Building the Digital Infrastructure to Enable Genetic Medicine: Recommendations from a Multi-Stakeholder Summit

Practical barriers to implementation prevent the promises of genetic medicine from being realized across the U.S. healthcare system. Though new genetic technologies are introduced daily, the process of determining if, when, and how to use them can take decades. Last Fall, we convened a multi-stakeholder summit to address systemic barriers to delivering precision medicine at scale. In particular, we focused on digital infrastructure connecting genetic information in healthcare. Our group consists of stakeholders across the supply chain including health insurers, clinicians, hospital systems, researchers, policy makers, patient advocates, clinical laboratories, technology vendors, and drug developers. Through facilitated discussions, we identified barriers to ordering, performing, delivering, reimbursing, and regulating genetic tests and the information they provide, and generated proposals to overcome these barriers. In a series of in-depth panel discussions and solution-oriented breakout sessions, we explored five key focus areas: (1) Laboratory quality and patient safety; (2) clinical validity, utility, and value assessment at scale; (3) test identification for market tracking, evidence-gathering, billing, and payment; (4) provider education, communication, and support at the point-of-care; and (5) patient access and control of genetic data. Here, we present each focus area with potential solutions and suggested next steps. Consistent with the Summit, all five draw on multi-stakeholder solutions to pressing problems, ultimately enabling a more connected genetic health information network to serve patients more effectively. To maintain a near-to-mid-term time horizon, both the meeting and this paper focus on projects that can achieve meaningful advancement within a 3-year time frame.