Genomic Testing of Infants Saves Lives, Fleisher Reports

Thomas A. Fleisher, MD, senior investigator at the National Institutes of Health Clinical Center, discussed promising improvements in genomic screening on March 1, 2014, during a special session on pediatric issues at the American Academy of Allergy, Asthma & Immunology, held in San Diego, California.

Fleisher said that genomic screening is leading to earlier and better treatments of immunologic disorders, including those caught early in newborns as a result of screening done at birth.

Fleisher discussed an assay of T-cell receptor excision circles (TREC), based on work in California, which initiated newborn screening for severe combined immunodeficiency (SCID) in 2010.

Fleisher said the results, published in July 2013, offer a glimpse of what could happen as this kind of screening becomes widely available.¹ Of nearly 1 million infants screened, 50 had significant T-cell lymphopenia; 15 required hematopoietic cell or thymus transplantation or gene therapy.

At the time of the study’s publication, the survival rate of this group was 93%. What’s more, the TREC test specificity was excellent, only 0.08% of infants required a second test, with 0.16% requiring lymphocyte phenotyping by using flow cytometry.¹ Having this information guides families and physicians, and it saves lives, he said. Infants who test positive for SCID, for example, do not receive the vaccine for rotavirus, based on a June 2011 advisory from the Centers for Disease Control and Prevention. Even before the announcement, Merck and GlaxoSmithKline, the makers of the RotaTeq and Rotarix, respectively, updated their labeling with approval from the US Food and Drug Administration to reflect the contraindication.²

“This shows that screening newborns is working,” Fleisher said of the California results. “Eighteen states now have routine screening for T-cell immunodeficiency,” which covers more than 50% of the infants born in the United States. As time goes on and data accumulate, he said, “We will understand more about the TREC results.”

Genomics will be “front and center” over the next 10 years, he said. Fleisher was among the speakers of the day who said a $1000 price tag to map an individual genome was “not far away.”

The use of genomics for personalized—and especially preventative—medicine will only increase. “There are 250 genes associated with immunology disorders and that number will grow,”

Fleisher said. For all the excitement, however, he cautioned that there are ethical concerns about storage and access of the information that must be addressed, in addition to the question of how much information is extracted about a newborn who has no say in how much information is gleaned from his or her genome.