Genetic Information Tripled from Newborn Blood Spot Screenings

A method that can yield more information from archived newborn blood has implications for diseases in infants and children and for population health studies.

Approximately 9000 activated genes were detected in samples from adult blood spots on Guthrie cards that had been archived anywhere from six months to three years. The modified method uses commercially available tools, it and can be easily adopted by scientists for use on newborn blood spots.

The new assay uses Agilent (Santa Clara, CA, USA) 4 × 44K microarrays for acquiring genome-wide gene expression profiles from blood spots on Guthrie cards. Due to the small amount of RNA obtained from each sample, major modifications, such as concentrating and amplifying the RNA and using a different labeling procedure, were performed.

Guthrie cards have been used for the past 20-30 years to collect blood for mandatory newborn screening programs in the United States, Australia, New Zealand, Japan, and most countries in Europe and South America. Blood is usually collected through a heel prick 24 to 48 hours after birth and is placed on the cards, which may be archived after screening.

Although genetic material in blood from Guthrie cards has been presumed to be degraded because of varying storage conditions, Van Andel Research Institute (VARI; Grand Rapids, MI, USA) scientists were able to detect more than 3,000 activated genes in each sample in a 2009 study. Using the new method, they were able to detect three times that amount.

"Genetic information from Guthrie cards is a valuable resource," said VARI distinguished scientific investigator Jim Resau, PhD. "It opens doors to examine risk factors and potentially diagnose diseases before the clinical features are present. One such disease might be cerebral palsy, which currently can't be diagnosed until a child is nearly two. The information could also be used to study pediatric cancers such as neuroblastoma, which is known to be present at birth in many cases." The study was published in the January 2011 edition of Pathology International.

Archived blood spots can be more than 20 years old; therefore, the next step is to investigate the power of activated gene detection in various archival periods. Prof. Resau said the cards could also be used for population studies, such as finding out when a particular virus first appeared in a specific region, or levels of compounds in that region that could be affecting public health.

Nigel Paneth, MD, M.P.H., university distinguished professor in the departments of epidemiology and pediatrics and human development at the Michigan State University College of Human Medicine (East Lansing, MI, USA) commented, "Showing that mRNA is reasonably well preserved in archived filter paper blood spots, whether frozen or not, opens up a very important avenue for clinical and translational research, especially in child health, because the largest such archive is samples used for newborn genetic screening."

Related Links:
Van Andel Research Institute
Michigan State University College of Human Medicine