Invited speakers gathered to discuss the scientific promise and regulatory pathways for precision medicine at a briefing in Washington, DC, sponsored by Arent Fox LLP, a law firm providing services related to governmental affairs and regulations, among others.
Former Senator Byron Dorgan, Senior Policy Advisor at Arent Fox—who introduced the briefing—paid tribute to past research mapping the human genome, which has led to new ways of diagnosing and treating cancer and other diseases. “It's a radical shift in how each of us can receive the best care possible based on our unique characteristics,” said Dorgan of genomic research.
The Human Genome Project, an international scientific research effort, was formally launched in 1990 and declared complete in 2003. Today, Dorgan noted the nation stands at the intersection of precision medicine, genetic testing, and medical innovation.
“Finally, technology has caught up to Francis Collins' brain,” said Carrie Wollnitz, PhD, Acting Chief of Staff as well as the Associate Director for Science Policy and Director of the Office of Science Policy at the NIH. Wollnitz was referring to NIH Director Francis Collins, MD, PhD, whose research on the human genome helped pave the way for current advances in precision medicine.
All of Us Research Program
Wollnitz described an ambitious, pioneering new project now underway at the NIH, the All of Us Research Program (https://allofus.nih.gov). She said All of Us seeks 1 million or more research volunteers to participate in a historic study by providing their genomic data. She said the study will be “a new model of research,” representing a collaboration among researchers, health care providers, and study participants.
“This is not a disease-specific study,” Wollnitz said. The goal is to accelerate health research and medical breakthroughs via the breadth, depth, and diversity of the data collected; ultimately, it is hoped that differences between people will lead to a better understanding of how people respond to different therapies. Data will be protected and available to researchers and participants themselves.
Wollnitz said study participants can be direct volunteers as well as enrolled through health care provider organizations. The study will encompass physical measurements, biosamples, participant surveys, and information from electronic health records.
Wollnitz expects a launch of the program in the spring of 2018. When discussing how the project's data will be standardized, she explained the NIH is now working on how to get submitted data into an existing platform and infrastructure so that it will be useful.
Wollnitz said she is confident the data collected from study volunteers will be funneled into a useful infrastructure because the All of Us Research Program is headed by Eric Dishman, Director of the Precision Medicine (PMI) Cohort Program at NIH. Dishman was an Intel Fellow at the Intel Corporation, where he was a founding member of Intel's Digital Health Group. He has been recognized internationally for driving health care reform through home and community-based technologies. Dishman is also a cancer survivor; he battled a rare form of kidney cancer for 23 years and today is cancer-free.
Regenerative Medicine Advanced Therapy
Passage of the 21st Century Cures Act at the end of 2016 added a new therapy designation that should help to accelerate precision medicine, said Peter Marks, MD, PhD, Director of the Center for Biologics Evaluation and Research at the FDA.
The new designation, Regenerative Medicine Advanced Therapy (RMAT), is designed to grant expedited approval to sponsors of products such as cell therapies and tissue engineering products for serious or life-threatening diseases when preliminary clinical evidence shows their potential to fill an unmet medical need. Marks said the FDA has received 31 RMAT designation requests and, of these, the organization has acted on 27 and granted eight RMAT approvals. He noted that a special benefit of the RMAT designation is that it grants early and increased interaction between the new product's sponsor and the FDA.
Marks cited CAR T-cell therapy as an example of regenerative gene therapy with potential application to hematologic malignancies and solid tumors as well as to infectious diseases and autoimmune diseases. The first CAR T-cell therapy was approved by the FDA on Aug. 30, 2017, for certain children and young adults with B-cell acute lymphoblastic leukemia.
Innovative medical technology can help speed the delivery of precision medicine to patients, said Subha Madhavan, PhD, Director of Clinical Research Informatics at Georgetown Lombardi Comprehensive Cancer Center, Georgetown University. “We are now entering the post-genomic revolution,” she said, noting that more than 50 percent of all cancer treatments rely on biomarker data, that 155 genomic biomarkers are included on FDA-approved drug labels, and many health systems now routinely conduct molecular testing on patients. But, “we still have a long way to go in treating patients with advanced metastatic cancer,” she noted.
Madhaven said that new technologies can support precision medicine in many ways, given that 85 percent of cancer patients are treated in the community. These include the following:
- synchronous, HIPAA-compliant user-friendly virtual tumor board, since multidisciplinary, collaborative treatment planning tumor boards are difficult to manage and scale up;
- algorithms that match patients to clinical trials with high precision;
- structuring and storing all clinical trials in a database; and
- standardization of clinical molecular diagnostic data.
She cited computational biology and extensive literature curation as useful tools to help match cancer patients with effective treatments.
With the proliferation of genomic tests entering the marketplace, payers need to know that a test for which they reimburse is evidence-based and has accuracy, validity, and clinical utility, said Richard Bankowitz, MD, MS, MBA, Executive Vice President for Clinical Affairs at America's Health Insurance Plans. Bankowitz said the bottom line is that payers are concerned that the right test is used in the right population, and that it results in the proper therapy. “The evidentiary base for some of this [testing] is not quite clear,” he said. “Sometimes, there's very good evidence; sometimes it's a little more murky.”
Bankowitz said genomic testing presents opportunities for disease prevention, improving population health, and early intervention. But he said that, in addition to questions about the evidence base for genomic tests, payers are also concerned about patients who undergo testing and end up with lots of genomic information and no idea what to do about it. For example, Bankowitz questioned what should be done with incidental genomic findings. He pointed out that incidental genomic findings could lead to a cascade of invasive tests, which in themselves have the potential for harm. “I think we need to get much more rigorous in how we consider value,” concluded Bankowitz.
Peggy Eastman is a contributing writer.