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 Foundations (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 childs 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, Babys 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
www.primaryimmune.org/patients-and-families/idf-scid-initiative 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 21204 800-296-4433
www.primaryimmune.org 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):834-840.
2. DeLuca JM, Kearney MH, Norton SA, Arnold GL. Parents'
experiences of expanded newborn screening evaluations. Pediatrics.
2011; 128(1):53-61.
