A 25-year dream coming close to reality
By Alice Williams, WDA Communications Director

Since the 1960s, the United States has been doing newborn screening (NBS) for various diseases.

What is NBS? It’s a simple, quick heel prick test done when a baby is one to two days old. A small sample of dried blood is tested for a variety of genetic, endocrine and metabolic disorders.

NBS is considered a vital health care advance for children. Every year, approximately four million babies are born in the US. Globally, approximately 130-140 million babies are born who can benefit from this testing.

Confirmation of a disease or disorder means that babies can begin treatment before symptoms ever appear and the disease progresses, ensuring better health outcomes, including survival.

The disorders that are tested through newborn screening vary by state. This is also the case for many other countries around the world. If you’re curious about the diseases your state tests for, visit Baby’s First Test at www.babysfirsttest.org.

While each state can adopt its own NBS guidelines, the process for adopting new disorders or diseases is quite complex. Medical professionals and researchers may also propose new disorders for screening based on their expertise and research. Most states have advisory committees composed of medical experts, public health officials, parents, and other stakeholders. These committees review proposed disorders based on various qualification criteria. If the advisory committee recommends adding a disorder, the state health department must approve the addition. This often involves a review of scientific evidence, budget considerations, and potential impact on the newborn screening program.

Once a disorder is added to the state’s newborn screening panel, the health department must ensure that laboratories are equipped to perform the necessary tests, and that healthcare providers and families are informed about the new screening.

Another path to become a mandatory newborn screening is through The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) that recommends a core panel of conditions for states to screen for. While some states then automatically add those conditions to their existing screening panel when they are added to the Recommended Uniform Screening Panel (RUSP), some states make their own decision whether to adopt the updated RUSP list or not. Currently, there are 37 disorders on the RUSP list, plus screening for hearing loss.

Presently, no country tests for Wilson disease (WD) in newborns. And most parents have no knowledge of whether they are carriers of the defective ATP7B gene, unless they have an affected family member and undergo genetic screening. So, in most cases, WD is not detected until a person with the disease develops symptoms. It can take years of multiple visits to many doctors to get a diagnosis of Wilson disease, and then it might be too late for treatment to help.

Dr. Sihoun Hahn and his life ambition

That may soon change thanks to Dr. Sihoun Hahn, the director of the Wilson Disease Center of Excellence at Seattle Children’s Hospital and member of the WDA Medical Advisory Committee. Dr. Hahn has been treating children with Wilson disease since 1990 and is a clinical geneticist and a professor at University of Washington School of Medicine caring for young patients and their families.

While WD is rare, affecting approximately 150 newborns in the US each year, the patients Dr. Hahn treated left a lasting impression on him.

“It was very sad,” Dr. Hahn said. “These children seemed perfectly healthy and then suddenly they rapidly deteriorated. Many had permanent brain damage or needed liver transplants. Some had tremors, slurred speech or could not walk or swallow.”

Typically, most often the symptoms appear between age of 6 and 20 years but could begin later in life. The neurological symptoms usually start to present around late adolescence or early 20’s (although people can be diagnosed much younger or older) when the disease has progressed.

“If I could treat these patients much younger, the health outcomes and the burden of the disease could be so different. It’s been my dream to develop a test so we could identify newborns and start treatment much sooner,” says Dr. Hahn.

Dr. Hahn has been working on his screening test for WD for over 25 years. To date, he and his colleagues have tested over 30,000 newborns through a pilot project in the state of Washington, undertaken in partnership with the Washington Department of Health since 2022. Additional feasibility studies are underway, plus several additional international programs.

State of Washington is reviewing Key Proteo’s petition

In August this year, Dr. Hahn and Key Proteo presented a petition to add Wilson disease to Washington state’s newborn screening panel. Accompanying the detailed submission were 20 letters of support from members of the global Wilson disease community from organizations, physicians, patients and family members. The state is currently undertaking a technical review of Key Proteo’s submission. Fingers crossed that Washington state will be the first state to add Wilson disease to its newborn screening panel. Key Proteo is also exploring to submit the petitions to early adopting states such as Connecticut, Michigan, Missouri, and Pennsylvania.

What will it take to get newborn screening for WD introduced in every state?

Dr. Hahn has ambitious goals. He wants to make early detection of Wilson disease from a simple dry blood spot a reality, making it possible for every state in the U.S. to include Wilson disease in their newborn screening panels. Then, he would like to see his test used globally. Japan, China and many countries in Europe with huge populations are obvious candidates, though every country could benefit.

In order to commercialize his WD testing kit, Dr. Hahn started a company called Key Proteo, a spin-off company from University of Washington/Seattle Children’s Hospital. For the validation, he successfully worked with two additional clinical laboratories to ensure that in addition to his own lab, the testing methods can be replicated and produce the same outcomes

Newborn screening for WD will be a game changer for the Wilson disease community. While it’s not the news that any new parent wants to hear, having a baby with WD identified at birth allows treatment to begin sooner and hopefully save their liver and/or brain from years of copper toxicity and damage.

With newborn screening for Wilson disease, the anguish, pain and suffering that patients and their families experience as they navigate the healthcare system, often chasing a long and difficult diagnosis, and the potential of significant or irreversible liver and/or neurological damage to their loved one, could be spared.

We will keep our community updated on this exciting and important initiative.