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Welcome Letter
Dear colleagues,
We are excited to have you join us for the upcoming Newborn Screening Workshop hosted by the Simons Foundation Autism Research Initiative (SFARI).
Newborn screening has long been recognized as one of the most successful public health programs of all time. In recent years, efforts to expand the screening to additional conditions have been met with substantial challenges, including the lack of prominent biomarkers detectable on the main screening platform (mass spec). Alternatively, genomic sequencing technology has the capability to detect hundreds of genetic diseases with a single platform, and its application in newborn screening has been explored in recent studies. While the vast potential benefits of the technology were demonstrated, numerous practical challenges were also exposed. Additionally, the current system screens exclusively for conditions with approved drug or dietary treatments, which precludes many highly penetrant neurodevelopmental conditions that manifest early in life and would likely benefit most from early treatments. While these conditions currently have no cures, there are overlooked opportunities to assess potential symptomatic relief treatments (such as for seizures) and early intervention.
The SFARI Newborn Screening Workshop intends to further the exploration of how to enable genomic sequencing in newborn screening by bringing the top minds in the field together for a deep brainstorming session. With the collective diverse expertise of the participating key opinion leaders in technology, data science, clinical research, state laboratory, pediatric ethics, and public policy, the conversations in the workshop will hopefully influence the future directions of newborn screening research and implementation.
We hope this workshop will serve as the beginning of an open and widely collaborative effort that will contribute to the advancement of newborn screening for our next generations. Thank you for contributing your time and expertise to a brighter future with more and more babies enjoying a healthier start in the world.
We look forward to seeing you in September.
Dr. Wendy Chung
Director of Clinical Research, SFARI
Kennedy Family Professor of Pediatrics in Medicine, Columbia University
Dr. John Spiro
Interim Director, SFARI
Dr. Zhanzhi Hu
Consultant, SFARI
Ms. Annamarie Saarinen
Co-founder & CEO, Newborn Foundation