Bench to Bedside: First Steps
Putting patients and families first by helping parents understand the newborn screening system
In 1961, Robert Guthrie, M.D., Ph.D., developed a laboratory test using one drop of blood to screen newborns for the genetic disorder phenylketonuria, or PKU. If untreated, PKU prevents the body from processing a protein found in almost all food, causing severe mental retardation. Guthrie’s efforts ignited a world-wide newborn genetic testing campaign. Now, every state requires newborn PKU screening and that single drop of blood can be used to identify more than 40 conditions. While technology has progressed, communication about these tests has lagged behind. That’s where the U-M comes in.
Beth Tarini, M.D., a clinical lecturer and member of the Child Health Evaluation and Research Unit, uses her research to foster discussion with other areas about the experiences of parents during the newborn screening process.
How the system works today
In most states, public health departments are charged with overseeing the initial screening and notification processes. Historically, there has been less focus on the experiences of parents and physicians after this notification process—when infants must undergo a number of additional tests to determine if the initial testing was accurate. With the expansion of the number of disorders tested, many in the public health and medical professions ask: How can we work to ensure that families understand the implications of the testing that follows the initial screening? How can we ensure that they receive appropriate and timely care, and that they have the resources to see that the care is given?
U-M: Collaboration to foster understanding
Tarini is just beginning a research project to find ways to optimize communication among Michigan public health departments, physicians and parents when a positive screening test indicates further testing is needed.
Tarini hopes this research will eventually be used to improve parental understanding of the newborn screening process, which has become increasingly complex in recent years. Currently, she says, the technology and ability to identify conditions often outpace our understanding of treatment and prognosis for these infants. This situation opens the door for misunderstandings among health care professionals and anxious parents who must consider further tests and treatments for the infant.
“When we call parents, they often want to know three things in that immediate period: ‘Is my child going to die early? Will my child suffer or be in pain? What will my child’s life be like?’ Those questions come up very early, and in some cases we only have limited knowledge to guide us,” Tarini says. “Good, consistent communication and continued research on these conditions are critical to achieving the best outcome for these children and their families. That’s why it’s important to focus on what happens to children and their families after the initial testing.”
How will states and public health departments across the country organize, implement and pay for these efforts? The dialogue continues, thanks in part to Tarini’s research and community collaboration.
Physicians use the same drop of blood to diagnose:
- MCAD (medium chain acyl-CoA dehydrogenase deficiency)
- congenital adrenal hyperplasia
- biotinidase deficiency
- maple syrup urine disease (MSUD)
- sickle cell disease
- congenital hypothyroidism
- cystic galactosemia fibrosis
Learn more about the Child Health Evaluation and Research Unit.