Genetic testing and breakthrough therapies may transform diagnosis, care of neuromuscular disease

Reviewed by James Ives, M.Psych. (Editor)Oct 31 2018

A new report funded by the Muscular Dystrophy Association (MDA) and released by the IQVIA Institute for Human Data Science indicates that genetic testing and breakthrough therapies will transform the diagnosis and care of neuromuscular disease within the next decade. The report, "Understanding Neuromuscular Disease Care," highlights current gaps in care and opportunities to optimize care and accelerate the emergence of new therapies. Insights gained from a survey of health care professionals focused on the care of patients with neuromuscular disease are also included.

Neuromuscular diseases encompass a broad group of disorders that collectively impact an estimated 250,000 patients and their caregivers in the United States alone. Although these diseases are rare and treatment options are currently limited, the financial impact is high. IQVIA's report reveals total annual costs across all neuromuscular patients exceed $46 billion. The diagnostic odyssey can often take upwards of a year, although improvements in the speed, price and comprehensiveness of available genetic testing are accelerating the process. The report sheds light on the role data will play in revolutionizing the importance of early genetic screening, intervention and treatment, including through the newborn screening public health program, which has enormous implications on time to diagnosis and intervention.

"MDA is in the best possible position to transform the lives of people with neuromuscular disease," says MDA President and Chief Executive Officer Lynn O'Connor Vos. "As the umbrella organization for more than 40 neuromuscular diseases, and with multidisciplinary clinics providing best in class care at more than 150 of the nation's top medical institutions, we are galvanizing both industry and the research arena to develop better care and more cures."

Through its comprehensive data hub, MOVR (NeuroMuscular ObserVational Research), MDA is playing a pivotal role in the advancement of research and care in neuromuscular disease. MOVR rolled out in 2018 and will become fully implemented at 50 MDA Care Centers in 2019 to improve the ability for researchers and health care providers to identify precision medicine treatments, enhancing options for care.

"The MOVR Data Hub will be extraordinarily powerful, enabling us to capture genome data, clinical data, professionally reported data and patient/family-reported data all in in one place," says Dr. R. Rodney Howell, chairman of MDA's Board of Directors. "The data from MOVR will provide benefits both in the present, identifying patients for treatments based on their genomic data, as well as in the future, as new treatment options become available. The study of the genomic data will identify important new genetic modifiers."

Other insights from the study:

• Treatment for neuromuscular disease is generally provided through a multidisciplinary care model, allowing patients to visit a range of specialists synchronously in a dedicated center.
• Care paradigms and provider treatment decisions may be inconsistent, reflecting the challenges of small patient populations, varied symptoms and a lack of official guidelines, particularly for many of the less prevalent diseases.
• Adopting technologies for remote appointments and real-time monitoring can improve care management by minimizing patient travel and increasing communication with health care providers.
• There is a need to develop innovative approaches to pricing and reimbursement to tackle access to care for patients.
• Psychological symptoms are an ongoing challenge, affecting 75 percent of patients and recognized by 90 percent of neuromuscular disease health care professionals as a high unmet need.

"The rapid progress being made in improving patient care and outcomes through the combination of scientific breakthroughs and the development of secure, scalable cloud-based data hubs is remarkable," says Murray Aitken, executive director of the IQVIA Institute for Human Data Science. "Expectations are high for advancing patient care and bringing disease-modifying therapies across a number of neuromuscular diseases to patients and their families. We are pleased to collaborate with MDA in undertaking research that highlights both the gaps in care and the opportunities to address them in the near-term."