Improving Early Detection
Dr. Sihoun Hahn is working to expand Washington state’s newborn screening program — and to develop new diagnostic tests.
A drop of blood can save a child’s life. That’s all it takes to screen newborns for dozens of dangerous — but highly treatable — inherited metabolic disorders.
“The goal is prevention,” says Dr. Sihoun Hahn, director of the Biochemical Genetics Program at Children’s. “These children can lead healthy and normal lives if we detect the disorders early enough to provide effective treatment.”
The problem is that many disorders remain beyond the current scope of screening. Since coming to Children’s last year from the Mayo Clinic in Minnesota, Hahn has led the hospital’s push to expand newborn screening in Washington state, worked on new tests to diagnose more disorders and built a model biochemical genetics team to serve greater numbers of patients.
Like all states, Washington requires newborns to be screened for a number of disorders. Before babies leave the hospital, their heels are pricked and several drops of blood are collected on filter paper. The blood then goes to a state lab, which looks for metabolic abnormalities associated with various conditions.
The difference is that Washington currently screens for only 12 disorders — fewer than many other states. But that could change as soon as next year. Hahn represented Children’s on a Washington State Department of Health technical advisory committee that looked at 16 additional disorders that may be added to the screening program.
Genetic Mutations
Caused by genetic mutations that disrupt a baby’s metabolism, these disorders allow toxins to accumulate and/or prevent the processing of essential nutrients. Though rare, these inherited metabolic disorders can be devastating if left untreated, causing slow growth, blindness, brain damage and even death.
Early screening is vital because the disorders typically exhibit no outward signs. The sooner children are diagnosed, the sooner their diets can be modified and they can begin taking supplements to stop the disorders from causing permanent damage.
Screening is just the first step, though. If screening produces an abnormal result, the Children’s biochemical genetics team provides the clinical exam and sophisticated molecular and genetic tests required to confirm the diagnosis for children throughout Washington. “We are the experts and have the only biochemical genetics lab and clinic in the state,” says Hahn.
When Hahn recruits two new biochemical geneticists, Children’s will have the largest program in the country that combines clinical and laboratory components — they are typically separate — and the only one in the Pacific Northwest that provides a one-stop experience for patients.
“Test results can be complicated and it’s very important that the clinic and the lab work together as one team to ensure a timely diagnosis and proper follow-up care,” says Hahn. “Our goal is for Children’s to become the medical home for patients with inherited metabolic disorders from throughout the state.”
Learn more about about Genetics at Seattle Children’s.