Marcia Frellick

September 26, 2016

BARCELONA, Spain — The screening of newborns for severe combined immunodeficiency disease (SCID) is now required in 41 states, and several organizations are pushing for the remaining states to make it mandatory.

But there is some reluctance. "The test costs $3 or so per infant, even with no repeat tests, and the states have to pay for it," said Charlotte Cunningham-Rundles, MD, the David S. Gottesman Professor of Immunology at the Mount Sinai School of Medicine in New York City.

And then there is a need for local expertise to test infants who have an abnormal result, which means immunologists must be made available, she told Medscape Medical News.

Campaigns in the United States and other countries to increase the use of the T-cell receptor excision circle (TREC) test, which uses blood from a heel stick to identify SCID in newborns, were highlighted here at the European Society for Immunodeficiencies 2016 Biennial Meeting.

"SCID has been characterized in the medical community as a pediatric emergency," according to the Immune Deficiency Foundation, which has been campaigning for a nationwide mandatory test.

"If a baby with SCID receives a bone marrow transplant in the first 3.5 months of life, the survival rate can be as high as 94%," the foundation reports. "However, the survival rate drops to less than 70% for infants who are transplanted after that age."

Although screening was first used in the United States in 2008, states decide individually whether to add SCID to the core panel of diseases for newborn screening.

 
We actually didn't know the frequency before we started screening.
 

But several states are poised to add the screening before the end of the year, said Jennifer Puck, MD, professor of pediatrics at the University of California, San Francisco School of Medicine, who is a pioneer of the TREC test.

SCID is extremely rare and the test is helping clarify its prevalence.

"We actually didn't know the frequency before we started screening," she told Medscape Medical News. Babies could have died before being diagnosed, she explained.

In a 2014 study, the overall incidence in the United States was estimated to be 1 in 58,000 births (JAMA. 2014;312:729-738). This is almost double the previous estimate of 1 in 100,000 babies, as reported by Medscape Medical News.

The disease is also called 'bubble boy disease," a reference to David Vetter, a widely chronicled Texas boy born in 1971 who lived in a sterile plastic enclosure until he died at age 12. His older sibling had previously died from infectious complications of the disease.

"What we would love to do," said Dr Puck, "is extend the ability to do an early diagnosis beyond those who have an affected relative, and bring this to the entire population."

This wish is echoed in Europe, where clinical leaders in several countries are urging their governing health bodies to require SCID screening in newborns.

Success in Israel

In Israel, a country with 180,000 newborns annually, a nationwide testing program began last year. In the past 10 months, 107,000 newborn screenings were completed, said Raz Somech, MD, PhD, from the Sheba Medical Center at Tel Hashomer in Tel Aviv.

The first test was abnormal for 500 newborns; of these, 36 were referred for validation after a second test. So far, seven infants have been diagnosed with SCID, Dr Somech reported.

The detection of SCID is critical in countries such as Israel that have high rates of consanguineous marriages, which heighten risk for the disease.

A close collaboration among Israeli physicians helped convince the Ministry of Health to approve the nationwide testing, Dr Somech explained.

"Newborn screening has allowed us to make an early diagnosis and improve outcomes," he said.

Already, he reported, they have found more cases of SCID than they expected, and have discovered other conditions with T-cell lymphopenia.

Dr Cunningham-Rundles, Dr Puck, and Dr Somech have disclosed no relevant financial relationships.

European Society for Immunodeficiencies (ESID) 2016 Biennial Meeting: Abstract PAR04. Presented September 22, 2016.

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