A Low Blood Volume Platform for Global Newborn Screening of Common, Treatable Conditions - An estimated 80% of babies born worldwide (approximately 100 million each year) currently do not receive any
newborn screening care. Newborn screening (NBS) is an immensely successful testing program that identifies
those at increased risk for common, treatable congenital disorders; the pre-symptomatic identification of these
disorders in newborns enables the rapid initiation of treatments and reduces or prevents serious health
consequences such as mental disability, neurological dysfunction and premature death. While every child born
in the U.S. is tested for at least 30 disorders, the overwhelming majority of children born in developing
countries are not screened for even a single disorder.
To help introduce newborn screening to regions lacking the infrastructure necessary to implement central
laboratory based testing, we will develop a cost effective, low-to-medium throughput digital microfluidic testing
platform. The platform will simultaneously measure total serum bilirubin (TSB), glucose-6-phosphate
dehydrogenase (G6PD), galactose-1-phosphate uridyltransferase (GALT) and thyroid stimulating hormone
(TSH) in whole blood in order to screen for hyperbilirubinemia risk, G6PD deficiency, classic galactosemia and
congenital hypothyroidism, respectively. These represent four of the most common, treatable neonatal
conditions in the developing world with a combined incidence of approximately 1 in 10. These tests will be
performed on a modified cartridge and instrument that is based on our FDA-authorized digital microfluidic
platform for measurement of enzyme activities that are indicative of lysosomal storage disorders. The tests for
TSB, G6PD, GALT and TSH will be performed from less than 50 µl of whole blood using disposable cartridges
with a total run time of less than 2 hours for all assays. In Phase I, we will translate 3 biochemical assays and a
novel protein immunoassay (for TSH) to the digital microfluidic format and determine preliminary analytical and
clinical feasibility. In Phase II, we will concentrate on technology modifications to the instrument (addition of
absorbance detection) and cartridge (modified layout and addition of heaters). Once a modified instrument and
cartridge is developed, the TSB, G6PD, GALT and TSH assays will be multiplexed to run on one cartridge and
the analytical performance will be validated. A method comparison study will be performed to assess clinical
utility against “gold standard” screening methods.
The final product will be a flexible (low to medium) throughput newborn screening platform suitable for use in
moderate complexity (hospital) settings in developing countries that currently lack a centralized newborn
screening program. Once the technology is established for our initial 4-assay panel, we plan to expand our test
offerings to cover additional time-sensitive neonatal conditions.
