As leaders of our field gather in Vancouver for the annual American Society of Human Genetics Meeting (ASHG 2016), it is an excellent time to take stock of the past and clarify our perspectives for the future. For the field of genomics, this is an opportunity both to reflect on our accomplishments over the last few years and to consider what we can achieve in the years ahead.
Indeed, our accomplishments have been numerous and our goals are ambitious, yet achievable. Here, I would like to summarize five significant ways in which our work in genomics has been revolutionizing medicine and improving patient outcomes. In addition, I would like to share my thoughts about five areas in which I believe our field can drive meaningful change over the next few years.
What We Have Achieved
1. Improvements in Sequencing Technology and Analytical Tools
The ever-increasing volume of genomic data is testimony to the dramatic increases in sequencing speed and efficiency over recent years. At the same time, novel methods of analysis, like the powerful genomics platform employed here at WuXi NextCODE, have considerably advanced our understanding of genetic variations and their clinical significance.
2. Transformations in Cancer Treatment
As I have discussed here, the expanding use of genomic data to guide treatment decisions in oncology is transforming the way clinicians approach cancer treatment. In addition, our growing understanding of genetic predispositions for certain cancers is helping high-risk individuals make informed choices about preventive care.
3. Progress in Rare Diseases
Genomic data has brought new hope to families struggling with rare diseases by shortening diagnostic odysseys, guiding treatment, and building communities. I provide examples of the game-changing power of genomics in the diagnosis of rare diseases here.
4. Empowerment of Patients and Consumers
Patients and consumers are increasingly informed about the innovative and meaningful ways in which genomic data can guide healthcare decisions. The successes in our field are empowering individuals to pursue personalized medicine and generating interest in direct-to-consumer testing. I offer my thoughts about DTC genetic testing here.
5. Innovations in Cloud-Based Analysis
The vast and ever-growing quantity of genomic data and related information necessitates new approaches to storage and analysis. As I have previously discussed, cloud-based computing is essential to continued success in genomics. WuXi NextCODE’s Exchange is at the forefront of the accelerated research made possible by real-time collaboration and analysis in the cloud.
What We Can Achieve in the Years Ahead
1. Effective Communication and Collaboration
Realizing the full potential of big data and cloud-based computing will require new efforts to dismantle “data silos.” I am encouraged by recent initiatives to facilitate collaboration in cancer research, and – as I have recently discussed – call upon researchers and clinicians throughout the field of genomics to improve communication among all stakeholders.
2. Policies for Research with Patient Data
Our field derives its greatest power from careful analysis of genomic data, and access to data is critical to effecting meaningful change in healthcare. In order to gather this game-changing data – from patients, from consumers, and from population-wide studies – we need to develop and embrace policies that lead to consider the ‘biorights’ of patients. Individuals who wish to contribute information for research should have the opportunity to do so, and all parties should clearly communicate the purposes and extent of data-sharing.
3. Integration for Clinical Trials
I perceive significant movement toward the development of clinical trials that test the efficacy of treatments tailored to specific genetic anomalies – and use genetic information to screen participants. This is an area in which genomics will dramatically accelerate the development of personalized therapies that will surely improve patient outcomes.
4. Actionable Information from Population-Wide Genomic Studies
I believe that in the near future we will reap significant rewards from projects that gather population-wide genomic information. Analysis of the data we are collecting around the world, which I describe here, is an essential step to reshaping healthcare practices worldwide.
5. Globalization of Genomic Products: ‘Think Globally, Act Locally’
The power of genomic information is now known throughout the globe, and can be applied in a multitude of positive ways. With such widespread potential, individual countries and cultures will choose to advance and roll-out genomics in their own distinct ways for the benefit of their citizens. Companies that develop genomic products will need to adapt and design their products for use in specific markets. At WuXi NextCODE, the first focus of our product portfolio for individual patients and families is in China, where we are delivering three offerings: population-optimized diagnostics, carrier screening, and whole-genomic wellness scans.
Together these initiatives build upon our recent accomplishments and further the creation of data and analysis necessary for meaningful change in healthcare.
The genomic revolution in medicine that we envisage will be achieved through applied use of research and development that is:
- Fueled by big data, including data provided by informed consumers and patients and data derived from population-wide studies;
- Supported by clinical trials crafted to assess the safety and efficacy of treatments tailored to individual characteristics; and
- Enabled by collaborative work and effective communication.
At WuXi NextCODE, we are energized by the prospects for genomics in the years to come. We are proud to be at the cutting edge, providing the tools and resources that researchers and clinicians need to harness the transformative power of genomic data. And—importantly—we are confident that our field will continue to drive meaningful changes in healthcare that improve patient outcomes.