Abstract
Francesco Carta fotografo / Getty Images
As 2019 looms before us, it is fair to say that significant—and perhaps surprising—advances will be made in the precision medicine and omics arenas, as there were in 2018. Can you say multi-marker, multi-drug CDxes? (More on the significant advances in the field in 2018 in our next issue).
While we don’t know for sure what lies ahead for 2019, four leaders in the field recently stepped up and provided Clinical OMICs with their predictions of what they believe could be significant advances in the coming year. Perhaps it was who I asked, but data was the common theme among all four predictions: how data inform clinical care and wellness, who owns the data, and how they are generated. Have your own predictions? Send them to
Preventive Genomic Testing of Apparently Healthy People Dramatically Increases
Professor & Director
Genomes2People Research Program
There are several factors that I believe will lead to widespread genomic testing of apparently healthy individuals in 2019. These include (1) further reductions in the cost of sequencing, (2) steady increase in the sophistication of variant classification, (3) substantial evidence suggesting that downstream harms and healthcare costs of such testing are modest, and (4) increasing evidence to support the clinical benefits of such testing.
Our research has contributed to the evidence base through randomized clinical trials of sequencing healthy adults in the MedSeq Project and healthy newborn infants in the BabySeq Project. Both of these studies suggest that monogenic disease risks (MDR) are far more common in healthy individuals than previously suspected, and that “deep phenotyping” of such individuals after MDR identification discovers symptoms and signs of the underlying disease that were previously missed. Econogenomics analyses have also suggested that downstream medical workups are appropriate and downstream medical costs are modest. Based upon this, we have launched a Preventive Genomics Clinic at Brigham and Women’s Hospital where apparently healthy individuals can get advanced genomic testing, far beyond anything currently available direct-to-consumer or through most medical providers.
An important contributor to widespread genomic testing in the coming year is that several prominent healthcare systems such as Geisinger, Northshore and Sanford in the U.S., and the National Health Service in the U.K., have recently decided to incorporate aspects of genomic screening into the everyday practice of medicine. The bold experiments will rapidly generate data at scale that will help understand the costs and benefits of such implementation.
A number of consumer-directed laboratories and telegenetics medical practices, such as Genome Medical, are offering preventive genomics testing to consumers who request it, while providing high quality medical counseling and consultation for those who receive positive or negative results.
Finally, the All of Us Research Program, with its plans to recruit 1 million diverse Americans into a research biobank, will be launching a return of genomic results pilot that provides some actionable genomic information back to any of its participants who elect to receive it.
These multiple threads are creating tremendous acceptance for the notion of genetically testing healthy individuals, and for these reasons, I think 2019 will be the year that population testing with genomics dramatically increases.
Medical Discovery and Provision of Health Data Becomes People-Driven
Co-Founder and President, LunaDNA
I believe the future of medical discovery is people-driven and there are two forces at play that drive this prediction. First, in our increasingly connected and digital world, people have health data files at their fingertips—from personal DNA tests, to Fitbits and other wearables, to electronic health records. Today, that data, despite being incomplete snapshots of life, is often bought and sold regularly without the person’s knowledge or consent. The second force is that in order to conduct transformational research, we need more diverse and continuous real-world datasets. The convergence of these two forces will bring forth the opportunity to reimagine research and engage people’s responsibility to share their health data on their terms for the greater good of science.
People (both patients and healthy people) have access and the legal right to their health data. Their data is invaluable for research if aggregated and organized centrally at scale. People’s need for transparency, control and privacy must be honored and people should take part in the value created from their data. The future is about giving people a stake—literally—in the future of medicine and engaging them as true partners in discovery. I believe 2019 will bring new models that challenge silos and un-permissioned data selling, putting people truly in control of their data and helping them get in the fight against disease/transform the future of medical research.”
100K Genomes Project, Genomics England, NHS Bring Genomic Medicine to Clinical Care
CEO, Congenica
April 14th, 2003 was the date the Human Genome Project was officially declared “complete” and on that day the expectations of a medical revolution heightened. In the context of innovation in health, genomics has progressed incredibly quickly but we are still not at the point where we can use a patient’s entire genome to diagnose and manage any disease, or to maintain wellness. A myriad of tools, such as PCR and microarrays, have made their way to the clinic but nothing that directly interrogates the full sequence.
I believe there is going to be significant change over the next 12 months on many fronts, ranging from increasing competitiveness of long read sequencing to clarity around public payor reimbursement, as well as more guidance from the various regulatory agencies around the globe. The stand-out event for me though is the completion of a project, the Genomics England 100,000 Genomes Project, which will start to address those expectations of the past 15 years. The “system,” developed by Genomics England and their partners in the project, will be transferred to the NHS for routine clinical use. Genomic medicine will become completely translated from research into a routine clinical service—a huge accomplishment stemming from a bold vision.
The details are being ironed out, but in general, the focus will be on rare disease diagnosis and cancer. Why is this so important? This is complete “translation”. While many countries are still experimenting, the NHS will be offering a genomic medicine service that a few years ago seemed impossible. It is great news for the patients in the U.K., but it is also a landmark for other major national systems looking to do the same thing. Many of the big implementation questions will have been answered by Genomics England meaning others can learn and accelerate the translation of genomics in their health delivery systems. Those close to the project will tell you it has been difficult, and they have had their detractors and doubters along the way. However, once the NHS does go “live,” this will be seen globally as a landmark event for genomics translation and a point that will tell us all: “it can be done.”
Data Ownership Will Change Health
Co-Founder and CEO, Seqster
The concept of consumerism has been slowly making its progress into the healthcare industry for the last decade. Millions of DTC genetic tests, wearables and other health related services have tried to connect individuals to their health. There definitely is interest, but what is lacking is how the consumer owns the data. With this thriving consumer engagement movement, consumers are more receptive to information, and they want to actively participate in their healthcare treatment, they need to have tools to monitor, track and control their total health. Technology is playing a pivotal role in this paradigm shift with connected health products. There has to be a better way to control and share your data. You must truly own your data.
By putting the consumer at the center of healthcare we will unlock better health for all. Empowering people past citizen science will be the future, because the current model just doesn’t work and at some point people are going to wake up and know that they have signed up their most valuable assets to be monetized behind their backs. A new community or company doesn’t solve the problem and neither does blockchain. The data owners solve the problem.
At the end of the day “Data Ownership” will drive new advancements not only for cures but also for new products and innovation. When we get people involved as participants with their data—whether it be their DNA, medical records, or wearables—we know good things come from all angles. So why haven’t we enabled more people to do good? We’ve been doing the bad lately. Time for the good to take over and push not just companies, but people to make the right decisions with their health data.