based on a child’s needs. Some options include clinical trials with new approaches, such as gene therapy to introduce a new gene into the body to help treat the disease, as well as experts in liver disease, neurologists, psychiatrists, dietitians, social workers, physical therapists and speech therapists.

Other states and countries are taking notice of Dr. Hahn’s work and hoping to adopt their own pilot studies, Hahn says. So far, he’s been in touch with 3-4 states and a handful of health departments in countries around the world about adopting small-scale pilot studies, including Spain, Italy and Costa Rica.

Dr. Hahn says his goal is to scale newborn screening to a national and global scale eventually.

As Dr. Hahn’s vision for global screening begins to take shape, the Wilson Disease Association, a non-profit organization dedicated to supporting people affected by Wilson disease, acknowledged Washington state’s milestone as a transformative moment in the fight against Wilson disease.

“We are deeply grateful to the Washington State Board of Health for recognizing the urgent need to add Wilson disease to the newborn screening panel,” said Alice Williams, communications director of the Wilson Disease Association and mother to two children with Wilson disease. “Early detection can mean the difference between a healthy future and life-threatening complications. This decision gives families hope, ensures children have the best chance at timely treatment, and moves us closer to a future where no child suffers needlessly from a delayed diagnosis.”

Note: Dr. Hahn serves as the Chief Medical Officer (CMO) of Key Proteo, Inc., a Seattle Children's spin-out company expanding newborn screening programs for rare genetic conditions. He is an inventor of intellectual property licensed to Key Proteo, Inc., the founder of the company, and holds ownership equity interests in it.