Q: How did you become interested in genomic and transcriptomic research?
A: My undergraduate degrees are in chemistry and molecular biology, and my graduate work at Caltech focused on building small molecules to site-specifically target DNA. I have spent the last 20 years working in genomics starting with development of microarray technologies for low cost, bioelectronic DNA detection at Clinical Micro Sensors (CMS) in Pasadena, CA. This eSensor platform is the basis of GenMark Diagnostics today. I am a big believer that genomic information should be routinely employed in the management of disease, and I founded DxTerity with the goal of bringing genomics to everyday care. Our DxDirect Genomics Platform and DxCollect Fingerstick Collection Kit enable low cost, from home genomic testing and monitoring.
Q: What was the first DNA test that you developed?
A: A multiplex Cystic Fibrosis SNP test on the eSensor platform while at Clinical Micro Sensors.
Q: What are the challenges facing human genomic research today?
A: The biggest challenges are completing the clinical studies needed to demonstrate the clinical validity, clinical utility, and economic value of promising genomic tests, as well as obtaining regulatory clearance and reimbursement. Many of the most promising genomic tests are multi-gene panels that rely on a complex algorithm to make a non-obvious medical determination. Large-scale studies are needed to prove value, and the traditional multi-site, KOL-led studies are too expensive and slow. DxTerity’s foray into Direct-to-Patient studies, as well as high-quality, FDA-compliant product development, look to overcome these challenges and enable rapid, cost-effective commercialization of diagnostic tests.
Q: What are the benefits of DxTerity’s Direct-to-Patient platform for genomic research?
A: DxTerity provides much needed innovation to genomic research by offering unprecedented access to patient samples. DxTerity’s Direct-to-Patient (D2P) platform uses a single centralized Institutional Review Board (IRB), nationwide digital recruitment of patient cohorts, and “from home” sampling of participants to dramatically lower the resource and financial burden of clinical studies for both the test developer and participant. With our D2P platform, the patient is the site, and sampling and monitoring can be preformed anytime, anywhere, on anyone. This streamlined, integrated approach makes large-scale longitudinal studies economically feasible. By driving down the cost to accessing participants, and collecting samples more frequently from larger cohorts, DxTerity’s D2P platform provides the ability to gain a much higher resolution picture of disease activity and therapy response. Plus, studies can be performed on an accelerated timeframe. Organizations could enroll patients and begin a study in months, and gather data in record time.
Q: Can you give an example of a recent study that the Direct-to-Patient platform was used to collect genomic data?
A: The LIFT Study, or Lupus Interval Monitoring to Manage Disease Flare and Enable Treatment Optimization, was an observational research study that, utilizing DxTerity’s D2P platform and the DxCollect fingerstick kit, recruited 1,000 participants in less than 6 weeks via online efforts. Participants provided three self-collected fingerstick blood samples using our DxCollect kit and returned them by standard U.S. mail. We had a 97% success rate for determining Interferon High/Low status on the basis of a gene expression signature.
Q: What are the challenges that the field of genomic research will face in the next five years?
A: Testing at the genome/transcriptome level is readily available. The next challenge is making it medically available at a reasonable cost, and integrating it in wearables and patient-reported data to enable cost effective, from home monitoring. At the same time, we need to navigate the FDA, insurance providers, and the medical community at large to delineate a reasonable, expedient pathway for the validation and reimbursement of promising tests and patient management offerings. Managed care providers, pharmaceutical companies, and the US government can play key roles by making clinical samples available that can be used to validate the performance of new tests.
Q: You joined CMS shortly after receiving your PhD in chemistry from Caltech. What advice can you give to young scientists considering an industry career?
A: There has never been a better time to join the field of genomics research. Advances in genomic technologies and a patient-centric approach to clinical sampling will usher in a new renaissance of large-scale, low-cost clinical studies that advance discovery and innovation in precision medicine and chronic disease monitoring and treatment. Be thorough, thoughtful, and passionate about your work, and remember the “why” behind what you do: the use of genomic profiling for chronic disease monitoring could someday help improve the quality of life for patients living with chronic diseases.
The 14th Precision Medicine World Conference (PMWC) will take place at the University of Michigan on June 6-7, 2018. This conference coincides with University of Michigan’s launch of a new Precision Health research initiative that integrates U of M’s strengths in Medicine, Engineering, Pharmacy, and Public Health. This initiative combines biomedical expertise, big data, and the social sciences enabling a comprehensive approach to providing patients with tailored health solutions.
To support the University of Michigan’s goal to bring together leading researchers from across the university and the country to springboard this new and exciting research initiative, PMWC and U-M have agreed that the campus is an optimal location for the next conference. This forum will showcase practical content that helps close the knowledge gap among different sectors, thereby catalyzing cross-functional fertilization and collaboration to benefit both University of Michigan and PMWC attendees.
The program will feature innovative technologies, and analyze the success of already thriving initiatives and clinical case studies that enable the translation of precision medicine into direct improvements in health care. Conference attendees will have an opportunity to learn first-hand about the latest developments and advances in precision medicine and cutting-edge strategies and solutions that are fundamentally changing how patients are treated. This is reflected in the Program Theme: “Big Data in Action: Insights in the Clinic”.
- Two Track Program will showcase sessions on the latest advancements in precision medicine which include, but are not limited to: Transforming Big Data Into Actionable Information, Personalized Modeling of P4 Health, Emerging Technologies in Precision Medicine, The Economic and Socio-political Aspects of Precision Medicine, Precision Cancer Therapy, Session Scalable Infrastructure/Platforms to Power NGS for the Clinic, Genomic Data and Precision Health, Challenges and Barriers at the Community Setting, Opioid Precision Health, Pharmacogenomics Today and Tomorrow.
- A lineup of 100+ highly regarded speakers featuring pioneering researchers and authorities across the healthcare and biotechnology sectors – browse select PMWC 2018 SV recorded talks
- Luminary and Pioneer Awards, honoring individuals who contributed, and continue to contribute, to the field of Precision Medicine
- 500+ multidisciplinary attendees, from across the entire spectrum of healthcare, representing different types of companies, technologies, and medical centers with leadership roles in precision medicine
- Track 2-PMWC 2018 Michigan Showcase, enable 15-minute company presentations on latest novel technologies. See past PMWC Showcase presenters. Nominate here or apply to present here.
Confirmed thought leaders include: