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
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.”