All 50 states now screening newborns for severe combined immunodeficiency (SCID)

Beginning December 10, 2018, all children born in the United States will be tested for severe combined immunodeficiency (SCID), a life-threatening disorder and one of the most severe forms of primary immunodeficiency (PI). Louisiana was the 50^th state to officially screen newborns for SCID beginning this December.

For more than 10 years, IDF, along with dedicated volunteers and partner organizations, has worked to implement universal screening for SCID in the U.S., making sure all babies have a chance at a healthy, happy life.

“Reflecting on this significant milestone of bringing SCID screening to all 50 states, there are two groups of people that come to mind,” said John G. Boyle, President & CEO of the Immune Deficiency Foundation. “The first is the families affected by SCID, medical professionals, legislators, public health professionals, and nonprofit organizations who all worked together to achieve a goal that seemed nearly impossible a decade ago. We are grateful for their dedication and hard work. The second group that comes to mind is the young people with SCID, many of them are now children as old as 8 or 10 years of age, who are alive and thriving because screening was brought to their state. That is the most striking and important element of this achievement.”

Wisconsin was the first state to test for SCID beginning in 2008. In 2010, the Department of Health and Human Services (HHS) announced the addition of SCID to the recommended uniform screening. Other states soon began following Wisconsin's lead.

State by state, IDF worked with local organizations, legislators, and statewide public health officials to break down the barriers and add SCID to the newborn screening panel in each state.

“It is gratifying to see all 50 states now testing for SCID, but the challenge does not end with universal testing,” said John M. Routes, MD, Section Head, Allergy/Clinical Immunology, Medical College of Wisconsin/Children's Hospital of Wisconsin, a pioneering advocate for SCID newborn screening and a member of the IDF Medical Advisory Committee. “Many infants who test positive for SCID face a challenging road to a firm diagnosis and successful treatment. I am proud to be working with IDF to help ensure clinicians and patients throughout the U.S. get the resources they need.”

Supporting screening, filling gaps in successful care

IDF recently began work under a grant from the Health Resources and Services Administration (HRSA) to launch a two-year program—SCID Compass—to improve outcomes for infants with SCID detected through newborn screening. The SCID Compass program is designed to increase awareness and knowledge about SCID, support state newborn screening programs, link families, especially those living in medically underserved areas, to services, and develop long-term follow-up strategies for infants identified through newborn screening.

“The screening of every child born in the U.S. will undoubtedly save lives, but there is more work to do,” said Heather Smith, President and Co-Founder of SCID Angels for Life Foundation. “SCID Compass will help families navigate through detection and diagnosis to treatment and life management. The program will connect families whose babies test positive for SCID with the resources, information, and support they need during an extremely challenging time.”

As SCID newborn screening has increased in volume across the country, it has also demonstrated an increased prevalence of SCID. When screening first began in 2008, it was believed roughly 1 in 100,000 newborns would test positive for the disease. At present, the estimated incidence of SCID has increased to 1 in every 40,000 newborns.

About SCID

SCID is a potentially fatal primary immunodeficiency in which there is combined absence of T lymphocyte and B lymphocyte function. There are at least 13 different genetic defects that can cause SCID. These defects lead to extreme susceptibility to very serious infections. This condition is generally considered to be the most serious of the primary immunodeficiencies. Fortunately, effective therapies, such as hematopoietic stem cell transplantation, enzyme replacement therapy, and gene therapy, exist that can treat the disorder.

In the 1970s and early 1980s, many around the world first heard of SCID when a Texas boy, David Vetter, affectionately known as the boy in the bubble, was born with the disorder and lived in protected environments to maintain relatively germ-free surroundings. While David tragically passed away at the age of 12, his life was a catalyst for the improvement of SCID treatment and more widespread testing.

“David’s life was a great blessing to our family and the world,” said his mother Carol Ann Demaret. “As time passes, there will be fewer and fewer people who recall the specific details of his too-brief life, but his legacy will live on in the lives of children who benefit from the nationwide adoption of screening and continual advancements in treatment for this terrible disease.”