Precision Health

The confluence of three factors – the $100 genome, 8-hour diagnosis by genome sequencing, and impact of the orphan drug act – has made a founding promise of the human genome project finally feasible. It is to identify over 500 genetic diseases that have effective therapies at birth and commence treatment at or before symptom onset. We will share medical and pharmaceutical perspectives of world-wide efforts to introduce newborn screening by genome sequencing.

The human genome project helped set in motion an era of innovation spanning technology, policy, and R&D, creating an opportunity to identify many genetic diseases with known treatment options at birth. I will share an industry perspective on world-wide efforts to introduce newborn screening by genome sequencing, discuss the impact this is predicted to have on 500+ treatable disorders, and implications for emerging gene targeted therapies.

Of the more than 250M individuals worldwide estimated to have and rare and undiagnosed genetic disease, only a small fraction have access to appropriate molecular testing. Here we report on the iHope program, an international effort spanning 8 countries and 24 clinical sites to provide clinical whole genome sequencing (cWGS) free of charge to patients with limited means. An analysis of more than 1000 geographically and ancestrally diverse cases shows high diagnostic and clinical impact in both high and low- and middle-income geographies.

Since my own cancer diagnosis at age 19, I have been striving to create precision health for myself, thousands of cancer patients I have tried to help, and through my roles as a researcher-turned-executive leading health & life sciences at Intel Corporation and, more recently, at the National Institutes of Health. Even with the huge platforms and budgets of big tech and the federal government – and even doing innovation "right" according to all of the experts – the magic of precision health impacts has remained mostly small-scale, ephemeral, and difficult to repeat. I'll share "lessons learned" from those scaling failures, including 1) broadening the mission of precision health; 2) doing better workforce & workflow design from the start; 3) building a bigger ecosystem of fellow travelers; and 4) rethinking pay-for-quality.

Medical care is estimated to account for only 20 percent of the modifiable contributors to healthy outcomes for a population. The other 80 to 90 percent – the social determinants of health – are determined by our health behaviors, social and economic factors, and physical environment. In this session, we will review the evidence, challenges, and opportunities for the use of consumer digital health tools in precision medicine. We will explore the ways in which patients are increasingly empowered to use their data to shape their own health journey.

The emergence of digital diagnostics – algorithms built on top of routinely collected clinical data – have created a new paradigm to screen large populations of individuals and identify disease early, to help select effective therapies. But deploying a test at scale also introduces new challenges. We explore these issues through the lens of an AI-powered ECG device to identify risk of undiagnosed disease.

Digital tools offer a scalable approach to hereditary cancer risk assessment and have the potential to efficiently identify individuals in need of genetic evaluation in a variety of clinical settings. The RISE Hereditary Cancer Risk Assessment Module (HCRA) is a brief patient-administered digital screening tool that has been clinically validated for this purpose and is based on national testing guidelines. Usability, yield, and other implementation outcomes will be discussed specific to deployment in several a variety of specialty and primary care clinical settings.

While health plan policy frameworks typically assess the net benefit of a service against the net cost of that service, there are many attributes currently unaccounted for which contribute to the benefit and efficiencies of comprehensive genomic profiling tests in advanced cancer patients. We will explore some in the form of value of clinical trial direction, relevant quality of life outcomes, low risk of downstream or off-label costs, and the economic impacts beyond cost of testing.