Researchers will spend $25 million in federal funds over the next five years assessing the effectiveness and ethical implications of making genetic testing of newborns a new delivery room standard.
Launched by the National Institutes of Health last month, the study will be divided into four projects at the University of California, San Francisco, Brigham and Women’s Hospital in Boston, Mass., Children’s Mercy Hospital in Kansas City, Mo., and the University of North Carolina at Chapel Hill.
Should genetic testing become standard, it will build upon routine blood testing of newborns. The blood testing was introduced in the 1960s as a way for parents to learn if their infants have any conditions that can be banished if treated early on, including several developmental delays.
But the answers held in blood testing are limited, say researchers, and there is a higher possibility for false positives.
“Genomic sequencing has the potential to diagnose a vast array of disorders and conditions at the very start of life,” Alan E. Guttmacher, director of the National Institute of Child Health and Human Development, said in a press release. But he also emphasized the importance of weighing the moral implications of letting parents in on conditions their children might develop later in life.
“The ability to decipher an individual’s genetic code rapidly also brings with it a host of clinical and ethical issues, which is why it is important that this program explores the trio of technical, clinical and ethical aspects of genomics research in the newborn period,” he said.
Some scientists worry such early health forecasts, especially for untreatable or unpreventable conditions, might negatively influence how children are parented.
“I think there’s actually greater harm than good to be telling parents that a child has a three- or four-fold increased risk for a late-onset disorder for which we currently have no therapy,” UCSF geneticist Bob Nussbaum told KQED, citing Alzheimer’s disease as an example.
Nussbaum cautioned that parents of children flagged for later health risks “are perhaps afraid to institute the same level of discipline. They may treat one of those children differently than the siblings. You’ve introduced a psychological issue.”
To evaluate the ethics in genetic testing, bioethicists will evaluate participating parents’ willingness to be informed of health risks their children are likely to face later in life.
Study participant Holly Sloan, a nurse in Virginia, told the Star Tribune that the possibility of implementing effective lifestyle changes for her daughter early on made the study worth the risks.
"If it was something that we could hopefully prevent through diet or exercise or some kind of lifestyle change, we could start with that as early as possible," she said. "I guess I'm just the type of person, I would rather know and address it."
Parents already have the opportunity to have genetic tests done through private companies. 23andMe employee Catherine Afarian purchased one of the DNA-analysis company’s tests for her son, and discovered he had an increased risk for Parkinson’s Disease. With that knowledge, she says she plans to pay special attention to Parkinson’s studies and donate money to Parkinson’s research.