50 years ago the first newborn screening test was developed by a researcher funded by the March of Dimes. Currently there are tests for more than 30 treatable conditions, saving thousands of lives each year. But can these proven screening tests be improved by using genetic testing?
This is the question that a NIH initiative, the Genomic Sequencing and Newborn Screening Disorders research program, seeks to answer. $25 million in all will fund the initiative over a five-year period.
A research team including Steven Brenner, a UC Berkeley professor in the Department of Plant & Microbial Biology, has received $6 million as part of this program to study whether whether large-scale gene sequencing should become part of the routine testing done on newborns.
The project has three broad goals. One is to see if DNA sequencing is as good or better than the current tests used for newborn screening. Another is to see if it is economically feasible to use this technology to test for other diseases that are not currently being screened for. The third is to look into the ethical, legal, and social consequences of whole genome sequencing in newborn screening.
To assist with the first goal, Brenner and his team will partner with the California Department of Public Health to test the blood of 1,400 children in California who were tested at birth with the normal newborn screening. Doing this will help them see whether gene sequencing would be more accurate. They also also want to look at whether it would provide insights that could lead to improved newborn screening, care and treatment.
Other parts of the project will be conducted with UCSF to see if genetic testing will be more accurate and useful, and to explore the legal issues involved.
Read more about this cutting edge project on the UC Berkeley Plant & Microbial Biology News page.