the AJMG SEQUENCE
Online repository lets researchers view newborn blood spots in several states simultaneously
Website stores information on 2.2 million specimens, helps researchers communicate quickly and easily with multiple states about screening samples
Version of Record online: 24 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, page ix, January 2013
How to Cite
(2013), Online repository lets researchers view newborn blood spots in several states simultaneously. Am. J. Med. Genet., 161: ix. doi: 10.1002/ajmg.a.35821
- Issue online: 24 DEC 2012
- Version of Record online: 24 DEC 2012
A new web-based virtual repository of Anewborn blood spots offers researchers a detailed view of stored blood spot specimens in four states at once.
The repository at the National Coordinating Center for the Newborn Screening Translational Research Network (NBSTRN) offers a simultaneous cross-state view of available dried blood spots in California, New York, Michigan, and Iowa.
Available at https://www.nbstrn.org, the tool offers a database of de-identified information about stored specimens, allows users to browse regulations about using the specimens, and automates the process for requesting use of blood spots. The specimens are under the control of state newborn screening programs.
Currently, repository users can search 2.2 million spots. Some states have more blood spots than what is shown in the NBSTRN database, says Michael Watson, PhD, Executive Director of the American College of Medical Genetics and Genomics (ACMG), which established NBSTRN with a grant from the National Institutes of Health (NIH).
“Now there's a central location to see what bloodspots might be available, what issues relate to their use, and how to contact states,” says Brad Therrell, PhD, Director of the National Newborn Screening and Genetics Resource Center and member of an ACMG work group involved in developing the repository. “The repository gets the conversation going. In the end, researchers work with states and follow their rules.”
“The repository can help researchers get sufficient sample sizes, which is always a challenge in the study of rare diseases,” says Dr. Watson. “The repository also offers researchers an unbiased ascertainment of newborn screening samples,” he adds, noting that bias is a huge problem in genetic research.
A new online repository of newborn blood spots can help researchers get sufficient sample sizes.
The repository includes information about both the individual child and his or her blood spot. Researchers can learn the child's birth year, birth weight, gender, race, ethnicity, age at sample collection, nutritional and feeding status, and diagnosis, if applicable. The repository also notes the temperature at which the blood spot is stored.
The repository also tells researchers whether a blood spot is available, and gives it an external identification number. The unique internal identifying numbers of states are unavailable to researchers, according to the NBSTRN web site. Users can also see other data elements collected by certain states, which is important information in the early stages of a study. Researchers can filter this information to find particular bloodspots that are relevant to their research, says Dr. Watson.
The repository also walks researchers through the often complex process of obtaining blood spots, which varies from state to state, says Dr. Watson. States have different institutional review boards, legislation, and rules regarding how blood spots may be used and transferred.
The online repository is the only place researchers can communicate with multiple states about newborn screening samples, according to Dr. Watson. Having a central place to communicate makes the search for appropriate blood spots quicker and easier for researchers, and saves time for state public health department staff. They can receive requests from well-informed researchers and are spared the need to explain rules for blood spot use. States can also use the repository to review and manage specimen requests, track shipments, and obtain feedback on specimen quality.
“Newborn screening programs with small staffs don't have to talk to a bunch of researchers who might not ultimately want their spots,” Dr. Therrell adds.
Since opening, more than a dozen researchers have used the repository, as well as staff from companies interested in developing technology for newborn screening, according to Dr. Watson.
He hopes that more states will participate and help researchers find new treatments for genetic diseases. In the past, medical geneticists mainly gave diagnoses and helped with decisions about family planning, but research on the repository's blood spots could help geneticists directly treat more diseases, he says. Promising potential therapies could result from use of blood spots, he says, including chaperone molecular therapies that normalize the structure of proteins so enzymes work properly, and treatments that target and read through stop codons.
The virtual database is a valuable resource because currently only about one-third of states save newborn blood spots for more than five years. This situation makes finding the right bloodspots in sufficient numbers for a study challenging, says Dr. Therrell. “I want more researchers to know about the availability of the spots from the four states, how they can be useful, and how to access them,” he says, adding that more demand may spur other states to join in.