‘It was scary and it was overwhelming’
Knowing the future may steer some from baby gene study
Alyssa Garcia had just given birth to a healthy 10-pound baby boy — a welcome bit of bliss after losing her father to heart problems two months earlier.
But when she received the results of a DNA analysis, her elation turned into anxiety: deep within the twists of her baby’s genetic material lurked a mutation that could lead to a potentially deadly heart defect.
“It was scary and it was overwhelming,” said Garcia, 34, of Middleboro. “You’re in this euphoric phase, and then all of a sudden it’s a sinking feeling, kind of like a twist in a movie.”
The feeling Garcia describes is one of the obstacles researchers at Brigham and Women’s Hospital face as they try to recruit patients for the BabySeq Project, their ongoing genome sequencing study, which has received the OK from only 8 percent of the 2,500 potential participants.
Garcia’s son, Kai — now 1 year old — has been tested and is not yet presenting with supravalvular aortic stenosis, which causes the narrowing of a major blood vessel in the heart. He may never develop it.
But the Garcias will always know there is a possibility. Some who opt out of the study worry about this uneasy gray area; the risk of needlessly fretting over a condition that may never manifest.
Others have privacy concerns about their child’s genomic data and fear insurance discrimination if a condition is discovered.
“These are startling barriers,” said Dr. Robert Green. “It really brings home how pervasive these concerns are when thinking about genetic testing.”
But the glass-half-full take is that the baby will have a book of life to inform future diagnoses and treatments, Green said.
Among the roughly 200 genome sequences are discoveries that provide more concrete insight, like the BRCA 2 gene, which significantly increases the risk for breast cancer and warrants careful monitoring.
Lauren Stetson’s baby daughter, Cora, carries a recessive gene for biotinidase deficiency — a disorder that can cause symptoms including breathing problems, vision and hearing loss and seizures.
A simple vitamin supplement can stave off the condition, so the Stetsons were able to start treatment before any symptoms occurred.
“It could have caused developmental delays that are irreversible,” said Stetson, 29, of Melrose, “She could have been all of a sudden not speaking as well as she should have been, and we wouldn’t have known why.”
The study, funded by the National Institutes of Health, started two years ago and is scheduled to continue for another year and a half.
The next step for researchers is developing a narrower list of genes with the most significance to provide more useful results, which they have already started.
“If we can’t recruit people into these research studies,” Green said, “how are we going to figure out the clinical utility of this?”