Global Genes Report Finds Technology Reshaping the Rare Disease Landscape, but Non-Scientific Challenges Threaten to Impede Progress

Report seeks to foster creative thinking and new approaches to addressing obstacles to patients getting the answers and care they need

Aliso Viejo, Calif. (September 18, 2019) – The rapid progress of technology is creating an opportunity to improve the prospects many people with rare diseases face today, but patient organizations, drug developers, and other stakeholders need to be innovative in addressing non-scientific challenges to capitalize on the opportunities before them today, a newly released report from Global Genes says.

Global Genes’ released the report, Next: Imagining the Future of Rare Disease, today at its RARE Patient Advocacy Summit in San Diego.

“As Global Genes grows, we wanted to take the opportunity to not only look back and reflect upon how far the rare disease community has come, but also look ahead and think about what needs to be done to ensure that the rare disease community can benefit from the advances being made,” said Nicole Boice, founder, Global Genes. “While there is great optimism about reducing the diagnostic odyssey, accelerating the development of precision medicines, and even developing functional cures, failure to address these obstacles threaten to slow progress, hamper the translation of discoveries into therapies, and impede access to treatments and care.”

The Next report explores a wide array of technological advances that are changing the way that rare disease patients are diagnosed, how research is conducted, how therapies are developed, and how care is delivered. It was based on nearly 50 interviews with rare disease experts and leaders within industry, government, patient advocacy, science, and academia, as well as an extensive review of academic research and press reports. It explores many examples of how patients, researchers, clinicians, and drug developers are harnessing technologies like artificial intelligence, next-generation sequencing, digital health tools, and big data analysis. 

The Next report also contains a list of specific challenges the rare disease community will need to address. These include, but are not limited to such things as the need for new payment models, flexible consent agreements that consider not just current, but potential future uses of data; ways to ensure patients control their own data and can share it with whomever they choose; rethinking of privacy regulations; and the need to focus members of the rare disease community on common goals.

“While there are technological advances that promise to transform the rare disease landscape, our discussions with stakeholders made it clear that the ability to overcome scientific challenges will in itself not be enough,” said report author Daniel S. Levine, an award-winning journalist, principal of Levine Media Group, and host of Global Genes’ RARECast podcast. “The rare disease community will need to be innovative in how it tackles non-scientific challenges.”

As an example, the report points to rare disease patients who have conditions where there is no approved therapy. The ability exists today to screen individual patients against a library of approved drugs to find potential treatments to repurpose. Similarly, there is a potential to develop a toolkit of vectors to deliver antisense oligonucleotides or gene therapies that are customized to meet the needs of a single patient. 

“Such approaches are in our grasp, but there are questions about business, regulatory, and payment models that will need to be addressed to make such individualized approaches available to patients and financially sustainable,” Levine said. 

Despite the considerable progress that has been made in understanding rare disease, about 95 percent of the rare diseases that have been identified to date are without an approved treatment today. About 30 million people in the United States—nearly one in 10 people—suffer from a rare disease. Globally, an estimated 400 million people are afflicted with such conditions. Patients in the United States today face an odyssey that on average takes nearly five years for them to obtain a diagnosis, and that can take longer in other parts of the world.  

“People faced with rare diseases are an impatient group because they have to be. Time is a luxury that patients and their families can’t afford. As such, even the dizzying pace at which scientific advances are being made today can still seem plodding to the thousands of rare disease communities without approved treatments,” said Kimberly Haugstad, CEO, Global Genes. “We hope this report begins an ongoing discussion in the years ahead to foster creative thinking and new approaches to solving a range of problems that may stand in the way of patients getting the answers and care they need.” 

The report can be downloaded by visiting www.globalgenes.org/next-report

About Global Genes® 

Global Genes is a 501(c)(3) nonprofit organization on a mission to connect, empower and inspire the rare disease community. We provide hope for more than 400 million people affected by rare disease around the globe. To date, we’ve educated more than 18 million people in 134 countries about rare disease, equipped 190,000 patients and advocates with tools and resources, and provided $460,000 in support for innovative patient impact programs. If you or someone you love have a rare disease or are searching for a diagnosis, contact Global Genes at 949-248-RARE or visit the resource hub at Globalgenes.org.

Contact: 

Rose Mary Moegling
Director of Marketing
Global Genes
rosemarym@globalgenes.org

949-248-7232

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