SYNOPSIS

At this Summit, sessions dove deep into prevention and population screening, rare disease diagnostics, and molecular oncology. In addition, a new “case study” format enabled participants to share successes in multi-stakeholder collaboration fostered among organizations and individuals who have participated in previous Summits over the years.

Five impactful themes emerged that differentiated the discussion from previous meetings.

1. A new paradigm of recurring testing is taking hold, raising many challenges and opportunities.

2. A “genome for everyone” is not coming soon despite the growing evidence of the benefit of whole genome sequencing (WGS).

3. Leading electronic health record (EHR) vendors have released genomics modules, but transmission of structured test results remains infrequent.

4. Automation in prior authorization is happening on a pilot basis.

5. Direct patient engagement is driving valuable genomics use cases.