Newborn screening for over sixty conditions in the United States enables early identification and treatment of infants with rare genetic disease. Two of the conditions are screened using physiological tests in the newborn nursery, while the remaining conditions are detected from a blood sample collected on filter paper. Over 50% of states retain these samples and these residual dried blood spots become a valuable resource for advancing understanding of disease and environmental exposures. A study by Hsu et. al utilized archived newborn blood spots to understand which genes are associated with the most common subtype of leukemia, acute lymphoblastic leukemia (ALL). The research team was able to conduct a population-based case control study using the state birth registry to match subjects on age, sex, Hispanic ethnicity and maternal race. The study was approved by the institutional review committees from the participating institutions and the state’s department of health. This effort highlights an important use for residual dried blood spots.
Dr. Ling-I Hsu is an Associate Director of Global Health Economics and Outcomes Research at Gilead Sciences. She is affiliated with the School of Public Health at the University of California, Berkeley. Hsu’s research focused on public health in genetics covering dozens of health factors that affect aging and the development of cancers and rare diseases.
The Newborn Screening Translational Network (NBSTRN) is an international network of clinicians, researchers, and parents advocates who support the research and development of newborn screening programs. Visit the NBSTRN website to learn more about state NBS programs.
Read more about the use of dried blood spots in this study of acute lymphoblastic leukemia at:
Hsu LI, Briggs F, Shao X, et al. Pathway Analysis of Genome-wide Association Study in Childhood Leukemia among Hispanics. Cancer Epidemiology, Biomarkers & Prevention: a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology. 2016 May;25(5):815-822. DOI: 10.1158/1055-9965.epi-15-0528.https://europepmc.org/article/pmc/pmc4873450