By Allison Proffitt
July 29, 2016 | Researchers mining data in California’s cystic fibrosis (CF) newborn screening registry have identified an additional mutation that is linked to later onset disease, but is usually missed in newborn screening.
“The more information you look for, the more you may be able to say about more unusual forms of CF,” said Richard Parad, a neonatologist at Brigham and Women’s Hospital and one of the authors of the study.
That may seem self-evident, but it’s not the way most newborn screening is currently conducted. Parad believes there is room for improvement, and that CF is a particularly strong testbed.
Parad has been working with California’s cystic fibrosis newborn working group for years. With colleagues from the Children’s Hospital Los Angeles; the Sequoia Foundation, La Jolla, Calif.; and the California Department of Public Health, he published the findings of a retrospective study in Genetic Testing and Molecular Biomarkers last week (doi:10.1089/gtmb.2016.0102).
Parad has seen the state’s testing methodology develop. It’s unique, he told Diagnostics World. Read more here:
http://www.diagnosticsworldnews.com/2016/07/29/the-case-for-whole-gene-sequencing-newborn.aspx
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