SAN DIEGO — A population-based monitoring program is underway in four states to develop clinical data on metabolic conditions screened at birth using tandem mass spectrometry.
The goal is to develop sustainable, population-based longitudinal monitoring that includes measures of clinical and public health impact, researchers led by Dr. Lorenzo D. Botto reported during a poster session at the annual meeting of the Society for Inherited Metabolic Disorders.
“There are major data gaps on metabolic conditions diagnosed by newborn screenings, [including] few data on clinical and public health impact and long term outcomes,” the researchers stated. “To better prevent disease and improve health it is crucial to have a strong evidence base to know what to test, what we find, what to treat, [and] what benefits to expect.”
Funded through September 2011 by the Centers for Disease Control and Prevention, the pilot study is assessing how existing birth defect surveillance programs in California, Iowa, New York, and Utah can expand to monitor 19 metabolic disorders identified by the American College of Medical Genetics.
At the meeting, Dr. Botto of the division of medical genetics at the University of Utah, and his associates presented preliminary data from 461,226 babies born in the four states in 2006 on the prevalence of four common conditions: glutaric aciduria type 1 (GA-1), 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC), medium chain acyl-CoA dehydrogenase deficiency (MCAD), and phenylketonuria (PKU).
In 2006, there were 33 cases of 3-MCC (a rate of 7.2 per 100,000 births); 27 cases of PKU (5.9 per 100,000 births); 17 cases of MCAD (3.7 per 100,000 births), and 3 cases of GA-1 (0.7 per 100,000 births). The cases occurred in predominantly non-Hispanic white infants.
The next steps are to collect health, outcomes, and use of medical services data on the 2006 cohort; add the 2007 birth cohort; and, for the combined 2006–2007 cohort, evaluate morbidity, mortality, disability, and health service use through the second year of life.
“Funding challenges persist, even for pilot studies,” the researchers noted. “Integrating funding and activities between different public agencies and professional organizations would be very beneficial.”
The work is funded by a grant from the CDC's National Center on Birth Defects and Developmental Disabilities.