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Carla Cuthbert, PhD

Carla Cuthbert, PhD   
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(800) 232-4636 Main Office

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Diagnostic Lab Director
Medical Geneticist
Molecular Lab
Public Health Manager/Director

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Dr Cuthbert is the Chief of the Newborn Screening and Molecular Biology Branch, at the National Center for Environmental Health at the CDC. The Branch comprises several quality assurance, public health service, test development and translational research activi- ties. The Newborn Screening Quality Assurance Program (NSQAP) is devoted to ensuring the accuracy of newborn screening tests in every state and more than 78 countries. Service activities include proficiency testing, development of quality control and reference blood spot materials, filter paper evaluation, training and consultation. The mission of the Newborn Screening Translation Research Initiative (NSTRI) is to assure that the translation of research methods into routine laboratory tests for newborn screening leads to sustainable high-quality testing and healthier babies worldwide. Its activities include development of new screening methods for spe- cific diseases (eg LSDs and SCID) and integrating State Public Health Laboratories into the translation process through collaborative field studies (eg SCID pilot programs with Wisconsin and Massachusetts). The Newborn Screening Molecular Biology Team functions to facilitate and enhance newborn screening through molecular testing. Its activities include collaboration with screening laboratories for method development, technology transfer and providing expertise.

Prior to her work at the CDC, Dr Cuthbert was a Biochemical Genetics Laboratory Director at the University of Miami, overseeing all aspects of laboratory management and reporting, providing consultation for physicians, staff and other healthcare professionals for patients with inborn errors or metabolism. She also has a strong interest in education and was the instructor for the ABMG General Genetics Review and the Clinical Biochemical Genetics Review courses offered to Medical Genetics Fellows and Residents at the Uni- versity of Miami.

Dr Cuthbert’s Fellowship in Biochemical Genetics at the Hospital for Sick Children in Toronto sparked an early interest in small molecule method development using tandem mass spectrometry for the diagnosis of inborn errors of metabolism. During subsequent fellowships at the Mayo Clinic in Rochester, Minnesota (Biochemical Genetics and Clinical Chemistry), her projects included mass spectrometry method development of steroid markers for Congenital Adrenal Hyperplasia and development of assays for homocys- teine and methylmalonic acid in dried blood spots as second-tier NBS markers for elevated methionine and propionylcarnitine respec- tively.

Dr. Cuthbert is board-certified in Clinical Laboratory Biochemical Genetics from both the American College of Medical Genetics and the Canadian College of Medical Geneticists. She is also a candidate for the American Board of Clinical Chemistry.

SERN Highlights
March 2018

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.

LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected and treated in a timely manner, these disorders may cause organ damage, neurological disability or death.
"The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That's why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important."
Several states currently mandate LSD screening in all newborns, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. However, until today there were there were no FDA-authorized devices for screening of these disorders. Availability of the Seeker System provides laboratories with a screening tool that has been reviewed by the FDA for clinical and analytical validity.
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn's heel 24 to 48 hours after birth. The Seeker Instrument is a device that automates the analysis of dried blood spots. Reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit may indicate presence of a disorder. Results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic and other laboratory tests.
The FDA reviewed the data for the Seeker System through the de novo premarket review pathway, a regulatory pathway for devices of a new type with low-to-moderate-risk that are not substantially equivalent to an already legally marketed device and for which special controls can be developed, in addition to general controls, to provide a reasonable assurance of safety and effectiveness of the devices. During this process, the FDA evaluated data from a clinical study of 154,412 newborns in Missouri whose dried blood samples were tested for protein activity associated with MPS I, Pompe, Gaucher and Fabry. Efficacy was determined because the system was able to accurately identify at least one of each of these four LSDs in 73 of the screened newborns.
Risks associated with use of the screening system include false negative findings. As part of this study, the Missouri State Public Health Laboratory conducted active surveillance of four of the state's metabolic clinical centers for new diagnoses of these disorders. The state laboratory's surveillance activities extended 15 months following the study's completion to determine cases of false negatives that had not been identified during the study. No false negative results were identified either through the study or the state's 15-month surveillance program.
The Seeker System was created with funding from the Small Business Innovation Research program in National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development. It is manufactured by Baebies Inc., located in Durham, North Carolina.
The FDA, an agency within the U.S. Department of Health and Human Services, promotes and protects the public health by, among other things, assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.
JELILI OJODU, MPH | Director, Newborn Screening and Genetics
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