1. Genetic testing laboratory quality and patient safety;
2. Clinical validity, utility, and value assessment at scale;
3. Genetic 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.

Despite concerted efforts from stakeholders across the healthcare system, challenges persist in delivering precision medicine reliably, efficiently, and cost-effectively. Because critical challenges manifest at the intersections between stakeholders – or are inherent to the information systems that connect them – no individual stakeholder can solve them alone. Instead, active collaboration is required.

At the 2018, the following key themes emerged:

1. Frameworks and transparency around test quality and value remain limited
2. Data has replaced oil as the world’s most valuable resource
3. The promise of precision cures is becoming a reality, but barriers remain
4. Providers still need genetics incorporated into their workflow
5. Consumers are driving the market and forcing a health system response
6. Disruptors are coming from outside of healthcare

The key implications of this discussion were documented for this Whitepaper, which include important topics of discussion for future events.

As genetics extends into clinical and consumer marketplaces, healthcare stakeholders face a growing set of challenges. In order to meet expectations and deliver on the promise of precision medicine, an effective cross-stakeholder information network for genetics is needed. Operationalizing such a network requires active collaboration.

At the 2019 Summit, te following key themes emerged:

1. Diagnostics is (still) a data business. Genetic data interoperability is vital, yet lacking.
2. Security and privacy models are not sufficiently mature to enable clinical care, data sharing, and research.
3. Gaps in genetic knowledge are widening between healthcare stakeholders. This mismatch is creating friction in the system.
4. Patients and consumers want access to personalized care on their terms. This will require significant advances in system integration.
5. As healthcare moves to valuebased care, the importance of genetics must be understood alongside other factors, such as social determinants of health.

The substance of this discussion was documented for this Whitepaper, which includes key implications important topics of discussion for the 2020 Genetic Health Information Network Summit.

1. The COVID-19 pandemic sent clinical diagnostics and digital health infrastructure trends into overdrive.
2. Evidence development is undergoing a radical and irrevocable change in response to a growing appetite for rapid, targeted, distributed clinical trials and real world evidence.
3. Democratization of healthcare through access to technology is accelerating.

Each of these is unpacked in the paper, and a call for case studies at the upcoming Summit is issued.

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.

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