SCID suggested for uniform newborn screening panel

Abstract

Testing would save lives and strain state budgets The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) has recommended that the Department of Health and Human Services (HHS) approve the addition of severe combined immunodeficiency (SCID) and related T-cell lymphocyte deficiencies to the committee's Recommended Uniform Screening Panel. The committee's February recommendation of SCID is the first since the committee was established in 2005 to promote more uniform state newborn screening policies based on its evidence-based review. HHS Secretary Kathleen Sebelius has until July 27 to confirm the recommendation. Both the ACHDNC recommendation and confirmation by Sebelius are still only suggestions, however, because only states have the authority to add SCID to screening panels, according to Michael S. Watson, PhD, Executive Director of the American College of Medical Genetics. “The only power [federal officials] ultimately have at present is that the Newborn Screening Saves Lives Act says that they can influence the distribution of Title V funds that support NBS programs if states don't follow what they recommend,” he notes. On a practical level, that means advocates for SCID newborn screening can use the recent ACHDNC recommendation to influence state legislators to add the disorder to state panels, says Jennifer Puck, MD, Professor of Pediatrics at the University of California, San Francisco. She nominated SCID to the committee, is part of a group that discovered the X-linked gene that causes half of all SCID cases, and developed a test for the disorder now used by 2 state newborn screening programs. In a February 25 letter to Sebelius, ACHDNC Chair R. Rodney Howell, MD, suggested adding SCID to the uniform panel, and adding related T-cell lymphocyte deficiencies to the list of secondary targets, with the understanding that certain steps will lead to an infrastructure for ongoing research, evaluation, surveillance, education, and training for screening for SCID and related T-cell lymphocyte deficiencies. Lymphocyte The ACMG is working toward fulfilling these goals, Dr. Watson says. ACMG has applied for funding to support the needed education and is preparing to set up meetings aimed at coordinating the efforts of the newborn screening labs and groups involved in protocols for diagnosis and follow-up. CDC plans to release quality assurance materials for SCID tests in the near future, he adds. It is time for universal newborn screening for SCID, Dr. Puck says. That is because SCID is now treatable with bone marrow transplants, enzyme replacement, and gene therapies. Babies who receive early treatment have better survival, less morbidity, and lower transplant costs than those diagnosed after subsequent infections, but more than 80% of infants with SCID are not identified in the preinfectious period in which they are still benefiting from their mother's antibodies, she adds. Screening would greatly reduce both this figure and the number of infants who have SCID-related infections that are difficult to distinguish from common problems such as ear infections, colds, or acid reflux. Currently, many babies with SCID are diagnosed at between 6 weeks and 3 months of age after serious infections from the rotovirus vaccine. Many others are diagnosed somewhat later, after they are on ventilators or suffer the severe diarrhea that is typical of SCID, says Dr. Puck. Widespread newborn screening for SCID will also enable more research aimed at developing the best treatments for SCID and other immune system disorders. “Now, we don't have enough affected babies in one place to develop the best treatments each genetic type of SCID, but screening plus NIH's rare disease network would go a long way toward that goal,” Dr. Puck explains. Wisconsin was the first state to start newborn screening for SCID in 2008, followed by Massachusetts. At ACHDNC's February meeting, representatives of those state newborn screening programs said that, as of January 2010, they had together screened about 139,000 infants at a cost of less than $6 per test. Bone marrow transplants to reverse SCID are expensive, but cost less if done early, Rebecca Buckley, MD, Professor of Pediatrics and Immunology at Duke University in Durham, North Carolina, said during the meeting. A transplant done by age 3.5 months costs $50,000, but at 6 months, the mean age of transplant, that figure rises to over $1 million, she pointed out. State health departments may be torn between their desire to help more infants by implementing SCID screening and the need to maintain current programs during a period marked by budget crises. State health departments may be torn between their desire to help more infants by implementing SCID screening and the need to maintain current programs during a period marked by budget crises. During the meeting, Sylvia Au, of the Hawaii Department of Public Health, said her department, which in the mid-1990s tested for only 2 disorders, now screens for 32 conditions despite 2 furlough days a month. The department, like others in many other financially strapped states, has a hiring freeze. Adding SCID testing would present tremendous financial and practical problems, Au said. “You have to be careful for the states that actually do more than we're required to do,” she warned, explaining that she hopes pressure to do more does not harm the work her program currently does.