Why digital health should care about genomics

Thanks to ongoing advancements in the field of genomics and unprecedented interest from a range of stakeholders including health systems, researchers, the government, and the general public, genetic testing has the potential to reshape healthcare through personalized interventions. This month marks the sixteenth anniversary of the completion of the Human Genome Project, a ten-year international collaboration to sequence and map the entirety of human DNA. Huge strides have been made since then. In the last five years, over three million individuals have opted to get their DNA sequenced through a direct-to-consumer company to better understand their risk of disease, explore their genealogy, or optimize their lifestyle. Their unifying purpose is the pursuit of knowledge, especially for information that is otherwise opaque.

As evidenced by an increasing number of high-profile investments and initiatives, such as the White House-sponsored Precision Medicine Initiative and National Cancer Moonshot, and by the unprecedented drop in sequencing costs, we are at a critical inflection point for making genomics mainstream in healthcare. Although genomics is often thought of as a life sciences discipline used in drug discovery and development, it is increasingly used in healthcare via technology-driven tools that facilitate data sharing, integrate data and findings into clinical workflows, and provide better use cases for consumers. Despite this progress, we have not yet realized the full potential of genomics and much of its value for healthcare remains unknown.

Genomics, like healthcare, has suffered from restricted access to proprietary data, creating silos and impeding innovation. Genomics adoption has been limited due to lack of awareness, few FDA-approved tests, reimbursement challenges, and concerns around privacy and ownership of data. We posit that mass adoption will be spearheaded by healthcare systems who stand to benefit from meaningful clinical insights. But, first, we must rely on researchers to discover those insights.

Delivering on the promise of genomics is dependent upon three main factors, most of which are within the purview of digital health: (1) ensuring broad access to diverse data sets used to deliver insights (2) removing barriers to clinical workflow incorporation, and (3) advancing technology, both in the lab and in the cloud. Although genetic tests are becoming increasingly relevant for providers and consumers, most of the genome remains a black box, one that is slowly being disassembled and interpreted to produce actionable insights. Furthermore, the full value of genetic code remains a relative mystery to consumers, whose adoption and participation is critical for the field.

The field of genomics has incredible promise for improving health. But, just as the genome itself has remained relatively elusive for decades since its discovery, so too are the solutions for integrating genomics into healthcare at scale. Rock Health’s report on genomics helps healthcare stakeholders understand its impact in healthcare and the advancements required for it to truly influence care. To inform our research, we conducted a one thousand person consumer survey to shed light on potential pathways to greater adoption. Read the report here and sign up to be notified of our next report’s release in the form below.