Genetic sequencing and diagnostics company GeneDx announced this week that it would be partnering with the newly launched Florida Institute for Pediatric Rare Diseases to carry out a five-year pilot program of newborn sequencing in Florida.
The Sunshine Genetics Act was enacted in Florida this summer to improve rare disease diagnostics in the state. It includes state funding for a five-year pilot program where parents of newborns can opt in to have their child’s DNA sequenced for free, as well as launching the Florida Institute for Pediatric Rare Diseases at Florida State University.
The pilot sequencing program, which began in July, aims to sequence at least 100,000 newborns in the state with a view to providing early diagnosis of genetic conditions and treatment intervention to improve outcomes.
As part of the program, the institute must maintain a secure database of genetic screening data, provide clinical results to parents and healthcare practitioners, and facilitate (de-identified) data sharing for research.
GeneDx is a well-established genetic testing company founded 25 years ago by two NIH scientists. The company has accumulated a huge database of genomic and exome data about rare diseases and has expertise in sequencing-based testing for rare diseases.
GeneDx will not only provide genomic testing and sequencing capacity for the project, but also expert interpretation and clinical reporting services as well.
“We are honored to be a partner in Florida’s groundbreaking Sunshine Genetics program, the first state-backed effort to offer genomic newborn screening for hundreds of conditions helping ensure that every newborn in Florida has the best chance to live a long and healthy life from the start,” said Katherine Stueland, CEO of GeneDx, in a press statement.
“With the launch of this program, Florida is setting a powerful example for how clinical practice can utilize genomic newborn screening to identify actionable insights early enough to stop disease progression before symptoms ever appear.”
A similar project, also with government funding, is being carried out in the U.K. called the Generation Study, which is also hoping to sequence 100,000 newborns. A multi-state, milestone-driven feasibility study funded through the NIH Common Fund, the Newborn Screening by Whole Genome Sequencing (NBSxWGS) Collaboratory initiative, is also currently looking at how whole genome sequencing could be incorporated into existing state public health newborn screening programs in the U.S.
