For an example of the impact of pediatric research, look no further than clinician scientist Diana W. Bianchi, M.D., whose work on noninvasive prenatal testing for genetic conditions like Down syndrome has transformed prenatal care.
The blood test using fetal and placental DNA sequencing has become the fastest growing genetic test in history, with millions of prenatal screening assays performed worldwide. The availability of the test, Dr. Bianchi said, means there is now a generation of obstetrics-gynecology residents who’ve never done an amniocentesis.
“The screening is so good that it has sharply reduced the need for diagnostic procedures,” said Dr. Bianchi, director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), part of the National Institutes of Health (NIH).
Dr. Bianchi will give the keynote speech “A pediatric career — from the personal to the global” at the AAP Presidential Plenary May 6 during the Pediatric Academic Societies (PAS) meeting in Toronto. One of the messages she will deliver to researchers is the importance of resilience and persistence, traits she cultivated throughout her career, including at Stanford University School of Medicine, where her fetal research began.
“The whole search for the isolation of fetal cells in maternal blood for prenatal testing — there was a lot of initial disappointment there because we realized we were getting close but were never close enough to really translate our findings to clinical care,” Dr. Bianchi recalled. “That search took many years, but what turned it around was a change in the focus to circulating cell-free DNA and a major leap in technology. We had everything in place, but we needed commercially available and affordable DNA sequencing to really make the leap to clinical care.”
Eventually, when noninvasive prenatal screening for genetic conditions became clinically available, “it didn’t just translate to care, it transformed care,” she noted.
A former professor of pediatrics and obstetrics and gynecology at Tufts University School of Medicine, Dr. Bianchi founded the Mother Infant Research Institute at Tufts Medical Center. She is a graduate of the Stanford University School of Medicine, which honored her with a lifetime achievement award last year. Dr. Bianchi did postgraduate training in pediatrics, medical genetics and neonatal-perinatal medicine at Boston Children’s Hospital and Harvard Medical School, and she is board-certified in those fields.
Besides her role at NICHD, Dr. Bianchi is an investigator at NIH’s National Human Genome Research Institute. Her work also involves using information from fetal gene expression to develop novel fetal therapies for genetic disorders like Down syndrome.
Dr. Bianchi said tremendous opportunities in research are available, with possibilities for globalhealth research even more exciting.
“When you’re a physician, you’re basically treating one person or one family at a time,” she said. “When you do research, you have a larger impact. And when you do global research, the sky is the limit.”