Van Andel Institute (VAI) researchers are the first to apply a new technology to measure on a large scale the presence of genes in blood spots - the blood drawn from newborn infants to screen for health-threatening conditions.
Using a random sample of blood spots collected from 1998 to 2004 and the latest RNA technology, researchers were able to detect over 3,000 genes in each sample, and to quantify the levels of several specific genes. This type of testing and data could eventually be used for the retrospective study of disease with an ultimate goal of identifying at-risk children in an attempt to pre-empt the onset of disease.
"This is a vast, underutilized resource," said James Resau, Ph.D., distinguished scientific investigator, deputy director for special programs, and director of the Division of Quantitative Sciences at VAI. "Imagine testing blood from nearly the entire population of U.S. infants and using the data for the retrospective study of disease. If a particular disease pops up in a specific segment of the population, you could use the data to look for causes, biomarkers and potential drug targets."
All 50 states in the U.S. have mandatory newborn screening programs, and the practice has been adopted by most countries around the world. Typically, this involves pricking the heel of newborns, also known as a "heel stick," to get a few drops of blood on filter paper. The blood is then screened for diseases for which early diagnosis and therapy can cure, prevent, or lessen the effects of the disease. The list of diseases tested for varies by state, but testing generally only uses a small portion of the blood. The rest is archived in varying conditions, sometimes for 21 years or more.
"The amazing thing is that many of these blood spots are stored in room temperature conditions, so we're basically testing dried blood on filter paper," said Resau. "Even so, we got good RNA test results from samples that have been in storage for as long as nine years."