Dr. Green is Professor of Medicine (Genetics) at Harvard Medical School and a board-certified medical geneticist who directs the Mass General Brigham Preventive Genomics Clinic, the Genomes2People Research Program and the Precision Population Health Initiative at Mass General Brigham, the Broad Institute and Ariadne Labs. He has led policy development for returning genomic information to research participants within the Global Alliance for Genomics and Health, the Verily-Google Baseline Project and the 1 million participants All of Us Research Program. He is co-founder of Genome Medical, a technology and service platform delivering telegenetics expertise throughout the US. Dr. Green leads the BabySeq Project, the first research to provide empirical data on the clinical utility and cost-effectiveness of genomic sequencing in healthy newborn infants, with the goal of establishing a responsible path to achieve universal human sequencing.
The Path to Universal Newborn Sequencing
Universal newborn sequencing has been a futuristic vision for decades. Today rare genetic disorders are becoming increasingly preventable with gene-targeted therapies, but sequencing will be needed to detect them early. This talk presents empirical data from the NIH-funded BabySeq Project on the clinical utility and cost-effectiveness of comprehensive newborn sequencing in apparently healthy infants.
Ed Esplin, Invitae
Genetic testing has evolved over time and various applications have successfully made it into the clinical setting. While oncology applications are dominating, we also see a rise in genetic/genomic applications for reproductive health, CVD diagnosis, or early life understanding. Technological advancements are required to scale genetic testing applications delivery including relay of genomic information to clinicians and patients. In parallel to technological challenges, hurdles are also observed when it comes to insight/knowledge extraction, reporting of clinical findings, and scaling of genetic counseling. This track will touch upon these various aspects including successful precision medicine models through biopharma ventures for rare disease understanding and direct to consumer genetic testing.