Precision medicine got a boost in mid-September when National Institutes of Health (NIH) advisory committee released a framework for building a cohort of 1 million or more Americans that researchers can draw on for data and specimens, an endeavor in which ophthalmology is well positioned to play an important role, according to one prominent ophthalmology research scientist.
“Ophthalmology is a promising specialty for implementing precision medicine because of the eye’s amenability to intervention and the significant human and economic burdens it incurs,” Stephen H. Tsang, MD, PhD, an associate professor in ophthalmology, pathology and cell biology at Columbia University in New York. Dr. Tsang has authored several papers on genetics and cell biology, and most recently presented papers at a genetic engineering conference hosted by Cold Spring Harbor Laboratory, a non-profit biomedical research and education organization.
President Obama proposed the Precision Medicine Initiative, which was budgeted at $215 million in fiscal year 2016. NIH will lead efforts in cancer genomics, as well as the development of the participant cohort. Of the total proposed in 2016, $130 million was allocated to NIH to build the research cohort.
The NIH framework for precision medicine came from the Precision Medicine Working Group, which NIH Director Francis Collins, MD, PhD, created and charged with developing a plan to form and manage the large research cohort.
Among the scientific opportunities the cohort presents are:
- Estimate risk for a range of diseases by integrating environmental exposures, genetic factors and gene-environment interactions.
- Identify the causes of individual variation in response to commonly used therapeutics.
- Discover biological markers that signal increased or decreased risk of developing common diseases.
- Use mobile health to correlate activity, physiological measures and environmental exposures with health outcomes.
- Develop new disease classifications and relationships.
- Empower study participants with data and information to improve their own health.
- Create a platform for trials of targeted therapies.
Ophthalmology may be in the vanguard of that effort, Dr. Tsang said, noting that Spark Therapeutics, a late-stage gene therapy company, received both breakthrough therapy and orphan product designation from the U.S. Food and Drug Administration (FDA) last year for its lead product candidate, SPK-RPE65, for the treatment of retinitis pigmentosa (RP). The company last week released positive Phase III data on SPK-RPE65.
“Ophthalmic precision medicine is facilitated by the eye’s relative immune privilege and accessibility, and the effects of treatment can be precisely monitored non-invasively at the resolution of a single cell with adaptive optics imaging,” Dr. Tsang said. Because the eye is a “pair organ,” it provides the ideal treatment-control conditions and carries a low risk of rejection of gene and stem cell therapies.
“In fact, therapies involving embryonic stem cell transplants for macular degenerations are the only FDA-approved regenerative medicine trials currently,” Dr. Tsang said. His clinic at Columbia University alone has more than 800 genotyped RP and juvenile macular degeneration patients awaiting FDA approval of gene therapy.
“Supporting vision research will be essential to making therapies based on precision medicine at Columbia a reality,” Dr. Tsang said. “An office to liaise with the FDA on approving gene therapy and autologous stem cell transplantation provides just one example of the additional resources that will be needed.” He is hopeful that the NIH advisory committee report is a step in that direction.