The Centers for Disease Control and Prevention announced on April 1 the availability of funding opportunities to expand newborn screening for severe combined immunodeficiency, also known as SCID.
Currently, only 12 states regularly test for SCID as part of their newborn screening programs. With the availability of a highly specific and low-cost test that measures a biomarker for a T-cell deficiency associated with SCID that can easily be added to current routine newborn screening, patient advocacy groups as well as state and federal governments are working to spur more widespread adoption of newborn SCID screening.
"Severe combined immunodeficiency is a pediatric emergency," medical geneticist Amy Brower, Ph.D., said at the NYU Annual Pediatric Rheumatology Update. "We need to get the message out to pediatricians and ob.gyns. that talking about newborn screening should begin prenatally. ... Unfortunately, surveys find that ob.gyns. do not have time for that conversation, and parents don’t remember it. We want physicians to know that there is a new test for SCID that has been vetted, is evidence based, and is available that can identify children before they become gravely ill."
Dr. Brower also suggests that parents should be made aware that even if their state does not offer SCID screening, they can request to have a newborn dried blood spot sample sent to a commercial lab for SCID analysis.
SCID is known colloquially as "bubble boy syndrome" because poor immune systems make these children vulnerable to infections. While babies born with SCID appear normal at birth, they stand a high risk of developing life-threatening viral, bacterial, and fungal infections. Right after birth, they are still protected by transplacentally derived maternal IgG antibodies, but soon lose that protection. If the condition is detected early and treated, survival rates are excellent. If treated before 3.5 months of age, 95% of affected babies will have long-term survival, but the survival rate falls below 70% if SCID is diagnosed after 3.5 months, even with intensive care and intervention (Public Health Rep. 2010;125:88-95).
Treatments include hematopoietic cell transplantation, enzyme replacement in cases of adenosine deaminase (ADA) deficiency, and gene therapy.
"Newborn screening for SCID is cost-effective, leads to years of productive life, and prevents the real negative outcomes associated with having one of this group of conditions," said Michael Watson, Ph.D., director of the American College of Medical Genetics and Genomics (ACMG) and principal investigator of the Newborn Screening Translational Research Network (NBSTRN). "Bone marrow transplant costs about $50,000-plus, but when these babies start getting infections and need hospitalization, the costs can be $1 to 1.2 million."
Using an estimated cost of SCID screening of $7.10 per baby, a medical model developed by the Washington State Department of Health reported a potential benefit:cost ratio of 4.93, meaning that almost $5 in benefits would accrue from every dollar of costs to provide SCID screening (Thompson JD, Glass M. Guide to the newborn screening cost-benefit model for adding severe combined immunodeficiency, 2012).
In January 2010, the U.S. Secretary of Health and Human Services approved SCID as the 30th core condition of the Recommended Uniform Screening Panel and the first immunological disorder. In May 2010, HHS Secretary Kathleen Sebelius endorsed newborn screening for SCID as the standard of care. However, there has been a wide disparity of adoption among states. "Currently no states are doing all newborn screening recommended by the secretary of HHS’s Advisory Committee, which now consists of 31 core conditions, including SCID and congenital heart screening," said Dr. Brower, project manager for the NBSTRN.
States that have screening programs in place for SCID are California, Colorado, Connecticut, Delaware, Florida, Massachusetts, Michigan, Minnesota, Mississippi, New York, Texas, and Wisconsin (also Puerto Rico).
Figure 1 from the NBSTRN shows the estimated number of newborns screened throughout the United States up until Dec. 31, 2012. Screening in the small area of New Mexico and Arizona reflects the high rate of SCID in Navajo Native Americans: In 2012, about 45% of all newborns were screened for SCID, and the hope is to reach 65% by 2014, Dr. Brower said at the meeting sponsored by New York University.
The Centers for Disease Control and Prevention (CDC) has been instrumental in trying to expand SCID newborn screening capability to more states, and contributed funding to pilot projects in Massachusetts and Wisconsin. The new CDC program is known as the Program to Support New Implementation of State or Territorial Public Health Laboratory Capacity for Newborn Bloodspot Screening of Severe Combined Immunodeficiency (SCID). Eligibility is restricted to states, special districts, and territorial governments that do not currently conduct SCID newborn screening. The total funds available are $1.8 million and it is anticipated that three awards will be made of $300,000 each year for 2 years. The application deadline is May 28, 2013, for funding that can begin on Aug. 1.