CAMBRIDGE, Mass. – As part of its commitment to reducing burdens facing the rare disease community, Takeda Pharmaceutical Company Limited (TSE:4502/NYSE:TAK) (“Takeda”) today announced three priority policy reforms and solutions designed to address significant barriers to care for patients managing rare diseases and genetic conditions as part of a new report, “Reducing Time to Diagnosis for People Living with Rare Diseases: A Conversation on U.S. Policy Opportunities.” The proposed policy solutions, which reflect insights and perspectives from leaders and experts at Amyloidosis Research Consortium (ARC), EveryLife Foundation for Rare Diseases (EveryLife), National Organization for Rare Disorders (NORD) and Parent Project Muscular Dystrophy (PPMD), are designed to address persistent and long-standing barriers that contribute to an ongoing cycle of missed or delayed diagnosis and treatment for patients.
The policy recommendations reinforce an urgent need to broadly engage patients on the importance of timely genetic screenings, specialized disease care and treatment as well as clinical data coordination. According to a new survey from Morning Consult commissioned by Takeda, approximately two-thirds of voters have limited knowledge or understanding about rare diseases, genetic screening or counseling, underscoring the comprehensive approach required to reach and engage patients and providers regarding options for screenings and care.
“The COVID-19 pandemic further exposed what have become pervasive gaps in access to timely diagnostic screenings, clinical trials and actionable health data for patients, particularly for communities of color,” said Ramona Sequeira, president of the U.S. Business Unit and Global Portfolio Commercialization for Takeda. “It’s critical that we have sound, common-sense public policies in place that meaningfully expand access to genetic and genomic screenings and support the data sharing and research collaborations that can reduce the burden of rare diseases on patients and families. These recommendations provide a path forward for elevating the standard of rare disease care for patients, particularly for children and those in communities of color who bear a disproportionate impact from delayed diagnosis and treatment.”
An estimated 30 million Americans, or one in 10 people, live with one or more rare diseases. Despite a growing number of diagnostic tools, individuals still wait an average of six years after the onset of symptoms for a clear, accurate diagnosis.
Key recommendations include:
1) Ensuring widespread and equitable access to genetic and genomic screening.
Promoting broader access and availability of genetic and genomic screening as well as genetic counseling throughout all stages of life would have a demonstrable impact on early identification and diagnosis of rare disease. However, patients often face persistent challenges to accessing these diagnostic tools. The lack of equitable access to genetic screening options both at early age and in adulthood is not only an economic burden for families, particularly for those uninsured or underinsured Americans, but it also poses negative long-term health consequences on symptomatic individuals.
Increasing access to genetic and genomic screening would expand the medical community’s knowledge and understanding of rare diseases and help improve the standard of care for patients currently managing these conditions. An overwhelming majority of voters surveyed in the latest Morning Consult poll (over 85%) support broader access to genetic and genomic screenings in the U.S., and more than 80% of those surveyed see added need and benefit of genetic counseling so patients feel empowered about their health choices.
“We must ensure equitable access to genetic screening for all,” said Annie Kennedy, Chief of Policy and Advocacy, EveryLife.
“The country needs to understand the value of early diagnosis for this population. It does not end with the nucleus of the family; it has significant economic and financial repercussions in the health care system,” said Pam Gavin, Executive Vice President, NORD.
2) Encouraging investments in centralized and specialized rare disease care.
The lack of centralized and specialized rare disease care places a burden on patients and their families who often have to navigate and coordinate a complex network of medical specialties and venues. Centralized medical expertise would lead to a higher standard of evidence-based care that can deliver more support and better outcomes for patients. Optimizing already established health networks – whether Centers of Excellence or Networks of Care – will provide individuals with discrete and tailored options when it comes to personalized care and clinical pathways.
“Complex referral systems and long wait times between specialist visits can delay diagnosis. Centralized, specialized care can ease the diagnostic journey for patients and families,” said Pat Furlong, Founding President and CEO, PPMD.
3) Improving the clinical landscape around rare diseases through data standardization.
Limited data on rare diseases prevents researchers, medical professionals and patients from fully understanding the entire scope of a rare disease. Improved data standardization and sharing would facilitate increased knowledge of disease progression and how a disease manifests across different populations. This in turn would support earlier diagnosis and potential treatments.
These recommendations build on Takeda’s longstanding support for the rare disease community. For example, in March, Takeda announced a five-year commitment with Children’s National Hospital in Washington, D.C. to establish a networked system for the development and dissemination of clinical protocols to help standardize diagnostic processes and care for patients with rare disease. In addition, in February, Takeda celebrated Rare Disease Day by spotlighting rare disease patient stories to bring awareness to and amplify the voices of this community. Encouraging and expanding these types of key partnerships can accelerate critical understanding of rare diseases and inform future care and treatments for patients.
Read the full report here.
About Takeda Pharmaceutical Company Limited
Takeda Pharmaceutical Company Limited (TSE: 4502/NYSE: TAK) is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to discover and deliver life-transforming treatments, guided by our commitment to patients, our people and the planet. Takeda focuses its R&D efforts on four therapeutic areas: Oncology, Rare Genetics and Hematology, Neuroscience, and Gastroenterology (GI). We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines. We are focusing on developing highly innovative medicines that contribute to making a difference in people’s lives by advancing the frontier of new treatment options and leveraging our enhanced collaborative R&D engine and capabilities to create a robust, modality-diverse pipeline. Our employees are committed to improving quality of life for patients and to working with our partners in health care in approximately 80 countries and regions. For more information, visit https://www.takeda.com.