Every baby is subjected to the standard newborn screening test, the one given right after birth with a quick stick to the heel. States create their own screening panel, with most testing for about 30 conditions, including blood disorders such sickle cell anemia, metabolic disorders and endocrine disorders such as hypothyroidism.
But the screening panel fails to test for plenty of serious diseases—even though such tests are available—which means babies may not be getting the treatment they need. In a new book excerpted in Scientific American, author Bonnie Rochman shares the story of mom Jennifer Garcia, whose son Cameron was born with severe combined immunodeficiency (more commonly known as SCID or “bubble boy disease”).
Although testing for SCID is available, Cameron wasn’t diagnosed with the disease until it was too late—he died at nine months after contracting pneumonia and never recovering. If he had been tested at birth, a bone marrow transplant could have saved his life. Adding insult to injury, Cameron was born just one month after SCID had been added to the national list of recommended newborn-screening conditions, according to Rochman. (It would take another two years for Garcia’s home state of Texas to include SCID in its screening panel.)
Currently, the process of adding new diseases to a state’s standard screening panel is ineffective and time-consuming. But in the not so distant future, it’s possible that a single test could screen babies for countless diseases, Rochman writes in "The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids and The Kids We Have." The National Institutes of Health is spearheading research into the medical, economic and ethical implications of using genome sequencing to map out babies' genetic code.
“There are obvious benefits,” writes Rochman. “Far more children who are at risk could be identified, allowing earlier treatment for someone whose life, like Cameron Garcia's, hinged on early detection.”
On the flipside, the results might be unclear, revealing what Rochman calls “genetic missteps called variants of uncertain insignificance.” In these cases, moms and dads will be forced to deal with the anxiety of not knowing whether the results indicate a serious problem or are “simply a string of DNA gobbledygook.”
Still, it seems that given the choice, most parents would opt to sequence their baby’s DNA. Researchers found that even when parents were made aware of the kind of information genome sequencing would generate (including cancer risk and a predisposition for later-in-life diseases like Parkinson’s), their interest in the testing didn’t waver.
“This suggests there is a gigantic appetite out there for this, even in healthy babies,” geneticist Robert C. Green told Scientific American. “It is going to be hard to resist.”