MAY 16, 2023 9:00 AM PDT

Keynote Presentation: The Path to Universal Newborn Sequencing with Live Q&A

C.E. Credits: P.A.C.E. CE Florida CE


The Genomes2People Research Program (G2P), led by Robert Green at Brigham and Women’s Hospital, the Broad Institute, Ariadne Labs, and Harvard Medical School, conducts research to accelerate the implementation of genomic medicine and the promise of precision health. In his talk, "The Path to Universal Newborn Sequencing", Dr. Green discusses the latest advancements in genomics research and the promise it holds for personalized and preventive medicine, drawing on his work leading the MedSeq and BabySeq projects.

Throughout his talk, Dr. Green highlights the progress made by the MedSeq and BabySeq projects in advancing our understanding of genomics and its application to clinical care. MedSeq explored the use of whole genome sequencing in primary health care and cardiology specialty care, while BabySeq focuses on the use of genomic sequencing as screening in newborns. In its current phase, BabySeq is enrolling 1,000 families from diverse populations and using whole genome sequencing as screening to assess clinical utility and cost effectiveness.

Dr. Green discusses how the insights gained through these projects are paving the way for a more personalized and preventive approach to medicine. He emphasizes the importance of integrating genomic data into clinical care and the need for policies and guidelines to ensure that this is done in an ethical and responsible manner.

Through rigorous scientific research, G2P is establishing a foundation of evidence for genomic medicine that will accelerate the adoption of novel genomics-based technologies and hasten the day when illness is not just treated, but prevented.

Learning Objectives:

1. Discuss the current state of genomics research and its potential to improve human health through personalized and preventive medicine.

2. Discuss the arguments for and against population based genetic screening.

3. Identify the percentages of healthy adults and infants who carry unanticipated monogenic disease risks or atypical pharmacogenomic variants as observed in the MedSeq and BabySeq projects.

4. Explain the difference between indication-based genetic testing and predictive genetic testing.

5. Describe the actions taken for both infants and their families in the BabySeq Project based on unanticipated monogenic disease risks.

6. Assess whether follow up was appropriate or exaggerated for babies identified with unanticipated monogenic disease risk findings in the BabySeq Project.

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