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Establishing a Data Ecosystem for Genomic Health

On April 10, a conference on genomics took place with a packed schedule of discussions and presentations focused on various aspects of genomics and its applications in healthcare.

The day kicked off with breakfast followed by an introduction session which included welcome remarks by Eric Green, an overview of the current issue and objectives by Nephi Walton, and a presentation on opening the genome to all by Laura Duque Lasio.

The morning sessions delved into real-world genomic data in clinical care, with talks on germline Mendelian disease data by Ian Campbell, a systematic review of genomic clinical decision support by Darren Johnson, pharmacogenomics data and external systems by Mark Dunnenberger, and an open discussion on informatics challenges moderated by Travis Osterman.

After a morning break, the conference continued with discussions on real-time and rapid genetic diagnosis, featuring presentations on real-time genetic diagnosis by Marc Williams, expanding rapid NICU sequencing by Luca Brunelli, rapid NICU sequencing infrastructure by Valerie Willis, and an open discussion on implementation challenges moderated by Ken Wiley.

A working lunch was followed by sessions on AI and polygenic risk scores, covering topics like data availability by Iftikhar Kullo, FHIR genomics operations by Bob Dolin, AI and genomic data applications by Ryan Abo, and an open discussion on implementation challenges moderated by Josh Peterson.

The day concluded with discussions on delivering genomics information to patients and providers, with talks on patient access to data by Joe Beery, the use of chatbots for patient outreach and education by Guilherme Del Fiol, implementation of genomic information resources by Casey Overby Taylor, and a final open discussion on implementation challenges moderated by Allana Rahm.

The conference ended with closing remarks at 4:50 PM and adjournment at 5:00 PM. It was a day filled with insightful discussions and valuable insights into the intersection of genomics and healthcare.

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