The “Meet the Scientist” series brings you conversations with NCEH/ATSDR scientists that aim to give you a sense of the talented people who are working to keep you safe and secure from things in the environment that threaten our nation’s health.
Newborn screening is one of the nation’s most successful public health programs. Newborn screening programs test babies for disorders that are often not apparent at birth. If these disorders are not found and treated soon after birth, they may cause mental retardation, severe illness, or even premature death. How critical is newborn screening? Laboratories screen more than 4 million newborns annually in the United States. As a result, thousands of infants are rescued from disability and death. Meet the next “Meet the Scientist” interviewee, Carla Cuthbert, PhD, Branch Chief, Newborn Screening and Molecular Biology Branch in CDC/NCEH.
Carla was born and raised on the island of Trinidad, but later moved to Ontario, Canada. She loves the outdoors, and confesses that many years ago she played field hockey—goalie, no less!
She attended McMaster University in Canada and later Queen’s University where she earned her PhD in Pathology with special emphasis on genetics and biochemistry. “I was really interested in biochemistry, so when a geneticist approached me about becoming a biochemical geneticist, I was intrigued by the challenge. I accepted an offer to go to Toronto to do a fellowship at a children’s hospital. Once I complete my biochemical genetics fellowship, I completed two additional clinical laboratory fellowships at the Mayo Clinic in Rochester, Minnesota. After my training, I accepted a position at the University of Miami (Florida) for four years, to set up and run a biochemical genetics laboratory.” said Carla. Being in beautiful, sunny south Florida was great. However, there weren’t any daily decadent beach excursions for Carla, because the establishment of a new lab was often demanding. With a smile, she describes it as being “challenging, but exciting.” In her spare time, Carla says, “I like roughing it outdoors. I love to go camping. Also, my family still lives in Toronto, Ontario, and I try to visit them whenever I can.”
As You Read:
Biomarkers: Chemical substances associated with specific disorders, such as sickle cell disease, detected in newborn screening tests.
Blood Spots: Drops of blood placed on a filter paper.
Reference Materials: provide benchmarks for measurement.
Test Panels: Sets of medical tests to help diagnose and treat diseases.
Of Biomarkers and Blood Spots: NCEH’s Role in the Newborn Screening Process
The Newborn Screening Quality Assurance Program (NSQAP) provides quality assurance resources to state public health laboratories and other laboratories responsible for newborn screening. These resources include:
- technical consultation
- proficiency testing
- reference materials
NSQAP provides comprehensive quality assurance services to program participants. The program works with all newborn screening laboratories in the U.S. and laboratories worldwide. One of NSQAP’s primary activities is to prepare dried blood spot reference materials for distribution to participating laboratories. Carla explains that while “newborn screening is more than a test—the testing process is actually very critical. You need to have some sort of evaluation to determine if an infant is at risk for a disease. We aim to offer appropriate leadership and expertise to ensure that the testing process is robust and reliable, providing high quality measurements—every day, for every test, on every baby’s samples.”
It is also important to make sure that NSQAP is strategically positioned to provide support for any new conditions that are added to the recommended newborn screening test panel. Carla says that NSQAP strives to anticipate the needs of state newborn screening laboratories and works collaboratively with state programs to design and implement laboratory solutions.
The quality assurance efforts at CDC involve a continual interaction between NSQAP and the participating laboratories. Here’s an example of how we support public health labs in the screening process:
First, CDC scientists start with prescreened blood from blood banks. They enrich the blood with selected biomarkers.
Next, the blood is spotted—either by hand or through use of a robot—onto filter paper. The spots are carefully dried, validated through rigorous in-house testing, and then stored in a freezer to minimize humidity and ruin.
Finally, NSQAP sorts panels of dried blood spot specimens and sends them out to participating labs. The laboratories analyze the specimens and return their assessments to NSQAP for review. NSQAP then compiles this data and reports the results to help laboratories maintain accurate and reliable testing practices. NSQAP’s Data Verification and Evaluation reports, along with NSQAP’s dedicated efforts to work with laboratories, help newborn screening laboratories get the right answer every time.
Most Rewarding Experience
“In 2011, during a national newborn screening conference, we had a number of people from our group presenting during sessions and stationed at our exhibit table. All attending staff had an opportunity to have face-to-face interactions with members of the newborn screening community. Staff are not always aware of the impact of their work,” said Carla. “It was gratifying to feel a sense of appreciation from the community that we are committed to serve.”
We hope you enjoyed meeting Dr. Carla Cuthbert. Interested in other Meet the Scientist conversations and NCEH/ATSDR accomplishments? Visit the NCEH/ATSDR Your Health, Your Environment blog!