Stephanie Garcia
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Stephanie Garcia's Latest Blog Posts
A Strong Start: Enhancing Newborn Screening for Precision Public Health
Stephanie Garcia | October 15, 2020
As the capability to sequence an individual’s genome or exome continues to expand—and the cost continues to fall—more states are considering how next generation sequencing (NGS) could support their newborn screening programs, which test approximately four million babies born in the United States each year for congenital, treatable diseases.
Results from NGS can help enhance newborn screening programs by providing more information beyond traditional biochemical and other tests. Not all states have the expertise needed to interpret NGS results,
PCOR Coordinated Registry Network for Women’s Health Technologies
Stephanie Garcia | June 15, 2020
ONC recently released results from the Coordinated Registry Network for Women’s Health Technologies project, a collaborative effort conducted with the U.S. Food and Drug Administration (FDA) and National Institutes of Health (NIH) to enable researchers to generate real-world evidence using data that address some women’s health issues.
Read Full Post.Clinical Genomics Data for Precision Medicine
Stephanie Garcia | April 22, 2020
Genomic data—information about the complete set of genes that make up each individual—have the potential to revolutionize healthcare and usher in a new era of precision medicine and scientific discovery. However, there is currently no standard way of presenting genomic data, and the standards for integrating those data with electronic health record (EHR) and other health information technology (IT) systems remain under development.
Read Full Post.The Application of Machine Learning to Address Kidney Disease
Stephanie Garcia | March 31, 2020
During National Kidney Month, the Office of the National Coordinator for Health Information Technology (ONC) joins communities across the country to raise awareness about kidney disease and to highlight our efforts to support patients through research. In particular, ONC is collaborating with the National Institutes of Health’s National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) to enhance data infrastructure for patient-centered outcomes research (PCOR) through a project advancing artificial intelligence (AI) and machine learning called Training Data for Machine Learning to Enhance PCOR Data Infrastructure (the PCOR Machine Learning Project).
Read Full Post.We’re One in a Million: ONC and the Precision Medicine Initiative
Stephanie Garcia | February 27, 2020
The increasing availability of electronic health data in the 21st century has tremendous potential to ignite a new era of inquiry and discovery. ONC is part of the Precision Medicine Initiative (PMI), a federal effort to spur the next generation of health research by rethinking access, aggregation, storage, and analysis of many kinds of health and health-related data. With precision medicine, researchers will be able to make new discoveries about health and illness to bring a more personalized approach to patient care.
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