Navigating a new frontier for genomics

January 2018

“There’s lots of hype and excitement about these technologies, but I think we really need to ensure that we have the economic evidence that they’re actually a good value for the money for healthcare systems and payers.”

—Healthcare expert

“We believe that it is [the diagnostics] ecosystem and collaboration within the ecosystem that will make a genomics revolution feasible from a clinical perspective.”

—Industry participant

Genomics is poised to revolutionize the future of healthcare. Genomic tests can enable the delivery of targeted treatments, inform individuals about personal health risks, proactively impact consumer behavior, and allow providers to intercept disease before it develops. Genomics offers many possibilities, but it has its skeptics. Some experts and stakeholders within the healthcare system question whether much of genomics’ purported potential is simply hype, emphasizing that the technology is too new and costly and our understanding of its clinical application is nascent. 

Despite these hesitations, industry observers predict continued growth in the use of genomic sequencing. According to one estimate, individuals sequenced in clinical settings alone could reach 60 million by 2025. Additionally, as the cost of sequencing continues to fall, more healthy individuals will be able to purchase tests through direct-to-consumer (DTC) channels. Lowered costs will not only increase the total number of individuals who have undergone some type of sequencing, but also expand the scale of the tests themselves and the data they capture. Today, sequencing a genome can cost as little as $1,000. According to one industry player, new sequencing technologies may push this closer to $100 in three to five years. 

On December 14–15, 2017 in Washington, DC, Tapestry Networks convened the inaugural meeting of the Diagnostics Innovation Network (DxIN) to address the growth of genomics and genetic tests and their applications for patients and consumers. The DxIN’s focus includes screening tests that may be used by healthy populations, carrier screening or other predictive tests for at-risk individuals, diagnostic tests, and tests that inform targeted therapy selection. 
The DxIN, comprising health and life insurers, genomics experts, industry players, and clinicians, aims to identify specific improvements that would enable genomics to meaningfully advance patient and consumer outcomes in the United States, while drawing from comparisons and lessons from other countries. The network also aims to share approaches that can be adapted or scaled to further the identified improvements, particularly for healthcare payers, life insurers, and reinsurers. For these players, genomics is an area of mutual interest as well as mutual concern. It is poised to change how insurers of all kinds assess risk, use and maintain data, and deliver products and services to their plan sponsors, members, and policyholders. 

The DxIN launch meeting built on pre-meeting discussions with participants and focused on the following topics, which are described in detail in this ViewPoints:

  • Strengthening the evidence base for genomics, including improving our collective understanding of the genome and the costs, risks, and benefits of clinical application

  • Determining where to direct future investment in genomics

  • Improving how genomic data is captured, communicated, and used 

  • Responding to the shifting regulatory environment for genomics, including regulation of tests themselves and protections for patients and consumers

Participants considered current gaps and challenges on these topics, focusing primarily on the future of genomics and approaches that could help resolve the complexity involved in putting genomics into practice on a large scale. “DxIN participants are a village of stakeholders, and it will take a village” to responsibly apply genomics in the clinic and consumer populations, one participant said.