More doctors are seeing the value that genomics can provide. And it's not just infants who can benefit; as the testing expands, it may improve diagnosis and treatment of adults as well. "I would love to see genomic sequencing used more often," says Dr. Jeffrey Innis, a pediatric geneticist at the University of Michigan. Standing in the way are not just concerns about the practicality of genetic testing but also the cost. No insurers currently reimburse the expensive test.
But Stephen Kingsmore's strategy is to change the cost-benefit equation by proving through his studies that genetic sequencing for the sickest babies will save money in the long term, sparing them the expensive and lengthy medical care they will need if they remain undiagnosed or are treated with the wrong therapies. He estimates that genetic testing could save about $1 billion in annual NICU costs across the country.
For parents of babies who have benefited from the testing, it's obviously priceless. "There is a reason why things happen," says Pascual. "I think Sebastiana is here to educate our entire family to grow together and understand the basic blessing of life and to never forget it. She is a miracle.
