Imagine that you are a new mother, and you've just been told that a genetic screening test has revealed that your newborn has a greater-than-average risk of developing Type-I diabetes-the type that is likely to begin in childhood. Would you feel anxious? How would that anxiety affect your behavior?
Through research on the psychological and ethical issues surrounding newborn genetic screening programs, Florida State University (FSU) postdoctoral fellow Stacy Carmichael, PhD, works to answer these questions and others, such as whether you might exaggerate or minimize your baby's risks in the weeks and months after birth.
Research like this, she says, will grow more important in the future as scientists find genetic markers-and treatments-for more and more health conditions.
Indeed, notes Carmichael, scientific technology and know-how is driving the field. "The speed at which technology is developing completely outstrips our understanding of the ethical and psychosocial issues that come with it," she says. Suzanne Bennett Johnson, PhD, Carmichael's adviser and a professor in the department of medical humanities and social sciences at the FSU College of Medicine, adds that since most genetic testing has been done on adults, little is known about the psychological effects of childhood genetic testing.
For now, genetic screening of newborns is mainly done for research purposes, so that doctors can follow children with a particular genetic predisposition over time, Carmichael says. It's important that such research include psychologists, she adds: Researchers need to understand how parents react to the news of their child's genetic predisposition to a disease, because that reaction can affect whether children remain in the study.
And there's a possibility that infant genetic screening for particular genes might someday become routine, Carmichael says, if researchers discover a disease that has both a clearly identified genetic cause and a cure or treatment that needs to take place during childhood.
"There are so many questions testing raises," Carmichael says, "like the impact on family members' psychological state, behavior and risk communication. And, as the children age, it will be important to examine the impact on their own emotional status, self-esteem and health behaviors."
Carmichael's research in graduate school addressed several of these questions. She conducted her dissertation research as part of a National Institutes of Health-sponsored study called Prospective Assessment of Newborns for Diabetes Autoimmunity (PANDA). PANDA researchers have tested more than 4,000 newborns at several University of Florida-affiliated hospitals for specific genes-HLA-DQB1 allelles-that are associated with a higher-than-average risk of developing diabetes. The goal of the study is to follow children with the genes until age 15 to determine what environmental factors influence whether they eventually develop the disease.
Several published studies have come out of Carmichael's graduate-level PANDA research. In one, published in the journal Genetics in Medicine (Vol. 5, No. 2), she and her colleagues found that mothers are more likely to begin to underestimate their child's risk of diabetes as time goes by.
The researchers interviewed 435 mothers whose children were identified as having a moderate (approximately 2%), high (5-10%), or extremely high (20-25%) risk of developing diabetes. They talked to the mothers one month and three months after the mothers learned the screening results.
At the one-month interview, 73% of mothers remembered their child's risk level correctly, while 13% underestimated risk, 3% overestimated risk and 10% could not remember at all. Two months after that, however, only 62% remembered the correct estimate, and 24% underestimated risk. The results, Carmichael says, are consistent with previous studies of genetic testing on adults, which have shown that people tend to minimize risk as a coping mechanism.
In another study, published in the journal Diabetes Care (Vol. 27, No. 2), Carmichael and her colleagues found that most mothers of at-risk infants did not have elevated anxiety levels. However, some groups did-including Hispanic mothers, those with low levels of education and those with the highest-risk children.
For her dissertation, Carmichael investigated whether an intervention-a tailored risk information letter-alleviated mothers' anxiety. She also studied whether the letter improved their ability to accurately recall their child's risk levels and increased their willingness to continue participating in the PANDA study.
She found that mothers who received the letter were better able to recall their child's risk levels one month and three months later and were more likely to continue participating in the PANDA study, but were no more or less anxious than mothers who didn't receive the letter.
Carmichael's graduate-school research has sparked her long-term interest in the field. Right now, she and Johnson are collecting one-year follow-up data on the mothers who participated in their original PANDA studies. They hope to continue working on that project-which has now added several more American and European testing sites and has changed its name to TEDDY, or The Environmental Determinants of Diabetes in the Young-over its 15-year lifespan.
More research, Carmichael says, is crucial: "It's really important that we determine what types of risk notification strategies work best, and what kind of psychological support people need."