Sihoun Hahn, MD, Director of the Wilson Disease Center of Excellence at Seattle Children’s Research Institute, describes the steps necessary for conditions, such as Wilson disease, to be added to the recommended uniform screening panel (RUSP).
Wilson disease is a genetic disorder caused by mutations on the ATP7B gene. These mutations cause excessive copper to accumulate in the body, particularly in the liver and brain. Although the copper accumulation 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. Fortunately, the treatment for Wilson disease is quite simple – patients are typically given either chelating agents, such as trientine, or zinc salts.
Dr. Hahn has been studying Wilson disease for over 30 years which is what inspired him to develop a potential newborn screening test for this disease. The test is scheduled to be evaluated in a pilot study by the Washington State Department of Health by the end of the year. If the study is successful, Dr. Hahn’s test could soon be used to diagnose infants across the country with this life-threatening, but easily-treatable, disease. If approved, Dr. Hahn’s screening method could also be used to diagnose at least three other rare conditions — X-linked agammaglobulinemia, Wiskott-Aldrich syndrome and Adenosine deaminase deficiency.
As Dr. Hahn explains, the length of time required for conditions to be added to the RUSP depends on a number of factors. Some conditions take a few months to be added, others take several years. However, for a condition to be included on the RUSP, it must have both an approved screening test and an approved treatment. Because there is plenty of knowledge about Wilson disease and the treatment for it is cost-effective, Dr. Hahn is positive that, granted his newborn screening test being approved, Wilson disease would be swiftly added to the RUSP.
To learn more about Wilson disease and other rare genetic diseases, visit checkrare.com/diseases/congenital-and-genetic-conditions/
