Beyond the Immediate Benefits
As we pen this article, a Congressional investigation is under way that has drawn the media to describe consumer genomics as “snake oil.” It is not, in our opinion. Rather, consumer genomics is the Model T of our age—innovative but unreliable, wondrous but not yet fully developed.
What can aid the success of consumer genomics is an understanding and open-mindedness about the vast potential that the technology affords, bounded by appropriate regulatory and privacy constraints. The immaturity of the consumer genomics market means that there are many uncontested market spaces that are waiting to be claimed. Finding and capitalizing on these unexplored arenas will be the next stage of the innovation curve, resulting in consumer products that will drive the acceptance and adoption of this technology into conventional medicine.
Infrastructure: The core infrastructure for consumer genomics will likely include, at a minimum, a few key elements. First, we need to determine how to handle the massive amounts of raw data that large-scale genome sequencing will produce. Where do we put all that data? Who will own it? How will it be analyzed and harnessed?
Second, analytics and clinical decision-making tools must be developed to understand what the data, or the genomic sequence, actually means for the patient and how the physician should use the knowledge to the best advantage in a clinical setting. Third, new data privacy approaches will be needed to overcome the main hurdle to widespread consumer adoption. Finally, provider reimbursement must be defined for preventive approaches. Preventive medicine has historically been very difficult to accomplish and genetic information may be the lynchpin needed to get both consumers and providers to preempt potentially dangerous and costly medical procedures downstream.
Product and Service Innovation: When the $1,000 genome becomes reality and the core infrastructure is in place, DTC genetic testing companies will likely move away from genotyping and toward full-genome sequencing. Further product innovation will result as each company attempts to differentiate itself. Medical software will require much more sophisticated data-analysis capabilities, and as the use of electronic health records grows, these will naturally have to be integrated with the data-analysis software to ensure accurate data reporting.
As part of the empowered patient movement, consumer devices will allow for the integration of genomic data and knowledge into consumer electronic devices. In other words, the iPad and iPhone will help us toward healthier choices, on-demand health services, and rapid interventions when health erodes. And the pharmaceutical industry, already exploring genomics-based approaches to product development, will use those on-demand tools to recruit for genetically defined clinical trials to cost-effectively develop products targeted to smaller and smaller subgroups of the population.