Newborn Screening for Severe Combined Immune Deficiency (SCID) Follow-Up Educational Resources for Parents Methodology As states continue to recognize the importance and value of newborn screening for SCID and more states begin the process of implementation for this testing, there is a need to develop systems to educate and communicate next steps to families. This includes education on next steps for families following a positive TREC test result and next steps for families following a definitive diagnosis of SCID. The American College of Medical Genetics (ACMG) routinely produces ACTion Sheets to provide information to physicians regarding next steps after an abnormal newborn screening result. However, there is no such standardized and widely available resource for families. As a result of the Immune Deficiency Foundation’s (IDF) work for universal SCID newborn screening, it has become clear that there is a gap in the practical educational materials for parents and families to use after they have received a positive screen and after a diagnosis is made. Little information is available to families about these conditions, making families vulnerable to misinformation. Research from the University of Rochester published in the July 2011 edition of Pediatrics evaluated the parent experience of newborn screening. This article concluded that receiving an abnormal screening result was highly stressful for parents and that improvement in communications and services are needed to reduce parents’ distress. 2 Parents who receive a notification that their newborn has an abnormal screening result without further information are likely to be confused and scared. Especially if the screening is for a condition of which they were not previously aware or only vaguely recall in relation to stories of the “bubble boy disease,” assuming the worst for the quality of life of their newborn child. SCID is a primary immunodeficiency disease where affected infants lack T lymphocytes. Babies with SCID appear healthy at birth, but without early treatment, these infants cannot survive. Babies with SCID who receive a bone marrow transplant in the first 3.5 months of life have a survival rate of about 94 percent. The survival rate drops to less than 70 percent for infants who are transplanted later. 1 Earlier treatment, before the onset of serious infections, offers children the chance at living normal and healthy lives with fewer incidence of future serious healthcare needs. On May 21, 2010, HHS Secretary Sebelius concurred with the Advisory Committee on Heritable Disorders in Newborns and Children and added SCID as a core condition and related T cell lymphopenias as secondary conditions to the Recommended Uniform Screening Panel, endorsing both as a national standard. Currently, California, Colorado, Connecticut, Delaware, Florida, Massachusetts, Michigan, Minnesota, Mississippi, New York, Texas, Wisconsin, the Navajo Nation and selected hospitals in Pennsylvania are screening all infants for SCID. Problems BackgroundConclusions Methods The Immune Deficiency Foundation, with experts in the field of immunology and newborn screening, developed and is distributing educational materials for (1) parents who receive an abnormal TREC result and (2) parents who receive a definitive diagnosis of SCID. These educational materials that can be utilized by all states for these parents not only assuage their fears by educating parents about the disease and next steps, but also provide resources for more detailed information on the disease. They also emphasize the importance of follow- up evaluation in order to receive a definitive diagnosis and prepare for appropriate treatment. The educational piece for families who receive a definitive diagnosis further informs parents about the specifics of their child’s condition and what to anticipate for the future. IDF intends for these materials to be the first information that families read after receiving an abnormal test result and after receiving a definitive diagnosis. IDF is working with states as they begin the process of implementation to ensure that they are aware of and have access to the materials. IDF expects that these pieces will be increasingly utilized by states as they begin SCID screening – which will likely occur in all states throughout the country in the next several years following the recommendation of the HHS Secretary – as uniform educational tools much like the ACMG ACT Sheets are for physicians. Results The materials are currently available as resources from such websites as the Newborn Screening Translation Research Network, Baby’s First Test, Save Babies through Screening Foundation, SCID Angels for Life Foundation, and SCID.net. In addition, educational materials have been sent to states that have begun screening newborns for SCID or are in the process of implementation. At this point, Connecticut, Delaware, Florida, and Iowa are utilizing the materials as part of their follow-up protocols. The Guides have been widely accepted as helpful resources throughout the newborn screening community. In addition to their wider distribution to states and newborn screening specific website, they are featured prominently throughout the IDF website and social media and have been downloaded and viewed hundreds of times. The enthusiasm with which these resources have been accepted by states and the newborn screening community speaks to the true need that these resources have filled. As more states begin screening for SCID, this resource will likely continue to be utilized in larger numbers by more states and individuals. Use of these materials will effectively educate parents and inform them of next steps that will ultimately result in a more timely diagnosis, more effective treatment, and a higher quality of life for their children. Despite the availability of resources, IDF has heard anecdotally that parents are not always receiving information in a timely manner, creating additional stress and uncertainty. States need to work closely with IDF and the medical community to ensure that resources get in the hands of the families who need them. Pilots/Screening in 2013Selected PopulationsNo ScreeningScreening The IDF SCID Initiative was established as a project dedicated to address the acute need for a program for Severe Combined Immune Deficiency (SCID) education, awareness, and diagnosis 40 West Chesapeake Avenue, Suite 308, Towson, Maryland References 1. Railey MD, Lokhnygina Y, Buckley RH. Long-term Clinical Outcome of Patients with Severe Combined Immunodeficiency Who Received Related Donor Bone Marrow Transplants without Pretransplant Chemotherapy or Post-transplant GVHD Prophylaxis. The Journal of Pediatrics. 2009; 155(6): DeLuca JM, Kearney MH, Norton SA, Arnold GL. Parents' experiences of expanded newborn screening evaluations. Pediatrics. 2011; 128(1):53-61.